EPIDASD - Genelist

Neurology

#	Condition	Gene	OMIM ID
1	2-methylbutyrylglycinuria	ACADSB	600301
2	2-methylbutyrylglycinuria	ACADSB	587133
3	2-methylbutyrylglycinuria	ACADSB	573965
4	2-methylbutyrylglycinuria	ACADSB	560797
5	3-Hyperprolinemia, type II	ALDH4A1	606811
6	3-Hyperprolinemia, type II	ALDH4A2	606812
7	3-Hyperprolinemia, type II	ALDH4A3	606813
8	3-Hyperprolinemia, type II	ALDH4A4	606814
9	3-methylglutaconic aciduria, type I	AUH
10	3-methylglutaconic aciduria, type I	AUH	569393,7161
11	3-methylglutaconic aciduria, type I	AUH	734572,7488
12	3-methylglutaconic aciduria, type I	AUH	899751,7815
13	3-methylglutaconic aciduria, type V	DNAJC19
14	3-methylglutaconic aciduria, type V	DNAJC19	701249,1746
15	3-methylglutaconic aciduria, type V	DNAJC19	854756,6867
16	3-methylglutaconic aciduria, type VIIA, autosomal dominant, 3-methylglutaconic aciduria, type VIIB, autosomal recessive, Neutropenia, severe congenital, 9, autosomal dominant	CLPB	616254
17	3-methylglutaconic aciduria, type VIIA, autosomal dominant, 3-methylglutaconic aciduria, type VIIB, autosomal recessive, Neutropenia, severe congenital, 9, autosomal dominant	CLPB	393543,6553
18	3-methylglutaconic aciduria, type VIIA, autosomal dominant, 3-methylglutaconic aciduria, type VIIB, autosomal recessive, Neutropenia, severe congenital, 9, autosomal dominant	CLPB	283160,6105
19	3-methylglutaconic aciduria, type VIIA, autosomal dominant, 3-methylglutaconic aciduria, type VIIB, autosomal recessive, Neutropenia, severe congenital, 9, autosomal dominant	CLPB	172777,5658
20	5-fluorouracil toxicity / Dihydropyrimidine dehydrogenase deficiency	DPYD	612779
21	5-fluorouracil toxicity / Dihydropyrimidine dehydrogenase deficiency	DPYD	742786,5014
22	5-fluorouracil toxicity / Dihydropyrimidine dehydrogenase deficiency	DPYD	896294,0135
A
23	AICA-ribosiduria due to ATIC deficiency	ATIC
24	AICA-ribosiduria due to ATIC deficiency	ATIC	526378,343
25	AICA-ribosiduria due to ATIC deficiency	ATIC	691557,3757
26	AICA-ribosiduria due to ATIC deficiency	ATIC	856736,4084
27	Achalasia-addisonianism-alacrimia syndrome	AAAS	605378
28	Achalasia-addisonianism-alacrimia syndrome	AAAS	605379
29	Achalasia-addisonianism-alacrimia syndrome	AAAS	605380
30	Achalasia-addisonianism-alacrimia syndrome	AAAS	605381
31	Acyl-CoA dehydrogenase, medium chain, deficiency of	ACADM	607008
32	Acyl-CoA dehydrogenase, medium chain, deficiency of	ACADM	607009
33	Acyl-CoA dehydrogenase, medium chain, deficiency of	ACADM	607010
34	Acyl-CoA dehydrogenase, medium chain, deficiency of	ACADM	607011
35	Acyl-CoA dehydrogenase, short-chain, deficiency of	ACADS	606885
36	Acyl-CoA dehydrogenase, short-chain, deficiency of	ACADS	593717
37	Acyl-CoA dehydrogenase, short-chain, deficiency of	ACADS	580549
38	Acyl-CoA dehydrogenase, short-chain, deficiency of	ACADS	567381
39	Adams-Oliver syndrome 2	DOCK6
40	Adams-Oliver syndrome 3	DOCK6	717502,9112
41	Adams-Oliver syndrome 4	DOCK6	871010,4233
42	Adenylosuccinase deficiency	ADSL	608222
43	Adenylosuccinase deficiency	ADSL	384560,4381
44	Adenylosuccinase deficiency	ADSL	303114,381
45	Adenylosuccinase deficiency	ADSL	221668,3238
46	Adrenoleukodystrophy/ Adrenomyeloneuropathy, adult	ABCD1	300371
47	Adrenoleukodystrophy/ Adrenomyeloneuropathy, adult	ABCD7	300371
48	Adrenoleukodystrophy/ Adrenomyeloneuropathy, adult	ABCD13	300371
49	Adrenoleukodystrophy/ Adrenomyeloneuropathy, adult	ABCD19	300371
50	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome/Arrhythmogenic right ventricular dysplasia 14	CDH2
51	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome/Arrhythmogenic right ventricular dysplasia 15	CDH2
52	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome/Arrhythmogenic right ventricular dysplasia 16	CDH2
53	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome/Arrhythmogenic right ventricular dysplasia 17	CDH2
54	Aicardi-Goutieres syndrome 6 615010	ADAR	146920
55	Aicardi-Goutieres syndrome 6 615011	ADAR	734543,8745
56	Aicardi-Goutieres syndrome 6 615012	ADAR	1014065,238
57	Aicardi-Goutieres syndrome 6 615013	ADAR	1293586,602
58	Al Kaissi syndrome	CDK10
59	Al Kaissi syndrome	CDK22
60	Al Kaissi syndrome	CDK34
61	Al Kaissi syndrome	CDK46
62	Al-Raqad syndrome	DCPS
63	Al-Raqad syndrome	DCPS	632622,2869
64	Al-Raqad syndrome	DCPS	786129,799
65	Alpha-aminoadipic and alpha-ketoadipic aciduria	DHTKD1
66	Alpha-aminoadipic and alpha-ketoadipic aciduria	DHTKD2	668741,7015
67	Alpha-aminoadipic and alpha-ketoadipic aciduria	DHTKD3	822249,2136
68	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome, X-linked	ATRX	300032
69	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome, X-linked	ATRX	565952,4863
70	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome, X-linked	ATRX	731131,519
71	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome, X-linked	ATRX	896310,5517
72	Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome	ATP1A2	182340
73	Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome	ATP1A5	536702,0326
74	Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome	ATP1A8	701881,0653
75	Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome	ATP1A11	867060,098
76	Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation)	ATP1A3	182350
77	Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation)	ATP1A6	538422,6475
78	Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation)	ATP1A9	703601,6802
79	Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation)	ATP1A12	868780,7129
80	Aminoacylase 1 deficiency	ACY1	104620
81	Aminoacylase 1 deficiency	ACY2	687956,9806
82	Aminoacylase 1 deficiency	ACY3	967478,3441
83	Aminoacylase 1 deficiency	ACY4	1246999,708
84	Argininemia 207800	ARG1	608313
85	Argininemia 207801	ARG2	408428,0602
86	Argininemia 207802	ARG3	279706,9925
87	Argininemia 207803	ARG4	150985,9248
88	Argininosuccinic aciduria	ASL	608310
89	Argininosuccinic aciduria	ASL	315001,0814
90	Argininosuccinic aciduria	ASL	140511,781
91	Argininosuccinic aciduria	ASL	-33977,51936
92	Aromatic L-amino acid decarboxylase deficiency	DDC	107930
93	Aromatic L-amino acid decarboxylase deficiency	DDC	638040,1991
94	Aromatic L-amino acid decarboxylase deficiency	DDC	791547,7112
95	Asparagine synthetase deficiency	ASNS	108370
96	Asparagine synthetase deficiency	ASNS	300460,3064
97	Asparagine synthetase deficiency	ASNS	125971,006
98	Asparagine synthetase deficiency	ASNS	-48518,29439
99	Aspartylglucosaminuria	AGA	613228
100	Aspartylglucosaminuria	AGA	604064,6667
101	Aspartylglucosaminuria	AGA	593564,6667
102	Aspartylglucosaminuria	AGA	583064,6667
103	Ataxia-telangiectasia	ATM
104	Ataxia-telangiectasia	ATM	528098,958
105	Ataxia-telangiectasia	ATM	693277,9907
106	Ataxia-telangiectasia	ATM	858457,0234
107	Atypical neurodevelopment	DDX23
108	Atypical neurodevelopment	DDX47	645264,082
109	Atypical neurodevelopment	DDX71	798771,5941
B
110	BDV syndrome	CPE
111	BDV syndrome	CPE	339108,1811
112	BDV syndrome	CPE	228725,1364
113	BDV syndrome	CPE	118342,0916
114	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (PMID: 25561519)	BDP1
115	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (PMID: 25561519)	BDP2	610688,4743
116	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (PMID: 25561519)	BDP3	775867,507
117	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (PMID: 25561519)	BDP4	941046,5397
118	Bainbridge-Ropers syndrome	ASXL3	615115
119	Bainbridge-Ropers syndrome	ASXL6	615116
120	Bainbridge-Ropers syndrome	ASXL9	615117
121	Bainbridge-Ropers syndrome	ASXL12	615118
122	Baraitser-Winter syndrome 1	ACTB	102630
123	Baraitser-Winter syndrome 2	ACTG1	102560
124	Baraitser-Winter syndrome 3	ACTB	594783,1928
125	Baraitser-Winter syndrome 4	ACTG2	618076,6397
126	Baraitser-Winter syndrome 5	ACTB	874304,5563
127	Baraitser-Winter syndrome 6	ACTG3	897598,0032
128	Baraitser-Winter syndrome 7	ACTB	1153825,92
129	Baraitser-Winter syndrome 8	ACTG4	1177119,367
130	Baralle-Macken syndrome	COPB1
131	Baralle-Macken syndrome	COPB3	355741,2427
132	Baralle-Macken syndrome	COPB5	245358,1979
133	Baralle-Macken syndrome	COPB7	134975,1532
134	Bardet-Biedl syndrome 1	BBS1
135	Bardet-Biedl syndrome 1	BBS1	584879,2505
136	Bardet-Biedl syndrome 1	BBS1	750058,2832
137	Bardet-Biedl syndrome 1	BBS1	915237,3159
138	Bardet-Biedl syndrome 2	BBS2
139	Bardet-Biedl syndrome 2	BBS2	586599,8654
140	Bardet-Biedl syndrome 2	BBS2	751778,8981
141	Bardet-Biedl syndrome 2	BBS2	916957,9308
142	Bardet-Biedl syndrome 21	CFAP418
143	Bardet-Biedl syndrome 22	CFAP419	603506,8867
144	Bardet-Biedl syndrome 23	CFAP420	598263,8477
145	Bardet-Biedl syndrome 24	CFAP421	593020,8086
146	Bardet-Biedl syndrome 3	ARL6	3
147	Bardet-Biedl syndrome 4	BBS4
148	Bardet-Biedl syndrome 4	ARL7	-1217835
149	Bardet-Biedl syndrome 4	BBS4	588320,4803
150	Bardet-Biedl syndrome 4	BBS4	753499,513
151	Bardet-Biedl syndrome 4	BBS4	918678,5457
152	Bardet-Biedl syndrome 5	ARL8	-2435673
153	Bardet-Biedl syndrome 6	ARL9	-3653511
154	Bardet-Biedl syndrome 7	BBS7
155	Bardet-Biedl syndrome 7	BBS7	590041,0952
156	Bardet-Biedl syndrome 7	BBS7	755220,1279
157	Bardet-Biedl syndrome 7	BBS7	920399,1606
158	Bardet-Biedl syndrome 9	BBS9
159	Bardet-Biedl syndrome 9	BBS9	591761,7102
160	Bardet-Biedl syndrome 9	BBS9	756940,7429
161	Bardet-Biedl syndrome 9	BBS9	922119,7756
162	Bartter syndrome, type 4a	BSND
163	Bartter syndrome, type 4a	BSND	638218,3131
164	Bartter syndrome, type 4a	BSND	803397,3458
165	Bartter syndrome, type 4a	BSND	968576,3785
166	Biotinidase deficiency	BTD	609019
167	Biotinidase deficiency	BTD	639938,928
168	Biotinidase deficiency	BTD	805117,9607
169	Biotinidase deficiency	BTD	970296,9934
170	Bjornstad syndrome / GRACILE syndrome / Mitochondrial complex III deficiency, nuclear type 1	BCS1L	603647
171	Bjornstad syndrome / GRACILE syndrome / Mitochondrial complex III deficiency, nuclear type 2	BCS1L	608967,8594
172	Bjornstad syndrome / GRACILE syndrome / Mitochondrial complex III deficiency, nuclear type 3	BCS1L	774146,8921
173	Bjornstad syndrome / GRACILE syndrome / Mitochondrial complex III deficiency, nuclear type 4	BCS1L	939325,9248
174	Bloom syndrome	BLM
175	Bloom syndrome	BLM	614129,7042
176	Bloom syndrome	BLM	779308,7369
177	Bloom syndrome	BLM	944487,7696
178	Bohring-Opitz syndrome	ASXL1	3
179	Bohring-Opitz syndrome	ASXL4	227756,4312
180	Bohring-Opitz syndrome	ASXL7	53267,13084
181	Bohring-Opitz syndrome	ASXL10	-121222,1696
182	Brain small vessel disease 2	COL4A2	120090
183	Brain small vessel disease 3	COLGALT1
184	Brain small vessel disease 4	COL4A4	358765,4357
185	Brain small vessel disease 5	COLGALT2	357253,3392
186	Brain small vessel disease 6	COL4A6	248382,3909
187	Brain small vessel disease 7	COLGALT3	246870,2944
188	Brain small vessel disease 8	COL4A8	137999,3462
189	Brain small vessel disease 9	COLGALT4	136487,2497
190	Brain small vessel disease with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant , {Hemorrhage, intracerebral, susceptibility to}	COL4A1	120130
191	Brain small vessel disease with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant , {Hemorrhage, intracerebral, susceptibility to}	COL4A3	360277,5322
192	Brain small vessel disease with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant , {Hemorrhage, intracerebral, susceptibility to}	COL4A5	249894,4874
193	Brain small vessel disease with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant , {Hemorrhage, intracerebral, susceptibility to}	COL4A7	139511,4427
194	Branched-chain keto acid dehydrogenase kinase deficiency	BCKDK	614901
195	Branched-chain keto acid dehydrogenase kinase deficiency	BCKDK	600364,7848
196	Branched-chain keto acid dehydrogenase kinase deficiency	BCKDK	765543,8175
197	Branched-chain keto acid dehydrogenase kinase deficiency	BCKDK	930722,8502
C
198	C syndrome	CD96
199	C syndrome	CD97	107953,8393
200	C syndrome	CD98	-120621,0797
201	C syndrome	CD99	-349195,9986
202	CHARGE syndrome / Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	608892
203	CHARGE syndrome / Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	612164
204	CHARGE syndrome / Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	615436
205	CHARGE syndrome / Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	618708
206	CHOPS syndrome	AFF4	604417
207	CHOPS syndrome	AFF7	604418
208	CHOPS syndrome	AFF10	604419
209	CHOPS syndrome	AFF13	604420
210	CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Kazeminasab et al., Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. PMID: 30450701	CNKSR1	603272
211	CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Kazeminasab et al., Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. PMID: 30450702	CNKSR3	390519,4623
212	CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Kazeminasab et al., Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. PMID: 30450703	CNKSR5	280136,4175
213	CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Kazeminasab et al., Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699. PMID: 30450704	CNKSR7	169753,3727
214	Canavan disease 271900	ASPA	608034
215	Canavan disease 271901	ASPA	285919,5314
216	Canavan disease 271902	ASPA	111430,231
217	Canavan disease 271903	ASPA	-63059,06943
218	Candidate gene - brain malformation, ID	CELSR1
219	Candidate gene - brain malformation, ID	CELSR2
220	Candidate gene - brain malformation, ID	CELSR3
221	Candidate gene - brain malformation, ID	CELSR4
222	Candidate gene: Rolantic epilepsy	AMZ1
223	Candidate gene: Rolantic epilepsy	AMZ2	1077683
224	Candidate gene: Rolantic epilepsy	AMZ3	1767181,5
225	Candidate gene: Rolantic epilepsy	AMZ4	2456680
226	Carbamoylphosphate synthetase I deficiency	CPS1	608307
227	Carbamoylphosphate synthetase I deficiency	CPS2	334571,8916
228	Carbamoylphosphate synthetase I deficiency	CPS3	224188,8469
229	Carbamoylphosphate synthetase I deficiency	CPS4	113805,8021
230	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 /Noonan syndrome 10	BRAF	954811,4591
231	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 /Noonan syndrome 7	BRAF	164757
232	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 /Noonan syndrome 8	BRAF	624453,3937
233	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 /Noonan syndrome 9	BRAF	789632,4264
234	Cardiofacioneurodevelopmental syndrome	CCDC32
235	Cardiofacioneurodevelopmental syndrome	CCDC32	176526,315
236	Cardiofacioneurodevelopmental syndrome	CCDC32	-52048,60398
237	Cardiofacioneurodevelopmental syndrome	CCDC32	-280623,5229
238	Cavitating leukoencephalopathy with cytochrome c oxidase deficiency	COA8	616003
239	Cavitating leukoencephalopathy with cytochrome c oxidase deficiency	COA9	373886,4007
240	Cavitating leukoencephalopathy with cytochrome c oxidase deficiency	COA10	263503,356
241	Cavitating leukoencephalopathy with cytochrome c oxidase deficiency	COA11	153120,3112
242	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	CA8	114815
243	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4	CA20	653703,8474
244	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 5	CA32	818882,8801
245	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 6	CA44	984061,9128
246	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	ATP8A2
247	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 5	ATP8A3	560790,6415
248	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 6	ATP8A4	725969,6742
249	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 7	ATP8A5	891148,7069
250	Cerebellar atrophy with seizures and variable developmental delay	CACNA2D2	607082
251	Cerebellar atrophy with seizures and variable developmental delay	CACNA2D4	669189,3817
252	Cerebellar atrophy with seizures and variable developmental delay	CACNA2D6	834368,4144
253	Cerebellar atrophy with seizures and variable developmental delay	CACNA2D8	999547,4471
254	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	CAMTA1	611501
255	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	CAMTA2	682954,3011
256	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	CAMTA3	848133,3338
257	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	CAMTA4	1013312,367
258	Cerebellofaciodental syndrome	BRF1
259	Cerebellofaciodental syndrome	BRF2	629615,2385
260	Cerebellofaciodental syndrome	BRF3	794794,2712
261	Cerebellofaciodental syndrome	BRF4	959973,3039
262	Cerebral palsy, spastic quadriplegic, 3	ADD3	601568
263	Cerebral palsy, spastic quadriplegic, 4	ADD4	601569
264	Cerebral palsy, spastic quadriplegic, 5	ADD5	601570
265	Cerebral palsy, spastic quadriplegic, 6	ADD6	601571
266	Cerebroretinal microangiopathy with calcifications and cysts	CTC1
267	Cerebroretinal microangiopathy with calcifications and cysts	CTC2	311890,4441
268	Cerebroretinal microangiopathy with calcifications and cysts	CTC3	201507,3993
269	Cerebrotendinous xanthomatosis	CYP27A1	606530
270	Cerebrotendinous xanthomatosis	CYP27A2	612756,6088
271	Cerebrotendinous xanthomatosis	CYP27A3	766264,1209
272	Ceroid lipofuscinosis, neuronal, 10	CTSD	116840
273	Ceroid lipofuscinosis, neuronal, 11	CTSD	301305,7686
274	Ceroid lipofuscinosis, neuronal, 11	CLN3	290721,093
275	Ceroid lipofuscinosis, neuronal, 12	CTSD	190922,7238
276	Ceroid lipofuscinosis, neuronal, 13	CLN5	289208,9965
277	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	CTSF	603539
278	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	CTSF	299793,6721
279	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	CTSF	189410,6273
280	Ceroid lipofuscinosis, neuronal, 15	CLN3	180338,0483
281	Ceroid lipofuscinosis, neuronal, 17	CLN5	178825,9518
282	Ceroid lipofuscinosis, neuronal, 3	CLN3	607042
283	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	DNAJC5	611203
284	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	DNAJC5	703055,1454
285	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	DNAJC5	856562,6575
286	Ceroid lipofuscinosis, neuronal, 5	CLN5	608102
287	Ceroid lipofuscinosis, neuronal, 6A	CLN6	606725
288	Ceroid lipofuscinosis, neuronal, 6A	CLN6	398079,9448
289	Ceroid lipofuscinosis, neuronal, 6A	CLN6	287696,9
290	Ceroid lipofuscinosis, neuronal, 6A	CLN6	177313,8553
291	Ceroid lipofuscinosis, neuronal, 7	CLN3	401104,1378
292	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant	CLN8	607837
293	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant	CLN8	396567,8483
294	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant	CLN8	286184,8035
295	Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant	CLN8	175801,7588
296	Ceroid lipofuscinosis, neuronal, 9	CLN5	399592,0413
297	Chanarin-Dorfman syndrome	ABHD5	604780
298	Chanarin-Dorfman syndrome	ABHD6	604780
299	Chanarin-Dorfman syndrome	ABHD7	604780
300	Chanarin-Dorfman syndrome	ABHD8	604780
301	Chilton-Okur-Chung neurodevelopmental syndrome	CDC42BPB
302	Chilton-Okur-Chung neurodevelopmental syndrome	CDC42BPB	85096,34738
303	Chilton-Okur-Chung neurodevelopmental syndrome	CDC42BPB	-143478,5716
304	Chilton-Okur-Chung neurodevelopmental syndrome	CDC42BPB	-372053,4905
305	Chondrodysplasia punctata, X-linked recessive	ARSL	300180
306	Chondrodysplasia punctata, X-linked recessive	ARSL	300181
307	Chondrodysplasia punctata, X-linked recessive	ARSL	300182
308	Chondrodysplasia punctata, X-linked recessive	ARSL	300183
309	Chopra-Amiel-Gordon syndrome	ANKRD17	615929
310	Chopra-Amiel-Gordon syndrome	ANKRD29	154449
311	Chopra-Amiel-Gordon syndrome	ANKRD41	924827
312	Chopra-Amiel-Gordon syndrome	ANKRD53	1695205
313	Citrullinemia	ASS1	603470
314	Citrullinemia	ASS2	256837,9813
315	Citrullinemia	ASS3	82348,68091
316	Citrullinemia	ASS4	-92140,61949
317	Coenzyme Q10 deficiency, primary, 1/{Multiple system atrophy, susceptibility to}	COQ2	609825
318	Coenzyme Q10 deficiency, primary, 1/{Multiple system atrophy, susceptibility to}	COQ8	352717,0497
319	Coenzyme Q10 deficiency, primary, 1/{Multiple system atrophy, susceptibility to}	COQ14	242334,0049
320	Coenzyme Q10 deficiency, primary, 1/{Multiple system atrophy, susceptibility to}	COQ20	131950,9602
321	Coenzyme Q10 deficiency, primary, 4	COQ8A
322	Coenzyme Q10 deficiency, primary, 4	COQ8A	348180,7602
323	Coenzyme Q10 deficiency, primary, 4	COQ8A	237797,7154
324	Coenzyme Q10 deficiency, primary, 4	COQ8A	127414,6706
325	Coenzyme Q10 deficiency, primary, 5	COQ9	612837
326	Coenzyme Q10 deficiency, primary, 5	COQ10	346668,6637
327	Coenzyme Q10 deficiency, primary, 5	COQ11	236285,6189
328	Coenzyme Q10 deficiency, primary, 5	COQ12	125902,5741
329	Coenzyme Q10 deficiency, primary, 6	COQ6	614647
330	Coenzyme Q10 deficiency, primary, 6	COQ12	349692,8567
331	Coenzyme Q10 deficiency, primary, 6	COQ18	239309,8119
332	Coenzyme Q10 deficiency, primary, 6	COQ24	128926,7672
333	Coenzyme Q10 deficiency, primary, 7	COQ4	612898
334	Coenzyme Q10 deficiency, primary, 7	COQ10	351204,9532
335	Coenzyme Q10 deficiency, primary, 7	COQ16	240821,9084
336	Coenzyme Q10 deficiency, primary, 7	COQ22	130438,8637
337	Coffin-Siris syndrome 1, 135900	ARID1B	614556
338	Coffin-Siris syndrome 1, 135901	ARID1B	351218,6967
339	Coffin-Siris syndrome 1, 135902	ARID1B	222497,6291
340	Coffin-Siris syndrome 1, 135903	ARID1B	93776,5614
341	Coffin-Siris syndrome 12	BICRA
342	Coffin-Siris syndrome 13	BICRA	612409,0892
343	Coffin-Siris syndrome 14	BICRA	777588,1219
344	Coffin-Siris syndrome 15	BICRA	942767,1546
345	Coffin-Siris syndrome 2	ARID1A	603024
346	Coffin-Siris syndrome 3	ARID1A	365521,0376
347	Coffin-Siris syndrome 4	ARID1A	236799,9699
348	Coffin-Siris syndrome 5	ARID1A	108078,9023
349	Coffin-Siris syndrome 6	ARID2	609539
350	Coffin-Siris syndrome 7	DPF2
351	Coffin-Siris syndrome 7	ARID3	609540
352	Coffin-Siris syndrome 8	DPF3	728338,7356
353	Coffin-Siris syndrome 8	ARID4	609541
354	Coffin-Siris syndrome 9	DPF4	881846,2477
355	Coffin-Siris syndrome 9	ARID5	609542
356	Cohen-Gibson syndrome	EED
357	Cohen-Gibson syndrome	EED
358	Cohen-Gibson syndrome	EED
359	Combined oxidative phosphorylation deficiency 12	EARS2	612799
360	Combined oxidative phosphorylation deficiency 13	EARS3	624204,2857
361	Combined oxidative phosphorylation deficiency 14	EARS4	638916
362	Combined oxidative phosphorylation deficiency 22/?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4	ATP5F1A	164360
363	Combined oxidative phosphorylation deficiency 22/?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	ATP5F1A	541863,8774
364	Combined oxidative phosphorylation deficiency 22/?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6	ATP5F1A	707042,9101
365	Combined oxidative phosphorylation deficiency 22/?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	ATP5F1A	872221,9428
366	Combined oxidative phosphorylation deficiency 27	CARS2	612800
367	Combined oxidative phosphorylation deficiency 28	CARS4	612801
368	Combined oxidative phosphorylation deficiency 29	CARS6	612802
369	Combined oxidative phosphorylation deficiency 30	CARS8	612803
370	Combined oxidative phosphorylation deficiency 53	C2orf69
371	Combined oxidative phosphorylation deficiency 54	C2orf70	650262,6176
372	Combined oxidative phosphorylation deficiency 55	C2orf71	815441,6503
373	Combined oxidative phosphorylation deficiency 56	C2orf72	980620,683
374	Combined oxidative phosphorylation deficiency 6	AIFM1	300169
375	Combined oxidative phosphorylation deficiency 7	AIFM2	300170
376	Combined oxidative phosphorylation deficiency 8	AIFM3	300171
377	Combined oxidative phosphorylation deficiency 8/Leukoencephalopathy, progressive, with ovarian failure	AARS2	612035
378	Combined oxidative phosphorylation deficiency 8/Leukoencephalopathy, progressive, with ovarian failure	AARS4	633975
379	Combined oxidative phosphorylation deficiency 8/Leukoencephalopathy, progressive, with ovarian failure	AARS6	655915
380	Combined oxidative phosphorylation deficiency 8/Leukoencephalopathy, progressive, with ovarian failure	AARS8	677855
381	Combined oxidative phosphorylation deficiency 9	AIFM4	300172
382	Condition	Gene	OMIM ID
383	Condition	Gene	OMIM ID
384	Condition	Gene	OMIM ID
385	Congenital cataracts, facial dysmorphism, and neuropathy	CTDP1
386	Congenital cataracts, facial dysmorphism, and neuropathy	CTDP2	308866,2511
387	Congenital cataracts, facial dysmorphism, and neuropathy	CTDP3	198483,2063
388	Congenital disorder of glycosylation type Il 608776	ALG9	606941
389	Congenital disorder of glycosylation type Il 608777	ALG9	417097,875
390	Congenital disorder of glycosylation type Il 608778	ALG9	343166,25
391	Congenital disorder of glycosylation type Il 608779	ALG9	269234,625
392	Congenital disorder of glycosylation, type Ic 603147	ALG6	604566
393	Congenital disorder of glycosylation, type Ic 603148	ALG6	425795,7132
394	Congenital disorder of glycosylation, type Ic 603149	ALG6	351864,0882
395	Congenital disorder of glycosylation, type Ic 603150	ALG6	277932,4632
396	Congenital disorder of glycosylation, type Id 601110	ALG3	608750
397	Congenital disorder of glycosylation, type Id 601111	ALG3	430144,6324
398	Congenital disorder of glycosylation, type Id 601112	ALG3	356213,0074
399	Congenital disorder of glycosylation, type Id 601113	ALG3	282281,3824
400	Congenital disorder of glycosylation, type Ie	DPM1	603503
401	Congenital disorder of glycosylation, type Ie	DPM4	735562,6185
402	Congenital disorder of glycosylation, type Ie	DPM7	889070,1306
403	Congenital disorder of glycosylation, type Ig	ALG12	607144
404	Congenital disorder of glycosylation, type Ig	ALG2	607905
405	Congenital disorder of glycosylation, type Ig	ALG12	447540,3088
406	Congenital disorder of glycosylation, type Ig	ALG2	434493,5515
407	Congenital disorder of glycosylation, type Ig	ALG12	373608,6838
408	Congenital disorder of glycosylation, type Ig	ALG2	360561,9265
409	Congenital disorder of glycosylation, type Ig	ALG12	299677,0588
410	Congenital disorder of glycosylation, type Ig	ALG2	286630,3015
411	Congenital disorder of glycosylation, type Ih	ALG8	608103
412	Congenital disorder of glycosylation, type Ih	ALG8	421446,7941
413	Congenital disorder of glycosylation, type Ih	ALG8	347515,1691
414	Congenital disorder of glycosylation, type Ih	ALG8	273583,5441
415	Congenital disorder of glycosylation, type Iid	B4GALT1
416	Congenital disorder of glycosylation, type Iid	B4GALT2	577996,7908
417	Congenital disorder of glycosylation, type Iid	B4GALT3	743175,8235
418	Congenital disorder of glycosylation, type Iid	B4GALT4	908354,8562
419	Congenital disorder of glycosylation, type Iie	COG7	606978
420	Congenital disorder of glycosylation, type Iie	COG7	364813,8217
421	Congenital disorder of glycosylation, type Iie	COG7	254430,7769
422	Congenital disorder of glycosylation, type Iie	COG7	144047,7322
423	Congenital disorder of glycosylation, type Iig	COG1
424	Congenital disorder of glycosylation, type Iig	COG1	370862,2077
425	Congenital disorder of glycosylation, type Iig	COG1	260479,163
426	Congenital disorder of glycosylation, type Iig	COG1	150096,1182
427	Congenital disorder of glycosylation, type Iih	COG8	606979
428	Congenital disorder of glycosylation, type Iih	COG8	363301,7252
429	Congenital disorder of glycosylation, type Iih	COG8	252918,6804
430	Congenital disorder of glycosylation, type Iih	COG8	142535,6357
431	Congenital disorder of glycosylation, type Iii	COG5	606821
432	Congenital disorder of glycosylation, type Iii	COG5	367838,0147
433	Congenital disorder of glycosylation, type Iii	COG5	257454,97
434	Congenital disorder of glycosylation, type Iii	COG5	147071,9252
435	Congenital disorder of glycosylation, type Iij, Saul-Wilson syndrome	COG4	606976
436	Congenital disorder of glycosylation, type Iij, Saul-Wilson syndrome	COG4	369350,1112
437	Congenital disorder of glycosylation, type Iij, Saul-Wilson syndrome	COG4	258967,0665
438	Congenital disorder of glycosylation, type Iij, Saul-Wilson syndrome	COG4	148584,0217
439	Congenital disorder of glycosylation, type Iil/ Shaheen syndrome	COG6	606977
440	Congenital disorder of glycosylation, type Iil/ Shaheen syndrome	COG6	366325,9182
441	Congenital disorder of glycosylation, type Iil/ Shaheen syndrome	COG6	255942,8734
442	Congenital disorder of glycosylation, type Iil/ Shaheen syndrome	COG6	145559,8287
443	Congenital disorder of glycosylation, type Iiv	EDEM3
444	Congenital disorder of glycosylation, type Iiv	EDEM4
445	Congenital disorder of glycosylation, type Iiv	EDEM5
446	Congenital disorder of glycosylation, type Ij / Myasthenic syndrome, congenital, 13, with tubular aggregates	DPAGT1	191350
447	Congenital disorder of glycosylation, type Ij / Myasthenic syndrome, congenital, 13, with tubular aggregates	DPAGT2	726532,7649
448	Congenital disorder of glycosylation, type Ij / Myasthenic syndrome, congenital, 13, with tubular aggregates	DPAGT3	880040,277
449	Congenital disorder of glycosylation, type Ik 608540	ALG1	605907
450	Congenital disorder of glycosylation, type Ik 608541	ALG1	456238,1471
451	Congenital disorder of glycosylation, type Ik 608542	ALG1	382306,5221
452	Congenital disorder of glycosylation, type Ik 608543	ALG1	308374,8971
453	Congenital disorder of glycosylation, type Im	DOLK	610746
454	Congenital disorder of glycosylation, type Im	DOLK	722920,8234
455	Congenital disorder of glycosylation, type Im	DOLK	876428,3355
456	Congenital disorder of glycosylation, type Ip	ALG11	613666
457	Congenital disorder of glycosylation, type Ip	ALG11	451889,2279
458	Congenital disorder of glycosylation, type Ip	ALG11	377957,6029
459	Congenital disorder of glycosylation, type Ip	ALG11	304025,9779
460	Congenital disorder of glycosylation, type Ir	DDOST
461	Congenital disorder of glycosylation, type Ir	DDOST	641652,1405
462	Congenital disorder of glycosylation, type Ir	DDOST	795159,6526
463	Congenital disorder of glycosylation, type Iu	DPM2	603564
464	Congenital disorder of glycosylation, type Iu	DPM5	737368,5892
465	Congenital disorder of glycosylation, type Iu	DPM8	890876,1013
466	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13
467	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK25
468	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK37
469	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK49
470	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494;Global developmental delay;Intellectual disability;Seizures;Generalized hypotonia	ATN1	607462
471	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494;Global developmental delay;Intellectual disability;Seizures;Generalized hypotonia	ATN2	529819,5729
472	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494;Global developmental delay;Intellectual disability;Seizures;Generalized hypotonia	ATN3	694998,6056
473	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494;Global developmental delay;Intellectual disability;Seizures;Generalized hypotonia	ATN4	860177,6383
474	Cornelia de Lange syndrome (CdLS)	BRD4
475	Cornelia de Lange syndrome (CdLS)	BRD5	627894,6236
476	Cornelia de Lange syndrome (CdLS)	BRD6	793073,6563
477	Cornelia de Lange syndrome (CdLS)	BRD7	958252,689
478	Cortical dysplasia, complex, with other brain malformations 10	CTNNA3	307354,1546
479	Cortical dysplasia, complex, with other brain malformations 10/Intellectual developmental disorder, autosomal recessive 74	APC2	612034
480	Cortical dysplasia, complex, with other brain malformations 10/Intellectual developmental disorder, autosomal recessive 75	APC3	870225,2262
481	Cortical dysplasia, complex, with other brain malformations 10/Intellectual developmental disorder, autosomal recessive 76	APC4	1080827,036
482	Cortical dysplasia, complex, with other brain malformations 10/Intellectual developmental disorder, autosomal recessive 77	APC5	1291428,845
483	Cortical dysplasia, complex, with other brain malformations 11	CTNNA4	196971,1098
484	Cortical dysplasia, complex, with other brain malformations 9	CTNNA2	114025
485	Cutis laxa, autosomal dominant 3/ Cutis laxa, autosomal recessive, type IIIA	ALDH18A1	138250
486	Cutis laxa, autosomal dominant 3/ Cutis laxa, autosomal recessive, type IIIA	ALDH18A2	242228,2
487	Cutis laxa, autosomal dominant 3/ Cutis laxa, autosomal recessive, type IIIA	ALDH18A3	16841,7
488	Cutis laxa, autosomal dominant 3/ Cutis laxa, autosomal recessive, type IIIA	ALDH18A4	-208544,8
489	Cutis laxa, autosomal recessive, type IIA / Wrinkly skin syndrome	ATP6V0A2	611716
490	Cutis laxa, autosomal recessive, type IIA / Wrinkly skin syndrome	ATP6V0A4	550466,952
491	Cutis laxa, autosomal recessive, type IIA / Wrinkly skin syndrome	ATP6V0A6	715645,9847
492	Cutis laxa, autosomal recessive, type IIA / Wrinkly skin syndrome	ATP6V0A8	880825,0174
493	Cutis laxa, autosomal recessive, type IID / Developmental and epileptic encephalopathy 93	ATP6V1A	607027
494	Cutis laxa, autosomal recessive, type IID / Developmental and epileptic encephalopathy 94	ATP6V1A	553908,1818
495	Cutis laxa, autosomal recessive, type IID / Developmental and epileptic encephalopathy 95	ATP6V1A	719087,2145
496	Cutis laxa, autosomal recessive, type IID / Developmental and epileptic encephalopathy 96	ATP6V1A	884266,2472
D
497	D-2-hydroxyglutaric aciduria	D2HGDH	609186
498	D-2-hydroxyglutaric aciduria	D2HGDH	616368,5503
499	D-2-hydroxyglutaric aciduria	D2HGDH	769876,0624
500	Deafness, dystonia, and cerebral hypomyelination	BCAP31
501	Deafness, dystonia, and cerebral hypomyelination	BCAP32	593482,3251
502	Deafness, dystonia, and cerebral hypomyelination	BCAP33	758661,3578
503	Deafness, dystonia, and cerebral hypomyelination	BCAP34	923840,3905
504	Desmosterolosis	DHCR24	606418
505	Desmosterolosis	DHCR10	659711,8478
506	Desmosterolosis	DHCR44	813219,3599
507	Developmental and epileptic encephalopathy	CHRM1
508	Developmental and epileptic encephalopathy	CHRM2
509	Developmental and epileptic encephalopathy	CHRM3
510	Developmental and epileptic encephalopathy	CHRM4
511	Developmental and epileptic encephalopathy	CSNK1G1	606274
512	Developmental and epileptic encephalopathy	CSNK1G2	322475,1196
513	Developmental and epileptic encephalopathy	CSNK1G3	212092,0748
514	Developmental and epileptic encephalopathy 100	CELF5	602541
515	Developmental and epileptic encephalopathy 104/Neurodevelopmental disorder with epilepsy and brain atrophy	ATP6V0A1	192130
516	Developmental and epileptic encephalopathy 104/Neurodevelopmental disorder with epilepsy and brain atrophy	ATP6V0A3	548746,337
517	Developmental and epileptic encephalopathy 104/Neurodevelopmental disorder with epilepsy and brain atrophy	ATP6V0A5	713925,3698
518	Developmental and epileptic encephalopathy 104/Neurodevelopmental disorder with epilepsy and brain atrophy	ATP6V0A7	879104,4025
519	Developmental and epileptic encephalopathy 110	CACNA2D1
520	Developmental and epileptic encephalopathy 111	CACNA2D3	667468,7668
521	Developmental and epileptic encephalopathy 112	CACNA2D5	832647,7995
522	Developmental and epileptic encephalopathy 113	CACNA2D7	997826,8322
523	Developmental and epileptic encephalopathy 2	CDKL5	300203
524	Developmental and epileptic encephalopathy 23	DOCK7	615730
525	Developmental and epileptic encephalopathy 24	DOCK7	719308,8819
526	Developmental and epileptic encephalopathy 25	DOCK7	872816,394
527	Developmental and epileptic encephalopathy 3	CDKL6	-101448,3077
528	Developmental and epileptic encephalopathy 31	DNM1	602377
529	Developmental and epileptic encephalopathy 32	DNM2	706667,0868
530	Developmental and epileptic encephalopathy 33	DNM3	860174,5989
531	Developmental and epileptic encephalopathy 36 / Congenital disorder of glycosylation, type Is;Infantile spasms and LGS	ALG13	300776
532	Developmental and epileptic encephalopathy 36 / Congenital disorder of glycosylation, type Is;Infantile spasms and LGS	ALG13	443191,3897
533	Developmental and epileptic encephalopathy 36 / Congenital disorder of glycosylation, type Is;Infantile spasms and LGS	ALG13	369259,7647
534	Developmental and epileptic encephalopathy 36 / Congenital disorder of glycosylation, type Is;Infantile spasms and LGS	ALG13	295328,1397
535	Developmental and epileptic encephalopathy 4	CDKL7	-514202,1538
536	Developmental and epileptic encephalopathy 42 / Episodic ataxia, type 2 / Migraine, familial hemiplegic, 1 / Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia / Spinocerebellar ataxia 6	CACNA1A	601011
537	Developmental and epileptic encephalopathy 42 / Episodic ataxia, type 2 / Migraine, familial hemiplegic, 1 / Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia / Spinocerebellar ataxia 7	CACNA1A	655424,4623
538	Developmental and epileptic encephalopathy 42 / Episodic ataxia, type 2 / Migraine, familial hemiplegic, 1 / Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia / Spinocerebellar ataxia 8	CACNA1A	820603,495
539	Developmental and epileptic encephalopathy 42 / Episodic ataxia, type 2 / Migraine, familial hemiplegic, 1 / Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia / Spinocerebellar ataxia 9	CACNA1A	985782,5277
540	Developmental and epileptic encephalopathy 49	DENND5A	617278
541	Developmental and epileptic encephalopathy 5	CDKL8	-926956
542	Developmental and epileptic encephalopathy 50	CAD	114010
543	Developmental and epileptic encephalopathy 50	DENND5A	656099,9064
544	Developmental and epileptic encephalopathy 51	CAD	674351,2265
545	Developmental and epileptic encephalopathy 51	DENND5A	809607,4185
546	Developmental and epileptic encephalopathy 52	CAD	839530,2592
547	Developmental and epileptic encephalopathy 53	CAD	1004709,292
548	Developmental and epileptic encephalopathy 60	CNPY3	610774
549	Developmental and epileptic encephalopathy 61	ADAM22	603709
550	Developmental and epileptic encephalopathy 61	CNPY4	379934,7867
551	Developmental and epileptic encephalopathy 62	ADAM23	711250,4276
552	Developmental and epileptic encephalopathy 62	CNPY5	269551,742
553	Developmental and epileptic encephalopathy 63	CPLX1	605032
554	Developmental and epileptic encephalopathy 63	ADAM24	990771,7911
555	Developmental and epileptic encephalopathy 63	CNPY6	159168,6972
556	Developmental and epileptic encephalopathy 64	CPLX2	336083,9881
557	Developmental and epileptic encephalopathy 64	ADAM25	1270293,155
558	Developmental and epileptic encephalopathy 65	CYFIP2	606323
559	Developmental and epileptic encephalopathy 65	CPLX3	225700,9434
560	Developmental and epileptic encephalopathy 66	CYFIP3	610950,6381
561	Developmental and epileptic encephalopathy 66	CPLX4	115317,8986
562	Developmental and epileptic encephalopathy 67	CUX2	610648
563	Developmental and epileptic encephalopathy 67	CYFIP4	764458,1502
564	Developmental and epileptic encephalopathy 68	CUX4	601920,7845
565	Developmental and epileptic encephalopathy 69	CUX6	755428,2966
566	Developmental and epileptic encephalopathy 69	CACNA1E	601013
567	Developmental and epileptic encephalopathy 70	CACNA1E	662306,922
568	Developmental and epileptic encephalopathy 71	CACNA1E	827485,9547
569	Developmental and epileptic encephalopathy 72	CACNA1E	992664,9874
570	Developmental and epileptic encephalopathy 81	DMXL2	612186
571	Developmental and epileptic encephalopathy 82	DMXL3	697637,2332
572	Developmental and epileptic encephalopathy 83	DMXL4	851144,7453
573	Developmental and epileptic encephalopathy 86	DALRD3
574	Developmental and epileptic encephalopathy 87	CDK19	614720
575	Developmental and epileptic encephalopathy 87	DALRD4	621786,4625
576	Developmental and epileptic encephalopathy 88	CDK31	614721
577	Developmental and epileptic encephalopathy 88	DALRD5	775293,9746
578	Developmental and epileptic encephalopathy 89	CDK43	614722
579	Developmental and epileptic encephalopathy 90	CDK55	614723
580	Developmental and epileptic encephalopathy 94	CHD2	602119
581	Developmental and epileptic encephalopathy 95	CHD2	602581,6445
582	Developmental and epileptic encephalopathy 96	CHD2	597338,6055
583	Developmental and epileptic encephalopathy 97	CELF2	602538
584	Developmental and epileptic encephalopathy 97	CHD2	592095,5664
585	Developmental and epileptic encephalopathy 98	CELF3	602539
586	Developmental and epileptic encephalopathy 99	CELF4	602540
587	Developmental and epileptic encephalopathy, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004	ARX	300382
588	Developmental and epileptic encephalopathy, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300005	ARX	373164,1816
589	Developmental and epileptic encephalopathy, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300006	ARX	198674,8812
590	Developmental and epileptic encephalopathy, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300007	ARX	24185,58077
591	Developmental delay & macrocephaly	ATXN2L
592	Developmental delay & macrocephaly	ATXN2L	567673,1012
593	Developmental delay & macrocephaly	ATXN2L	732852,1339
594	Developmental delay & macrocephaly	ATXN2L	898031,1666
595	Developmental delay and seizures with or without movement abnormalities / Retinitis pigmentosa 59	DHDDS	608172
596	Developmental delay and seizures with or without movement abnormalities / Retinitis pigmentosa 60	DHDDS	663323,7893
597	Developmental delay and seizures with or without movement abnormalities / Retinitis pigmentosa 61	DHDDS	816831,3014
598	Developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH1
599	Developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH1	730144,7063
600	Developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH1	883652,2184
601	Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	DPH2
602	Developmental delay with short stature, dysmorphic facial features, and sparse hair 3	DPH2	731950,6771
603	Developmental delay with short stature, dysmorphic facial features, and sparse hair 4	DPH2	885458,1891
604	Developmental delay, epilepsy and brain abnormalities	ARF3
605	Developmental delay, epilepsy and brain abnormalities	ARF7	451335,0827
606	Developmental delay, epilepsy and brain abnormalities	ARF11	322614,015
607	Developmental delay, epilepsy and brain abnormalities	ARF15	193892,9474
608	Developmental delay, hyperactivity, short attention span & speech delay	CHL1
609	Developmental delay, hyperactivity, short attention span & speech delay	CHL2
610	Developmental delay, hyperactivity, short attention span & speech delay	CHL3
611	Developmental delay, hyperactivity, short attention span & speech delay	CHL4
612	Developmental delay, hypotonia, epilepsy, dysmorphic facial features and odema	DNM3	611445
613	Developmental delay, hypotonia, epilepsy, dysmorphic facial features and odema	DNM4	710279,0283
614	Developmental delay, hypotonia, epilepsy, dysmorphic facial features and odema	DNM5	863786,5404
615	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	ARFGEF1	604141
616	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	ARFGEF3	437032,7419
617	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	ARFGEF5	308311,6742
618	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	ARFGEF7	179590,6065
619	Developmental delay/intellectual disability, seizures.	CNOT9
620	Developmental delay/intellectual disability, seizures.	CNOT9	381446,8832
621	Developmental delay/intellectual disability, seizures.	CNOT9	271063,8385
622	Developmental delay/intellectual disability, seizures.	CNOT9	160680,7937
623	Dias-Logan syndrome	BCL11A
624	Dias-Logan syndrome	BCL11A	602085,3997
625	Dias-Logan syndrome	BCL11A	767264,4324
626	Dias-Logan syndrome	BCL11A	932443,4651
627	Dihydrolipoamide dehydrogenase deficiency	DLD	238331
628	Dihydrolipoamide dehydrogenase deficiency	DLD	686801,4088
629	Dihydrolipoamide dehydrogenase deficiency	DLD	840308,9209
630	Dihydropyrimidinuria	DPYS
631	Dihydropyrimidinuria	DPYS	744592,4722
632	Dihydropyrimidinuria	DPYS	898099,9843
633	Duchenne muscular dystrophy / Cardiomyopathy, dilated, 3B / Becker muscular dystrophy	DMD	300377
634	Duchenne muscular dystrophy / Cardiomyopathy, dilated, 3B / Becker muscular dystrophy	DMD	695831,2624
635	Duchenne muscular dystrophy / Cardiomyopathy, dilated, 3B / Becker muscular dystrophy	DMD	849338,7745
636	Dyggve-Melchior-Clausen disease	DYM
637	Dyggve-Melchior-Clausen disease	DYM
638	Dyggve-Melchior-Clausen disease	DYM
639	Dyskeratosis congenita, X-linked	DKC1	300126
640	Dyskeratosis congenita, X-linked	DKC2	683189,4673
641	Dyskeratosis congenita, X-linked	DKC3	836696,9794
642	Dyskinesia with orofacial involvement, autosomal dominant/ Dyskinesia with orofacial involvement, autosomal recessive/ Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	ADCY5	600293
643	Dyskinesia with orofacial involvement, autosomal dominant/ Dyskinesia with orofacial involvement, autosomal recessive/ Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	ADCY6	804424,2154
644	Dyskinesia with orofacial involvement, autosomal dominant/ Dyskinesia with orofacial involvement, autosomal recessive/ Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	ADCY7	1083945,579
645	Dyskinesia with orofacial involvement, autosomal dominant/ Dyskinesia with orofacial involvement, autosomal recessive/ Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	ADCY8	1363466,942
E
646	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 / Optic atrophy 5	DNM1L	603850
647	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 / Optic atrophy 6	DNM1L	708473,0576
648	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 / Optic atrophy 7	DNM1L	861980,5696
649	Encephalopathy, progressive, with or without lipodystrophy / Lipodystrophy, congenital generalized, type 2 / Neuropathy, distal hereditary motor, type VC / Silver spastic paraplegia syndrome	BSCL2	606158
650	Encephalopathy, progressive, with or without lipodystrophy / Lipodystrophy, congenital generalized, type 2 / Neuropathy, distal hereditary motor, type VC / Silver spastic paraplegia syndrome	BSCL3	636497,6982
651	Encephalopathy, progressive, with or without lipodystrophy / Lipodystrophy, congenital generalized, type 2 / Neuropathy, distal hereditary motor, type VC / Silver spastic paraplegia syndrome	BSCL4	801676,7309
652	Encephalopathy, progressive, with or without lipodystrophy / Lipodystrophy, congenital generalized, type 2 / Neuropathy, distal hereditary motor, type VC / Silver spastic paraplegia syndrome	BSCL5	966855,7636
653	Epilepsy, childhood-onset/ Neurodevelopmental disorder	ADGRL1	620065
654	Epilepsy, childhood-onset/ Neurodevelopmental disorder	ADGRL2	607120,1667
655	Epilepsy, childhood-onset/ Neurodevelopmental disorder	ADGRL3	605231,6667
656	Epilepsy, childhood-onset/ Neurodevelopmental disorder	ADGRL4	603343,1667
657	Epilepsy, early-onset, 3, with or without developmental delay	ATP6V0C
658	Epilepsy, early-onset, 3, with or without developmental delay	ATP6V0C	552187,5669
659	Epilepsy, early-onset, 3, with or without developmental delay	ATP6V0C	717366,5996
660	Epilepsy, early-onset, 3, with or without developmental delay	ATP6V0C	882545,6323
661	Epilepsy, familial adult myoclonic	ADRA2B	104260
662	Epilepsy, familial adult myoclonic	ADRA2B	398134,781
663	Epilepsy, familial adult myoclonic	ADRA2B	316688,7238
664	Epilepsy, familial adult myoclonic	ADRA2B	235242,6667
665	Epilepsy, familial focal, with variable foci 1	DEPDC5	614191
666	Epilepsy, familial focal, with variable foci 2	DEPDC6	657905,8771
667	Epilepsy, familial focal, with variable foci 3	DEPDC7	811413,3892
668	Epilepsy, familial temporal lobe, 5/Febrile seizures, familial, 11	CPA6	609562
669	Epilepsy, familial temporal lobe, 5/Febrile seizures, familial, 12	CPA7	340620,2776
670	Epilepsy, familial temporal lobe, 5/Febrile seizures, familial, 13	CPA8	230237,2329
671	Epilepsy, familial temporal lobe, 5/Febrile seizures, familial, 14	CPA9	119854,1881
672	Epilepsy, myoclonic, familial adult, 5	CNTN2	190197
673	Epilepsy, myoclonic, familial adult, 6	CNTN3	378422,6902
674	Epilepsy, myoclonic, familial adult, 7	CNTN4	268039,6455
675	Epilepsy, myoclonic, familial adult, 8	CNTN5	157656,6007
676	Epilepsy, nocturnal frontal lobe, 1	CHRNA4	118504
677	Epilepsy, nocturnal frontal lobe, 11	CHRNB4	1616915,868
678	Epilepsy, nocturnal frontal lobe, 13	CHRNA16	2191893,604
679	Epilepsy, nocturnal frontal lobe, 15	CHRNB5	2287723,226
680	Epilepsy, nocturnal frontal lobe, 3	CHRNB2	118507
681	Epilepsy, nocturnal frontal lobe, 5	CHRNA8	850278,8868
682	Epilepsy, nocturnal frontal lobe, 7	CHRNB3	946108,5094
683	Epilepsy, nocturnal frontal lobe, 9	CHRNA12	1521086,245
684	Epilepsy, nocturnal frontal lobe, type 4	CHRNA2	118502
685	Epilepsy, nocturnal frontal lobe, type 5	CHRNA6	754449,2642
686	Epilepsy, nocturnal frontal lobe, type 6	CHRNA10	1425256,623
687	Epilepsy, nocturnal frontal lobe, type 7	CHRNA14	2096063,981
688	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	CSTB	601145
689	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	CSTB	316426,7336
690	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	CSTB	206043,6888
691	Epilepsy, progressive myoclonic, 10	CERS5	599189,0898
692	Epilepsy, progressive myoclonic, 11	CERS7	593946,0508
693	Epilepsy, progressive myoclonic, 8	CERS1	606919
694	Epilepsy, progressive myoclonic, 9	CERS3	604432,1289
695	Epilepsy, pyridoxine-dependent 266100	ALDH7A1	107323
696	Epilepsy, pyridoxine-dependent 266101	ALDH7A2	464935,9853
697	Epilepsy, pyridoxine-dependent 266102	ALDH7A3	391004,3603
698	Epilepsy, pyridoxine-dependent 266103	ALDH7A4	317072,7353
699	Epileptic encephalopathy, early infantile, 29 616339	AARS1	601065
700	Epileptic encephalopathy, early infantile, 29 616340	AARS3	623005
701	Epileptic encephalopathy, early infantile, 29 616341	AARS5	644945
702	Epileptic encephalopathy, early infantile, 29 616342	AARS7	666885
703	Epileptic encephalopathy, early infantile, 38 617020	ARV1	611647
704	Epileptic encephalopathy, early infantile, 38 617021	ARV2	387704,9566
705	Epileptic encephalopathy, early infantile, 38 617022	ARV3	213215,6562
706	Epileptic encephalopathy, early infantile, 38 617023	ARV4	38726,35581
707	Epileptic encephalopathy, early infantile, 48 617276	AP3B2	602166
708	Epileptic encephalopathy, early infantile, 48 617277	AP3B3	738599,0952
709	Epileptic encephalopathy, early infantile, 48 617278	AP3B4	949200,9048
710	Epileptic encephalopathy, early infantile, 48 617279	AP3B5	1159802,714
711	Epileptic encephalopathy, early infantile, 76, 618468;Global developmental delay;Intellectual disability;Seizures;Spasticity;epileptic encephalopathy	ACTL6B	612458
712	Epileptic encephalopathy, early infantile, 76, 618468;Global developmental delay;Intellectual disability;Seizures;Spasticity;epileptic encephalopathy	ACTL6B	664663,5336
713	Epileptic encephalopathy, early infantile, 76, 618468;Global developmental delay;Intellectual disability;Seizures;Spasticity;epileptic encephalopathy	ACTL6B	944184,8972
714	Epileptic encephalopathy, early infantile, 76, 618468;Global developmental delay;Intellectual disability;Seizures;Spasticity;epileptic encephalopathy	ACTL6B	1223706,261
715	Epileptic encephalopathy, early infantile, 8 300607	ARHGEF9	300429
716	Epileptic encephalopathy, early infantile, 8 300608	ARHGEF15	379823,3784
717	Epileptic encephalopathy, early infantile, 8 300609	ARHGEF21	251102,3108
718	Epileptic encephalopathy, early infantile, 8 300610	ARHGEF27	122381,2431
719	Episodic ataxia, type 5 / {Epilepsy, idiopathic generalized, susceptibility to, 9}	CACNB4	601949
720	Episodic ataxia, type 5 / {Epilepsy, idiopathic generalized, susceptibility to, 9}	CACNB5	670909,9967
721	Episodic ataxia, type 5 / {Epilepsy, idiopathic generalized, susceptibility to, 9}	CACNB6	836089,0294
722	Episodic ataxia, type 5 / {Epilepsy, idiopathic generalized, susceptibility to, 9}	CACNB7	1001268,062
F
723	Febrile seizures, familial, 4	ADGRV1	602851
724	Febrile seizures, familial, 5	ADGRV2	606490,6667
725	Febrile seizures, familial, 6	ADGRV3	604602,1667
726	Febrile seizures, familial, 7	ADGRV4	602713,6667
727	Filippi syndrome	CKAP2L
728	Filippi syndrome	CKAP2L	1233597,377
729	Filippi syndrome	CKAP2L	1904404,736
730	Filippi syndrome	CKAP2L	2575212,094
731	Frontonasal dysplasia 1	ALX3	136760
732	Frontonasal dysplasia 2	ALX4	615529
733	Frontonasal dysplasia 3	ALX5	404051,1176
734	Frontonasal dysplasia 4	ALX6	399702,1985
735	Frontonasal dysplasia 5	ALX7	330119,4926
736	Frontonasal dysplasia 6	ALX8	325770,5735
737	Frontonasal dysplasia 7	ALX9	256187,8676
738	Frontonasal dysplasia 8	ALX10	251838,9485
G
739	GABA-transaminase deficiency 613163	ABAT	137150
740	GABA-transaminase deficiency 613164	ABAT	710486,3333
741	GABA-transaminase deficiency 613165	ABAT	1406919,833
742	GABA-transaminase deficiency 613166	ABAT	2103353,333
743	GAPO syndrome	ANTXR1	230740
744	GAPO syndrome	ANTXR2	539638
745	GAPO syndrome	ANTXR3	1310016
746	GAPO syndrome	ANTXR4	2080394
747	Galactosialidosis	CTSA
748	Galactosialidosis	CTSA	302817,8651
749	Galactosialidosis	CTSA	192434,8203
750	Global developmental delay with or without impaired intellectual development	CUX1	116896
751	Global developmental delay with or without impaired intellectual development	CUX3	600114,8137
752	Global developmental delay with or without impaired intellectual development	CUX5	753622,3258
753	Global developmental delay, epilepsy, hypotonia, hearing loss, hyperopia, and strabismus??	DMBX1	607410
754	Global developmental delay, epilepsy, hypotonia, hearing loss, hyperopia, and strabismus??	DMBX2	694025,2917
755	Global developmental delay, epilepsy, hypotonia, hearing loss, hyperopia, and strabismus??	DMBX3	847532,8038
756	Global developmental delay, microcephaly, truncal obesity, and dysmorphic facies	ARL14EP
757	Global developmental delay, microcephaly, truncal obesity, and dysmorphic facies	ARL14EP
758	Global developmental delay, microcephaly, truncal obesity, and dysmorphic facies	ARL14EP
759	Global developmental delay, microcephaly, truncal obesity, and dysmorphic facies	ARL14EP
760	Glycine encephalopathy 605899	AMT	238310
761	Glycine encephalopathy 605900	AMT	939783,3
762	Glycine encephalopathy 605901	AMT	1629281,8
763	Glycine encephalopathy 605902	AMT	2318780,3
764	Glycogen storage disease XII	ALDOA	611881
765	Glycogen storage disease XII	ALDOA	460587,0662
766	Glycogen storage disease XII	ALDOA	386655,4412
767	Glycogen storage disease XII	ALDOA	312723,8162
H
768	HGMD: Agenesis of corpus callosum/developmental delay/microcephaly/seizures	ASTN1	600904
769	HGMD: Agenesis of corpus callosum/developmental delay/microcephaly/seizures	ASTN2	242297,2063
770	HGMD: Agenesis of corpus callosum/developmental delay/microcephaly/seizures	ASTN3	67807,90587
771	HGMD: Agenesis of corpus callosum/developmental delay/microcephaly/seizures	ASTN4	-106681,3945
772	Harel-Yoon syndrome/Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 618810 AR 3	ATAD3A	3
773	Harel-Yoon syndrome/Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 618810 AR 3	ATAD3A	521216,4983
774	Harel-Yoon syndrome/Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 618810 AR 3	ATAD3A	686395,531
775	Harel-Yoon syndrome/Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 618810 AR 3	ATAD3A	851574,5637
776	Helsmoortel-van der Aa syndrome	ADNP	611386
777	Helsmoortel-van der Aa syndrome	ADNP	425283,4667
778	Helsmoortel-van der Aa syndrome	ADNP	343837,4095
779	Helsmoortel-van der Aa syndrome	ADNP	262391,3524
780	Hengel-Maroofian-Schols syndrome	BCAS3
781	Hengel-Maroofian-Schols syndrome	BCAS4	595202,94
782	Hengel-Maroofian-Schols syndrome	BCAS5	760381,9727
783	Hengel-Maroofian-Schols syndrome	BCAS6	925561,0054
784	Hennekam lymphangiectasia-lymphedema syndrome 1	CCBE1
785	Hennekam lymphangiectasia-lymphedema syndrome 2	CCBE2	210812,5528
786	Hennekam lymphangiectasia-lymphedema syndrome 3	CCBE3	-17762,36614
787	Hennekam lymphangiectasia-lymphedema syndrome 4	CCBE4	-246337,2851
788	Heyn-Sproul-Jackson syndrome / Tatton-Brown-Rahman syndrome	DNMT3A	602769
789	Heyn-Sproul-Jackson syndrome / Tatton-Brown-Rahman syndrome	DNMT3A	712084,999
790	Heyn-Sproul-Jackson syndrome / Tatton-Brown-Rahman syndrome	DNMT3A	865592,5111
791	Holoprosencephaly 11	CDON
792	Holoprosencephaly 12	CDON
793	Holoprosencephaly 12, with or without pancreatic agenesis/ Vissers-Bodmer syndrome	CNOT1
794	Holoprosencephaly 12, with or without pancreatic agenesis/ Vissers-Bodmer syndrome	CNOT1	385983,1728
795	Holoprosencephaly 12, with or without pancreatic agenesis/ Vissers-Bodmer syndrome	CNOT1	275600,128
796	Holoprosencephaly 12, with or without pancreatic agenesis/ Vissers-Bodmer syndrome	CNOT1	165217,0832
797	Holoprosencephaly 13	CDON
798	Holoprosencephaly 14	CDON
799	Homocystinuria, B6-responsive and nonresponsive types / Thrombosis, hyperhomocysteinemic	CBS	613381
800	Homocystinuria, B6-responsive and nonresponsive types / Thrombosis, hyperhomocysteinemic	CBS	245098,7906
801	Homocystinuria, B6-responsive and nonresponsive types / Thrombosis, hyperhomocysteinemic	CBS	16523,8717
802	Homocystinuria, B6-responsive and nonresponsive types / Thrombosis, hyperhomocysteinemic	CBS	-212051,0472
803	Hyperekplexia 4	ATAD1	614452
804	Hyperekplexia 5	ATAD2	614453
805	Hyperekplexia 6	ATAD3	614454
806	Hyperekplexia 7	ATAD4	614455
807	Hyperlysinemia	AASS	605113
808	Hyperlysinemia	AASS	605114
809	Hyperlysinemia	AASS	605115
810	Hyperlysinemia	AASS	605116
811	Hypermethioninemia due to adenosine kinase deficiency	ADK	102750
812	Hypermethioninemia due to adenosine kinase deficiency	ADK	102751
813	Hypermethioninemia due to adenosine kinase deficiency	ADK	102752
814	Hypermethioninemia due to adenosine kinase deficiency	ADK	102753
815	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AHCY	180960
816	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AHCY	1050620
817	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AHCY	1920280
818	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AHCY	2789940
819	Hyperparathyroidism, neonatal / Hypocalcemia, autosomal dominant / Hypocalcemia, autosomal dominant, with Bartter syndrome / Hypocalciuric hypercalcemia, type I / {Epilepsy idiopathic generalized, susceptibility to, 8}	CASR	601199
820	Hyperparathyroidism, neonatal / Hypocalcemia, autosomal dominant / Hypocalcemia, autosomal dominant, with Bartter syndrome / Hypocalciuric hypercalcemia, type I / {Epilepsy idiopathic generalized, susceptibility to, 8}	CASR	267956,2825
821	Hyperparathyroidism, neonatal / Hypocalcemia, autosomal dominant / Hypocalcemia, autosomal dominant, with Bartter syndrome / Hypocalciuric hypercalcemia, type I / {Epilepsy idiopathic generalized, susceptibility to, 8}	CASR	39381,36359
822	Hyperparathyroidism, neonatal / Hypocalcemia, autosomal dominant / Hypocalcemia, autosomal dominant, with Bartter syndrome / Hypocalciuric hypercalcemia, type I / {Epilepsy idiopathic generalized, susceptibility to, 8}	CASR	-189193,5553
823	Hyperphenylalaninemia, mild, non-BH4-deficient	DNAJC12
824	Hyperphenylalaninemia, mild, non-BH4-deficient	DNAJC12	699443,2039
825	Hyperphenylalaninemia, mild, non-BH4-deficient	DNAJC12	852950,716
826	Hypomagnesemia 6, renal, Hypomagnesemia, seizures, and mental retardation	CNNM2	607803
827	Hypomagnesemia 6, renal, Hypomagnesemia, seizures, and mental retardation	CNNM3	387495,2693
828	Hypomagnesemia 6, renal, Hypomagnesemia, seizures, and mental retardation	CNNM4	277112,2245
829	Hypomagnesemia 6, renal, Hypomagnesemia, seizures, and mental retardation	CNNM5	166729,1797
830	Hypomagnesemia;Seizures;Intellectual disability	ATP1A1	182310
831	Hypomagnesemia;Seizures;Intellectual disability	ATP1A4	534981,4177
832	Hypomagnesemia;Seizures;Intellectual disability	ATP1A7	700160,4504
833	Hypomagnesemia;Seizures;Intellectual disability	ATP1A10	865339,4831
834	Hypomyelinating neuropathy, congenital, 3/Lethal congenital contracture syndrome 10	CNTNAP7	156144,5042
835	Hypomyelinating neuropathy, congenital, 3/Lethal congenital contracture syndrome 7	CNTNAP1
836	Hypomyelinating neuropathy, congenital, 3/Lethal congenital contracture syndrome 8	CNTNAP3	376910,5937
837	Hypomyelinating neuropathy, congenital, 3/Lethal congenital contracture syndrome 9	CNTNAP5	266527,549
838	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	DARS1
839	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	DARS3	623592,4332
840	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	DARS5	777099,9453
841	Hypophosphatasia, adult 146300 AD, AR;Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR	ALPL	171760
842	Hypophosphatasia, adult 146300 AD, AR;Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR	ALPL	408400,0368
843	Hypophosphatasia, adult 146300 AD, AR;Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR	ALPL	334468,4118
844	Hypophosphatasia, adult 146300 AD, AR;Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR	ALPL	260536,7868
845	Hypotonia, ataxia, and delayed development syndrome	EBF3
846	Hypotonia, ataxia, and delayed development syndrome	EBF4
847	Hypotonia, ataxia, and delayed development syndrome	EBF5
I
848	Immunodeficiency 47	ATP6AP1
849	Immunodeficiency 48	ATP6AP3	545305,1072
850	Immunodeficiency 49	ATP6AP5	710484,1399
851	Immunodeficiency 50	ATP6AP7	875663,1726
852	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	DNMT3B
853	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	DNMT3B	713890,9698
854	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	DNMT3B	867398,4818
855	Infantile cerebellar-retinal degeneration	ACO2	100850
856	Infantile cerebellar-retinal degeneration	ACO3	100851
857	Infantile cerebellar-retinal degeneration	ACO4	100852
858	Infantile cerebellar-retinal degeneration	ACO5	100853
859	Infantile-onset encephalopathy	CCDC186
860	Infantile-onset encephalopathy	CCDC186	199383,8069
861	Infantile-onset encephalopathy	CCDC186	-29191,11209
862	Infantile-onset encephalopathy	CCDC186	-257766,031
863	Intellectual developmental disorder	CAPZA2
864	Intellectual developmental disorder	CAPZA3
865	Intellectual developmental disorder	CAPZA4
866	Intellectual developmental disorder	CAPZA5
867	Intellectual developmental disorder	CCDC82
868	Intellectual developmental disorder	CCDC82	153668,8231
869	Intellectual developmental disorder	CCDC82	-74906,09588
870	Intellectual developmental disorder	CCDC82	-303481,0148
871	Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior	AP2M1	601024
872	Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior	AP2M2	712273,869
873	Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior	AP2M3	922875,6786
874	Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior	AP2M4	1133477,488
875	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / Intellectual developmental disorder, with or without nystagmus / FG syndrome 4	CASK	300172
876	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / Intellectual developmental disorder, with or without nystagmus / FG syndrome 5	CASK	279385,0285
877	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / Intellectual developmental disorder, with or without nystagmus / FG syndrome 6	CASK	50810,10954
878	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / Intellectual developmental disorder, with or without nystagmus / FG syndrome 7	CASK	-177764,8094
879	Intellectual developmental disorder with autism and macrocephaly	CHD8	610528
880	Intellectual developmental disorder with autism and macrocephaly	CHD8	613800
881	Intellectual developmental disorder with autism and macrocephaly	CHD8	617072
882	Intellectual developmental disorder with autism and macrocephaly	CHD8	620344
883	Intellectual developmental disorder with dysmorphic facies and ptosis	BRPF1
884	Intellectual developmental disorder with dysmorphic facies and ptosis	BRPF2	631335,8534
885	Intellectual developmental disorder with dysmorphic facies and ptosis	BRPF3	796514,8861
886	Intellectual developmental disorder with dysmorphic facies and ptosis	BRPF4	961693,9188
887	Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities	BCL11B
888	Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities	BCL11B	603806,0146
889	Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities	BCL11B	768985,0473
890	Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities	BCL11B	934164,08
891	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies/Myopathy, epilepsy, and progressive cerebral atrophy	ALG14	612866
892	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies/Myopathy, epilepsy, and progressive cerebral atrophy	ALG14	438842,4706
893	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies/Myopathy, epilepsy, and progressive cerebral atrophy	ALG14	364910,8456
894	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies/Myopathy, epilepsy, and progressive cerebral atrophy	ALG14	290979,2206
895	Intellectual developmental disorder with hypotonia and behavioral abnormalities	CDK8
896	Intellectual developmental disorder with hypotonia and behavioral abnormalities	CDK8	63653,23077
897	Intellectual developmental disorder with hypotonia and behavioral abnormalities	CDK8	-349100,6154
898	Intellectual developmental disorder with hypotonia and behavioral abnormalities	CDK8	-761854,4615
899	Intellectual developmental disorder with impaired language and dysmorphic facies	DDX6
900	Intellectual developmental disorder with impaired language and dysmorphic facies	DDX100	650681,9942
901	Intellectual developmental disorder with impaired language and dysmorphic facies	DDX206	804189,5063
902	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	CNOT2
903	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	CNOT2	384471,0763
904	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	CNOT2	274088,0315
905	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	CNOT2	163704,9867
906	Intellectual developmental disorder with poor growth and with or without seizures or ataxia 618808 AR 3	ABCA2	3
907	Intellectual developmental disorder with poor growth and with or without seizures or ataxia 618808 AR 3	ABCA3	942630,8333
908	Intellectual developmental disorder with poor growth and with or without seizures or ataxia 618808 AR 3	ABCA4	1639064,333
909	Intellectual developmental disorder with poor growth and with or without seizures or ataxia 618808 AR 3	ABCA5	2335497,833
910	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	CNOT3	604910
911	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	CNOT3	382958,9797
912	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	CNOT3	272575,935
913	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	CNOT3	162192,8902
914	Intellectual developmental disorder, X-linked 109	AFF2	300806
915	Intellectual developmental disorder, X-linked 110	AFF5	370986,0952
916	Intellectual developmental disorder, X-linked 111	AFF8	289540,0381
917	Intellectual developmental disorder, X-linked 112	AFF11	208093,981
918	Intellectual developmental disorder, X-linked 113	CSTF2
919	Intellectual developmental disorder, X-linked 114	CSTF3	314914,6371
920	Intellectual developmental disorder, X-linked 115	CSTF4	204531,5923
921	Intellectual developmental disorder, X-linked 63	ACSL4	300157
922	Intellectual developmental disorder, X-linked 64	ACSL5	571489,7458
923	Intellectual developmental disorder, X-linked 65	ACSL6	851011,1093
924	Intellectual developmental disorder, X-linked 66	ACSL7	1130532,473
925	Intellectual developmental disorder, X-linked 90	DLG3	300189
926	Intellectual developmental disorder, X-linked 91	DLG5	690413,3503
927	Intellectual developmental disorder, X-linked 92	DLG7	843920,8623
928	Intellectual developmental disorder, X-linked 93	BRWD3	300553
929	Intellectual developmental disorder, X-linked 94	BRWD4	634777,0833
930	Intellectual developmental disorder, X-linked 95	BRWD5	799956,116
931	Intellectual developmental disorder, X-linked 96	BRWD6	965135,1487
932	Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type	DDX3X	300160
933	Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type	DDX3X	647070,0527
934	Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type	DDX3X	800577,5648
935	Intellectual developmental disorder, X-linked, syndromic 32	CLIC2	300138
936	Intellectual developmental disorder, X-linked, syndromic 33	CLIC3	404128,3308
937	Intellectual developmental disorder, X-linked, syndromic 34	CLIC4	293745,286
938	Intellectual developmental disorder, X-linked, syndromic 35	CLIC5	183362,2413
939	Intellectual developmental disorder, X-linked, syndromic, Cabezas type	CUL4B	300304
940	Intellectual developmental disorder, X-linked, syndromic, Cabezas type	CUL4B	598308,843
941	Intellectual developmental disorder, X-linked, syndromic, Cabezas type	CUL4B	751816,3551
942	Intellectual developmental disorder, X-linked, syndromic, Houge type	CNKSR2	300724
943	Intellectual developmental disorder, X-linked, syndromic, Houge type	CNKSR4	389007,3658
944	Intellectual developmental disorder, X-linked, syndromic, Houge type	CNKSR6	278624,321
945	Intellectual developmental disorder, X-linked, syndromic, Houge type	CNKSR8	168241,2762
946	Intellectual developmental disorder, autosomal dominant 10	CACNG2	602911
947	Intellectual developmental disorder, autosomal dominant 11	CACNG3	672630,6116
948	Intellectual developmental disorder, autosomal dominant 12	CACNG4	837809,6443
949	Intellectual developmental disorder, autosomal dominant 13	CACNG5	1002988,677
950	Intellectual developmental disorder, autosomal dominant 13 / Charcot-Marie-Tooth disease, axonal, type 2O / Spinal muscular atrophy, lower extremity-predominant 1, AD	DYNC1H1	600112
951	Intellectual developmental disorder, autosomal dominant 13 / Charcot-Marie-Tooth disease, axonal, type 2O / Spinal muscular atrophy, lower extremity-predominant 1, AD	DYNC1H2	613170,5
952	Intellectual developmental disorder, autosomal dominant 13 / Charcot-Marie-Tooth disease, axonal, type 2O / Spinal muscular atrophy, lower extremity-predominant 1, AD	DYNC1H3	627882,2143
953	Intellectual developmental disorder, autosomal dominant 21	CTCF
954	Intellectual developmental disorder, autosomal dominant 22	CTCF	310378,3476
955	Intellectual developmental disorder, autosomal dominant 23	CTCF	199995,3028
956	Intellectual developmental disorder, autosomal dominant 26	AUTS2	607270
957	Intellectual developmental disorder, autosomal dominant 27	AUTS3	571114,3311
958	Intellectual developmental disorder, autosomal dominant 28	AUTS4	736293,3638
959	Intellectual developmental disorder, autosomal dominant 29	AUTS5	901472,3965
960	Intellectual developmental disorder, autosomal dominant 3	CDH15	114019
961	Intellectual developmental disorder, autosomal dominant 33	DPP6
962	Intellectual developmental disorder, autosomal dominant 34	CERT1	604677
963	Intellectual developmental disorder, autosomal dominant 34	DPP7	740980,5307
964	Intellectual developmental disorder, autosomal dominant 35	CERT2	603815,3008
965	Intellectual developmental disorder, autosomal dominant 35	DPP8	894488,0428
966	Intellectual developmental disorder, autosomal dominant 36	CERT3	598572,2617
967	Intellectual developmental disorder, autosomal dominant 37	CERT4	593329,2227
968	Intellectual developmental disorder, autosomal dominant 4	CDH15	62238,85549
969	Intellectual developmental disorder, autosomal dominant 40	CHAMP1	616327
970	Intellectual developmental disorder, autosomal dominant 41	CHAMP2	603198,4727
971	Intellectual developmental disorder, autosomal dominant 42	CHAMP3	597955,4336
972	Intellectual developmental disorder, autosomal dominant 43	CHAMP4	592712,3945
973	Intellectual developmental disorder, autosomal dominant 45	CIC	612082
974	Intellectual developmental disorder, autosomal dominant 46	CIC	1041938,132
975	Intellectual developmental disorder, autosomal dominant 47	CIC	1712745,491
976	Intellectual developmental disorder, autosomal dominant 48	CIC	2383552,849
977	Intellectual developmental disorder, autosomal dominant 5	CDH15	-166336,0635
978	Intellectual developmental disorder, autosomal dominant 53 / ?Intellectual developmental disorder, autosomal recessive 63	CAMK2A	114078
979	Intellectual developmental disorder, autosomal dominant 53 / ?Intellectual developmental disorder, autosomal recessive 64	CAMK2A	676071,8414
980	Intellectual developmental disorder, autosomal dominant 53 / ?Intellectual developmental disorder, autosomal recessive 65	CAMK2A	841250,8741
981	Intellectual developmental disorder, autosomal dominant 53 / ?Intellectual developmental disorder, autosomal recessive 66	CAMK2A	1006429,907
982	Intellectual developmental disorder, autosomal dominant 54	CAMK2B	607707
983	Intellectual developmental disorder, autosomal dominant 56	CLTC	118955
984	Intellectual developmental disorder, autosomal dominant 57	CLTC	392031,5588
985	Intellectual developmental disorder, autosomal dominant 58	CLTC	281648,514
986	Intellectual developmental disorder, autosomal dominant 59	CAMK2G	602123
987	Intellectual developmental disorder, autosomal dominant 59	CLTC	171265,4693
988	Intellectual developmental disorder, autosomal dominant 6	CDH15	-394910,9824
989	Intellectual developmental disorder, autosomal dominant 64	CAMK2B	677792,4564
990	Intellectual developmental disorder, autosomal dominant 66	ATP2B1
991	Intellectual developmental disorder, autosomal dominant 67	ATP2B2	540143,2624
992	Intellectual developmental disorder, autosomal dominant 68	ATP2B3	705322,2951
993	Intellectual developmental disorder, autosomal dominant 69	ATP2B4	870501,3278
994	Intellectual developmental disorder, autosomal dominant 69	CAMK2G	679513,0713
995	Intellectual developmental disorder, autosomal dominant 7	DYRK1A	600855
996	Intellectual developmental disorder, autosomal dominant 74	CAMK2B	842971,4891
997	Intellectual developmental disorder, autosomal dominant 79	CAMK2G	844692,104
998	Intellectual developmental disorder, autosomal dominant 8	DYRK1A	620526,3571
999	Intellectual developmental disorder, autosomal dominant 84	CAMK2B	1008150,522
1000	Intellectual developmental disorder, autosomal dominant 89	CAMK2G	1009871,137
1001	Intellectual developmental disorder, autosomal dominant 9	DYRK1A	635238,0714
1002	Intellectual developmental disorder, autosomal dominant, FRA12A type	DIP2B	611379
1003	Intellectual developmental disorder, autosomal dominant, FRA12A type	DIP2B	679577,5259
1004	Intellectual developmental disorder, autosomal dominant, FRA12A type	DIP2B	833085,038
1005	Intellectual developmental disorder, autosomal recessive 2	CRBN	609262
1006	Intellectual developmental disorder, autosomal recessive 3	CRBN	328523,5056
1007	Intellectual developmental disorder, autosomal recessive 3	CC2D1A	610055
1008	Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly	CRADD	603454
1009	Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly	CRADD	331547,6986
1010	Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly	CRADD	221164,6539
1011	Intellectual developmental disorder, autosomal recessive 4	CC2D1A	233670,0447
1012	Intellectual developmental disorder, autosomal recessive 4	CRBN	218140,4609
1013	Intellectual developmental disorder, autosomal recessive 5	CC2D1A	5095,125753
1014	Intellectual developmental disorder, autosomal recessive 6	CC2D1A	-223479,7932
1015	Intellectual developmental disorder, autosomal recessive 66	C12orf4
1016	Intellectual developmental disorder, autosomal recessive 67	C12orf110	645100,7728
1017	Intellectual developmental disorder, autosomal recessive 68	C12orf216	810279,8055
1018	Intellectual developmental disorder, autosomal recessive 69	C12orf322	975458,8382
1019	Intellectual developmental disorder, autosomal recessive 71	ALKBH8	613306
1020	Intellectual developmental disorder, autosomal recessive 72	ALKBH9	412748,9559
1021	Intellectual developmental disorder, autosomal recessive 73	ALKBH10	338817,3309
1022	Intellectual developmental disorder, autosomal recessive 74	ALKBH11	264885,7059
1023	Intellectual developmental disorder, autosomal recessive 77/Joubert syndrome 25	CEP104
1024	Intellectual developmental disorder, autosomal recessive 77/Joubert syndrome 26	CEP104	607207,8555
1025	Intellectual developmental disorder, autosomal recessive 77/Joubert syndrome 27	CEP104	601964,8164
1026	Intellectual developmental disorder, autosomal recessive 77/Joubert syndrome 28	CEP104	596721,7773
1027	Intellectual developmental disorder, autosomal recessive 81	ASCC3
1028	Intellectual developmental disorder, autosomal recessive 82	ASCC4	344082,6315
1029	Intellectual developmental disorder, autosomal recessive 83	ASCC5	169593,3311
1030	Intellectual developmental disorder, autosomal recessive 84	ASCC6	-4895,969292
1031	Intellectual disability	ACTL6A
1032	Intellectual disability	DPYSL2
1033	Intellectual disability	ACTL6A	641370,0867
1034	Intellectual disability	DPYSL8	746398,4429
1035	Intellectual disability	ACTL6A	920891,4502
1036	Intellectual disability	DPYSL14	899905,955
1037	Intellectual disability	ACTL6A	1200412,814
1038	Intellectual disability	CTBP1
1039	Intellectual disability	CTBP2	313402,5406
1040	Intellectual disability	CTBP3	203019,4958
1041	Intellectual disability and myopathy syndrome	ABCC9	601439
1042	Intellectual disability and myopathy syndrome	ABCC10	1174775,333
1043	Intellectual disability and myopathy syndrome	ABCC11	1871208,833
1044	Intellectual disability and myopathy syndrome	ABCC12	2567642,333
1045	Intellectual disability syndrome	CLIP1	179838
1046	Intellectual disability syndrome	CLIP2	402616,2343
1047	Intellectual disability syndrome	CLIP3	292233,1895
1048	Intellectual disability syndrome	CLIP4	181850,1448
1049	Intellectual disability, autism spectrum disorder & epilepsy	CDK16
1050	Intellectual disability, autism spectrum disorder & epilepsy	CDK28
1051	Intellectual disability, autism spectrum disorder & epilepsy	CDK40
1052	Intellectual disability, autism spectrum disorder & epilepsy	CDK52
1053	Intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.	CTR9
1054	Intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.	CTR10	304329,9616
1055	Intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.	CTR11	193946,9168
1056	Intellectual disability;Seizures;KINSSHIP syndrome	AFF3	601464
1057	Intellectual disability;Seizures;KINSSHIP syndrome	AFF6	357411,7524
1058	Intellectual disability;Seizures;KINSSHIP syndrome	AFF9	275965,6952
1059	Intellectual disability;Seizures;KINSSHIP syndrome	AFF12	194519,6381
J
1060	Joubert syndrome 10	ARL13B	-1826754
1061	Joubert syndrome 11	ARL13B	-3044592
1062	Joubert syndrome 15	CEP41
1063	Joubert syndrome 17/Orofaciodigital syndrome VI	CPLANE1
1064	Joubert syndrome 17/Orofaciodigital syndrome VI	CPLANE2	337596,0846
1065	Joubert syndrome 17/Orofaciodigital syndrome VI	CPLANE3	227213,0399
1066	Joubert syndrome 17/Orofaciodigital syndrome VI	CPLANE4	116829,9951
1067	Joubert syndrome 21	CSPP1
1068	Joubert syndrome 22	CSPP2	317938,8301
1069	Joubert syndrome 23	CSPP3	207555,7853
1070	Joubert syndrome 25	CEP290	605974,1992
1071	Joubert syndrome 27	B9D1
1072	Joubert syndrome 28	B9D3	579717,4057
1073	Joubert syndrome 29	B9D5	744896,4384
1074	Joubert syndrome 3	AHI1	608894
1075	Joubert syndrome 30	ARMC9	617612
1076	Joubert syndrome 30	B9D7	910075,4711
1077	Joubert syndrome 31	CEP120
1078	Joubert syndrome 31	ARMC10	617613
1079	Joubert syndrome 32	CEP120	606899,4414
1080	Joubert syndrome 33	ARMC11	617614
1081	Joubert syndrome 33	CEP120	601656,4023
1082	Joubert syndrome 34	ARMC12	617615
1083	Joubert syndrome 34	CEP120	596413,3633
1084	Joubert syndrome 34	B9D2
1085	Joubert syndrome 35	B9D4	581438,0206
1086	Joubert syndrome 35	CEP41	605665,7852
1087	Joubert syndrome 36	B9D6	746617,0533
1088	Joubert syndrome 37	B9D8	911796,086
1089	Joubert syndrome 4	AHI2	608895
1090	Joubert syndrome 45	CEP290	600731,1602
1091	Joubert syndrome 5	CEP290
1092	Joubert syndrome 5	AHI3	608896
1093	Joubert syndrome 55	CEP41	600422,7461
1094	Joubert syndrome 6	AHI4	608897
1095	Joubert syndrome 65	CEP290	595488,1211
1096	Joubert syndrome 75	CEP41	595179,707
1097	Joubert syndrome 8	ARL13B	608922
1098	Joubert syndrome 9	ARL13B	-608916
1099	Joubert syndrome 9 / Meckel syndrome 6	CC2D2A	612013
1100	Joubert syndrome 9 / Meckel syndrome 7	CC2D2A	222241,2987
1101	Joubert syndrome 9 / Meckel syndrome 8	CC2D2A	-6333,620195
1102	Joubert syndrome 9 / Meckel syndrome 9	CC2D2A	-234908,5391
1103	Juvenile myelomonocytic leukemia / Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	CBL	165360
1104	Juvenile myelomonocytic leukemia / Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	CBL	256527,5366
1105	Juvenile myelomonocytic leukemia / Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	CBL	27952,61765
1106	Juvenile myelomonocytic leukemia / Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	CBL	-200622,3013
K
1107	KBG syndrome	ANKRD11	611192
1108	KBG syndrome	ANKRD23	1353482,4
1109	KBG syndrome	ANKRD35	2042980,9
1110	KBG syndrome	ANKRD47	2732479,4
1111	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	AP1B1	242150
1112	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	AP1B2	964916
1113	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	AP1B3	1687682
1114	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	AP1B4	2410448
1115	Knobloch syndrome, type 1	COL18A1	120328
1116	Knobloch syndrome, type 2	COL18A2	361789,6287
1117	Knobloch syndrome, type 3	COL18A3	251406,5839
1118	Knobloch syndrome, type 4	COL18A4	141023,5392
1119	Kufor-Rakeb syndrome/Spastic paraplegia 78, autosomal recessive	ATP13A2
1120	Kufor-Rakeb syndrome/Spastic paraplegia 78, autosomal recessive	ATP13A3	533260,8027
1121	Kufor-Rakeb syndrome/Spastic paraplegia 78, autosomal recessive	ATP13A4	698439,8354
1122	Kufor-Rakeb syndrome/Spastic paraplegia 78, autosomal recessive	ATP13A5	863618,8681
1123	Kury-Isidor syndrome	BAP1
1124	Kury-Isidor syndrome	BAP2	583158,6355
1125	Kury-Isidor syndrome	BAP3	748337,6682
1126	Kury-Isidor syndrome	BAP4	913516,7009
L
1127	Lessel-Kreienkamp syndrome	AGO2	606229
1128	Lessel-Kreienkamp syndrome	AGO4	607431
1129	Lessel-Kreienkamp syndrome	AGO6	608633
1130	Lessel-Kreienkamp syndrome	AGO8	609835
1131	Leukodystrophy	BLOC1S1
1132	Leukodystrophy	BLOC1S2	615850,3191
1133	Leukodystrophy	BLOC1S3	781029,3518
1134	Leukodystrophy	BLOC1S4	946208,3845
1135	Leukodystrophy, hypomyelinating 3 260600	AIMP1	603605
1136	Leukodystrophy, hypomyelinating 3 260601	AIMP3	377460,1
1137	Leukodystrophy, hypomyelinating 3 260602	AIMP5	152073,6
1138	Leukodystrophy, hypomyelinating 3 260603	AIMP7	-73312,9
1139	Leukodystrophy, hypomyelinating, 17	AIMP2	600859
1140	Leukodystrophy, hypomyelinating, 18	DEGS1	615843
1141	Leukodystrophy, hypomyelinating, 18	AIMP4	332382,8
1142	Leukodystrophy, hypomyelinating, 19	DEGS2	654293,9356
1143	Leukodystrophy, hypomyelinating, 19	AIMP6	106996,3
1144	Leukodystrophy, hypomyelinating, 20	DEGS3	807801,4477
1145	Leukodystrophy, hypomyelinating, 20	AIMP8	-118390,2
1146	Leukodystrophy, hypomyelinating, 24	ATP11A
1147	Leukodystrophy, hypomyelinating, 25	ATP11A	531540,1878
1148	Leukodystrophy, hypomyelinating, 26	ATP11A	696719,2205
1149	Leukodystrophy, hypomyelinating, 27	ATP11A	861898,2532
1150	Leukodystrophy, progressive, early childhood-onset	ACER3	3
1151	Leukodystrophy, progressive, early childhood-onset	ACER4	4
1152	Leukodystrophy, progressive, early childhood-onset	ACER5	5
1153	Leukodystrophy, progressive, early childhood-onset	ACER6	6
1154	Leukoencephalopathy with ataxia / Hyperaldosteronism, familial, type II / {Epilepsy, idiopathic generalized, susceptibility to, 11}	CLCN2	600570
1155	Leukoencephalopathy with ataxia / Hyperaldosteronism, familial, type II / {Epilepsy, idiopathic generalized, susceptibility to, 11}	CLCN2	1329427
1156	Leukoencephalopathy with ataxia / Hyperaldosteronism, familial, type II / {Epilepsy, idiopathic generalized, susceptibility to, 11}	CLCN2	2000234,358
1157	Leukoencephalopathy with ataxia / Hyperaldosteronism, familial, type II / {Epilepsy, idiopathic generalized, susceptibility to, 11}	CLCN2	2671041,717
1158	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	DARS2
1159	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	DARS4	625398,404
1160	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	DARS6	778905,916
1161	Linear skin defects with multiple congenital anomalies 2	COX7B
1162	Linear skin defects with multiple congenital anomalies 3	COX7B	342132,3742
1163	Linear skin defects with multiple congenital anomalies 4	COX7B	231749,3294
1164	Linear skin defects with multiple congenital anomalies 5	COX7B	121366,2846
1165	Lissencephaly 10	CEP85L	618865
1166	Lissencephaly 11	CEP85L	604740,543
1167	Lissencephaly 12	CEP85L	599497,5039
1168	Lissencephaly 13	CEP85L	594254,4648
1169	Lissencephaly, X-linked / Subcortical laminal heterotopia, X-linked	DCX	300121
1170	Lissencephaly, X-linked / Subcortical laminal heterotopia, X-linked	DCX	634428,2576
1171	Lissencephaly, X-linked / Subcortical laminal heterotopia, X-linked	DCX	787935,7697
M
1172	MEDNIK syndrome	AP1S1	603531
1173	MEDNIK syndrome	AP1S3	603532
1174	MEDNIK syndrome	AP1S5	603533
1175	MEDNIK syndrome	AP1S7	603534
1176	MEND syndrome	EBP
1177	MEND syndrome	EBP
1178	MEND syndrome	EBP
1179	Maple syrup urine disease, type II	DBT	248610
1180	Maple syrup urine disease, type II	DBT	627204,3747
1181	Maple syrup urine disease, type II	DBT	780711,8868
1182	Maple syrup urine disease, type Ia	BCKDHA	608348
1183	Maple syrup urine disease, type Ia	BCKDHA	596923,5549
1184	Maple syrup urine disease, type Ia	BCKDHA	762102,5876
1185	Maple syrup urine disease, type Ia	BCKDHA	927281,6203
1186	Maple syrup urine disease, type Ib	BCKDHB	248611
1187	Maple syrup urine disease, type Ib	BCKDHB	598644,1698
1188	Maple syrup urine disease, type Ib	BCKDHB	763823,2026
1189	Maple syrup urine disease, type Ib	BCKDHB	929002,2353
1190	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937	AKT3	611223
1191	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615938	AKT4	287305,5
1192	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615939	AKT5	61919
1193	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615940	AKT6	-163467,5
1194	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	CCND2	123833
1195	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 4	CCND3	119382,5852
1196	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 5	CCND4	-109192,3337
1197	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 6	CCND5	-337767,2527
1198	Megaloblastic anemia due to dihydrofolate reductase deficiency	DHFR
1199	Megaloblastic anemia due to dihydrofolate reductase deficiency	DHFR	665129,76
1200	Megaloblastic anemia due to dihydrofolate reductase deficiency	DHFR	818637,2721
1201	Menke-Hennekam syndrome 1	CREBBP	600140
1202	Menke-Hennekam syndrome 2	CREBBP	327011,4091
1203	Menke-Hennekam syndrome 3	CREBBP	216628,3644
1204	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy, distal, X-linked 3	ATP7A	300011
1205	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy, distal, X-linked 4	ATP7A	557349,4117
1206	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy, distal, X-linked 5	ATP7A	722528,4444
1207	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy, distal, X-linked 6	ATP7A	887707,4771
1208	Mental retardation, X-linked 88	AGTR2	300034
1209	Mental retardation, X-linked 89	AGTR3	300035
1210	Mental retardation, X-linked 90	AGTR4	300036
1211	Mental retardation, X-linked 91	AGTR5	300037
1212	Mental retardation, autosomal dominant 52	ASH1L	607999
1213	Mental retardation, autosomal dominant 53	ASH1L	329541,8565
1214	Mental retardation, autosomal dominant 54	ASH1L	155052,5561
1215	Mental retardation, autosomal dominant 55	ASH1L	-19436,74433
1216	Mental retardation, autosomal recessive, 37	ANK3	600465
1217	Mental retardation, autosomal recessive, 38	ANK4	1215582,7
1218	Mental retardation, autosomal recessive, 39	ANK5	1905081,2
1219	Mental retardation, autosomal recessive, 40	ANK6	2594579,7
1220	Metachromatic leukodystrophy	ARSA	607574
1221	Metachromatic leukodystrophy	ARSA	607575
1222	Metachromatic leukodystrophy	ARSA	607576
1223	Metachromatic leukodystrophy	ARSA	607577
1224	Methemoglobinemia, type I/Methemoglobinemia, type II	CYB5R3
1225	Methemoglobinemia, type I/Methemoglobinemia, type II	CYB5R4	607338,6967
1226	Methemoglobinemia, type I/Methemoglobinemia, type II	CYB5R5	760846,2087
1227	Methylmalonic aciduria and homocystinuria, cblJ type	ABCD4	603214
1228	Methylmalonic aciduria and homocystinuria, cblJ type	ABCD10	603214
1229	Methylmalonic aciduria and homocystinuria, cblJ type	ABCD16	603214
1230	Methylmalonic aciduria and homocystinuria, cblJ type	ABCD22	603214
1231	Microcephaly 12, primary, autosomal recessive	CDK6	603368
1232	Microcephaly 12, primary, autosomal recessive	CDK6	146204
1233	Microcephaly 12, primary, autosomal recessive	CDK6	-266549,8462
1234	Microcephaly 12, primary, autosomal recessive	CDK6	-679303,6923
1235	Microcephaly 17, primary, autosomal recessive	CIT
1236	Microcephaly 17, primary, autosomal recessive	CIT	1137767,755
1237	Microcephaly 17, primary, autosomal recessive	CIT	1808575,113
1238	Microcephaly 17, primary, autosomal recessive	CIT	2479382,472
1239	Microcephaly 3, primary, autosomal recessive	CDK5RAP2	608201
1240	Microcephaly 3, primary, autosomal recessive	CDK5RAP3	228754,7692
1241	Microcephaly 3, primary, autosomal recessive	CDK5RAP4	-183999,0769
1242	Microcephaly 3, primary, autosomal recessive	CDK5RAP5	-596752,9231
1243	Microcephaly 30, primary, autosomal recessive	BUB1
1244	Microcephaly 30, primary, autosomal recessive	BUB2	641659,5429
1245	Microcephaly 30, primary, autosomal recessive	BUB3	806838,5757
1246	Microcephaly 30, primary, autosomal recessive	BUB4	972017,6084
1247	Microcephaly 5, primary, autosomal recessive	ASPM	605481
1248	Microcephaly 5, primary, autosomal recessive	ASPM	271378,7563
1249	Microcephaly 5, primary, autosomal recessive	ASPM	96889,45594
1250	Microcephaly 5, primary, autosomal recessive	ASPM	-77599,84446
1251	Microcephaly 8, primary, autosomal recessive	CEP135
1252	Microcephaly 8, primary, autosomal recessive	CEP135	606591,0273
1253	Microcephaly 8, primary, autosomal recessive	CEP135	601347,9883
1254	Microcephaly 8, primary, autosomal recessive	CEP135	596104,9492
1255	Microcephaly 9, primary, autosomal recessive / Seckel syndrome 5	CEP152	613529
1256	Microcephaly 9, primary, autosomal recessive / Seckel syndrome 6	CEP152	606282,6133
1257	Microcephaly 9, primary, autosomal recessive / Seckel syndrome 7	CEP152	601039,5742
1258	Microcephaly 9, primary, autosomal recessive / Seckel syndrome 8	CEP152	595796,5352
1259	Microcephaly, developmental delay, and brittle hair syndrome	CARS1
1260	Microcephaly, developmental delay, and brittle hair syndrome	CARS3
1261	Microcephaly, developmental delay, and brittle hair syndrome	CARS5
1262	Microcephaly, developmental delay, and brittle hair syndrome	CARS7
1263	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	CTU2
1264	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	CTU3
1265	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	CTU4
1266	Microcephaly-micromelia syndrome/Microcephaly, short stature, and limb abnormalities	DONSON
1267	Microcephaly-micromelia syndrome/Microcephaly, short stature, and limb abnormalities	DONSON	724726,7941
1268	Microcephaly-micromelia syndrome/Microcephaly, short stature, and limb abnormalities	DONSON	878234,3062
1269	Microphthalmia, syndromic 2	BCOR	300485
1270	Microphthalmia, syndromic 3	BCOR	605526,6295
1271	Microphthalmia, syndromic 4	BCOR	770705,6622
1272	Microphthalmia, syndromic 5	BCOR	935884,695
1273	Microphthalmia, syndromic 6	BMP4
1274	Microphthalmia, syndromic 7	BMP5	619291,5489
1275	Microphthalmia, syndromic 8	BMP6	784470,5816
1276	Microphthalmia, syndromic 9	BMP7	949649,6143
1277	Mitochondrial complex I deficiency, nuclear type 20	ACAD9	611103
1278	Mitochondrial complex I deficiency, nuclear type 21	ACAD10	611103
1279	Mitochondrial complex I deficiency, nuclear type 22	ACAD11	611103
1280	Mitochondrial complex I deficiency, nuclear type 23	ACAD12	611103
1281	Mitochondrial complex III deficiency, nuclear type 6	CYC1
1282	Mitochondrial complex III deficiency, nuclear type 7	CYC2	609144,6674
1283	Mitochondrial complex III deficiency, nuclear type 8	CYC3	762652,1795
1284	Mitochondrial complex IV deficiency, nuclear type 12	COX25	343644,4707
1285	Mitochondrial complex IV deficiency, nuclear type 15	COX30	234773,5224
1286	Mitochondrial complex IV deficiency, nuclear type 18	COX35	233261,4259
1287	Mitochondrial complex IV deficiency, nuclear type 21	COX40	124390,4776
1288	Mitochondrial complex IV deficiency, nuclear type 24	COX45	122878,3811
1289	Mitochondrial complex IV deficiency, nuclear type 3	COX10	602125
1290	Mitochondrial complex IV deficiency, nuclear type 6	COX15	603646
1291	Mitochondrial complex IV deficiency, nuclear type 9	COX20	345156,5672
1292	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 10	ATP5PO	873942,5577
1293	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	ATP5PO
1294	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 8	ATP5PO	543584,4923
1295	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 9	ATP5PO	708763,525
1296	Mosaic variegated aneuploidy syndrome 1	BUB1B
1297	Mosaic variegated aneuploidy syndrome 2	BUB1B	643380,1579
1298	Mosaic variegated aneuploidy syndrome 3	BUB1B	808559,1906
1299	Mosaic variegated aneuploidy syndrome 4	BUB1B	973738,2233
1300	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	CEP55
1301	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	CEP55	605357,3711
1302	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	CEP55	600114,332
1303	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	CEP55	594871,293
1304	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	BOLA3	613183
1305	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	BOLA4	621012,1639
1306	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	BOLA5	786191,1966
1307	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	BOLA6	951370,2293
1308	Multiple-malformation syndrome with retinal dystrophy	CDK9
1309	Multiple-malformation syndrome with retinal dystrophy	CDK9	-18897,53846
1310	Multiple-malformation syndrome with retinal dystrophy	CDK9	-431651,3846
1311	Multiple-malformation syndrome with retinal dystrophy	CDK9	-844405,2308
1312	Muscular dystrophy, congenital, megaconial type	CHKB
1313	Muscular dystrophy, congenital, megaconial type	CHKB
1314	Muscular dystrophy, congenital, megaconial type	CHKB
1315	Muscular dystrophy, congenital, megaconial type	CHKB
1316	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11	B3GALNT2
1317	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	B3GALNT3	572834,946
1318	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	B3GALNT4	738013,9787
1319	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	B3GALNT5	903193,0114
1320	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	CRPPA	614631
1321	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8	CRPPA	323987,2161
1322	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9	CRPPA	213604,1713
1323	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 10	DAG2	618174,521
1324	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 11	DAG3	771682,0331
1325	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9/Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	DAG1
1326	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	DPM3
1327	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 16	DPM6	739174,56
1328	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 17	DPM9	892682,0721
N
1329	Neuro-ocular DAGLA-related syndrome	DAGLA
1330	Neuro-ocular DAGLA-related syndrome	DAGLA	619980,4918
1331	Neuro-ocular DAGLA-related syndrome	DAGLA	773488,0039
1332	Neurodegeneration with brain iron accumulation 6/Pontocerebellar hypoplasia, type 12	COASY
1333	Neurodegeneration with brain iron accumulation 6/Pontocerebellar hypoplasia, type 13	COASY	372374,3042
1334	Neurodegeneration with brain iron accumulation 6/Pontocerebellar hypoplasia, type 14	COASY	261991,2595
1335	Neurodegeneration with brain iron accumulation 6/Pontocerebellar hypoplasia, type 15	COASY	151608,2147
1336	Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	CLCN6	602726
1337	Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	CLCN6	407152,5238
1338	Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	CLCN6	296769,479
1339	Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	CLCN6	186386,4343
1340	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	ADPRS	610624
1341	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	ADPRS	411709,1238
1342	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	ADPRS	330263,0667
1343	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	ADPRS	248817,0095
1344	Neurodegeneration, childhood-onset, with cerebellar atrophy	AGTPBP1	606830
1345	Neurodegeneration, childhood-onset, with cerebellar atrophy	AGTPBP2	608032
1346	Neurodegeneration, childhood-onset, with cerebellar atrophy	AGTPBP3	609234
1347	Neurodegeneration, childhood-onset, with cerebellar atrophy	AGTPBP4	610436
1348	Neurodegeneration, childhood-onset, with progressive microcephaly	DTYMK	188345
1349	Neurodegeneration, childhood-onset, with progressive microcephaly	DTYMK	188346
1350	Neurodegeneration, childhood-onset, with progressive microcephaly	DTYMK	188347
1351	Neurodevelopmental disorder	DHX9
1352	Neurodevelopmental disorder	DHX9	675965,5844
1353	Neurodevelopmental disorder	DHX9	829473,0965
1354	Neurodevelopmental disorder	DSCAM	602523
1355	Neurodevelopmental disorder	DSCAM	750010,3844
1356	Neurodevelopmental disorder	DSCAM	903517,8964
1357	Neurodevelopmental disorder	ATG4D
1358	Neurodevelopmental disorder	ATG4D	522937,1132
1359	Neurodevelopmental disorder	ATG4D	688116,1459
1360	Neurodevelopmental disorder	ATG4D	853295,1786
1361	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	ADAT3	615302
1362	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	ADAT4	781130,7684
1363	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	ADAT5	1060652,132
1364	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	ADAT6	1340173,495
1365	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	DHX37
1366	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	DHX37	674159,6137
1367	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	DHX37	827667,1258
1368	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures / Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT1	614506
1369	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures / Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT2	626174,0086
1370	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures / Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT3	791353,0413
1371	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures / Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT4	956532,074
1372	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF	601819
1373	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF	622732,7788
1374	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF	787911,8115
1375	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF	953090,8442
1376	Neurodevelopmental disorder with hyperkinetic movements	CAMK4
1377	Neurodevelopmental disorder with hyperkinetic movements	CAMK5	681233,6862
1378	Neurodevelopmental disorder with hyperkinetic movements	CAMK6	846412,7189
1379	Neurodevelopmental disorder with hyperkinetic movements	CAMK7	1011591,752
1380	Neurodevelopmental disorder with hypotonia and brain abnormalities/Neurodevelopmental disorder with seizures and brain abnormalities	CLCN3	600580
1381	Neurodevelopmental disorder with hypotonia and brain abnormalities/Neurodevelopmental disorder with seizures and brain abnormalities	CLCN3	600581
1382	Neurodevelopmental disorder with hypotonia and brain abnormalities/Neurodevelopmental disorder with seizures and brain abnormalities	CLCN3	600582
1383	Neurodevelopmental disorder with hypotonia and brain abnormalities/Neurodevelopmental disorder with seizures and brain abnormalities	CLCN3	600583
1384	Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures / Vulto-van Silfout-de Vries syndrome	DEAF1	602635
1385	Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures / Vulto-van Silfout-de Vries syndrome	DEAF2	652487,9649
1386	Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures / Vulto-van Silfout-de Vries syndrome	DEAF3	805995,477
1387	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	ADARB1	601218
1388	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	ADARB2	757837,3215
1389	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	ADARB3	1037358,685
1390	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	ADARB4	1316880,049
1391	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	DOCK3	603123
1392	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	DOCK3	715696,9405
1393	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	DOCK3	869204,4526
1394	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	AGO1	606228
1395	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	AGO3	597064,6667
1396	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	AGO5	586564,6667
1397	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	AGO7	576064,6667
1398	Neurodevelopmental disorder with language impairment, ADHD, and ASD	CAPRIN1
1399	Neurodevelopmental disorder with language impairment, ADHD, and ASD	CAPRIN2
1400	Neurodevelopmental disorder with language impairment, ADHD, and ASD	CAPRIN3
1401	Neurodevelopmental disorder with language impairment, ADHD, and ASD	CAPRIN4
1402	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	DOHH
1403	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	DOHH	721114,8527
1404	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	DOHH	874622,3648
1405	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	CPSF3
1406	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	CPSF4	333059,7951
1407	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	CPSF5	222676,7504
1408	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	CPSF6	112293,7056
1409	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	CHKA	118491
1410	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	CHKA	118492
1411	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	CHKA	118493
1412	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	CHKA	118494
1413	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	DLL1	606582
1414	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	DLL2	692219,321
1415	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	DLL3	845726,8331
1416	Neurodevelopmental disorder with or without autism or seizures	CUL3	603136
1417	Neurodevelopmental disorder with or without autism or seizures	CUL4	603137
1418	Neurodevelopmental disorder with or without autism or seizures	CUL5	603138
1419	Neurodevelopmental disorder with poor growth and behavioral abnormalities	ATP9A	609126
1420	Neurodevelopmental disorder with poor growth and behavioral abnormalities	ATP9A	562511,2564
1421	Neurodevelopmental disorder with poor growth and behavioral abnormalities	ATP9A	727690,2891
1422	Neurodevelopmental disorder with poor growth and behavioral abnormalities	ATP9A	892869,3219
1423	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	CACNA1B	601012
1424	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	CACNA1B	657145,0773
1425	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	CACNA1B	822324,11
1426	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	CACNA1B	987503,1427
1427	Neurodevelopmental disorder with seizures and speech and walking impairment	DHPS	600944
1428	Neurodevelopmental disorder with seizures and speech and walking impairment	DHPS	666935,7308
1429	Neurodevelopmental disorder with seizures and speech and walking impairment	DHPS	820443,2428
1430	Neurodevelopmental disorder with severe motor impairment and absent language	DHX30	616423
1431	Neurodevelopmental disorder with severe motor impairment and absent language	DHX30	672353,6429
1432	Neurodevelopmental disorder with severe motor impairment and absent language	DHX30	825861,155
1433	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	DPH5
1434	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	DPH5	733756,6478
1435	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	DPH5	887264,1599
1436	Neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB1	116806
1437	Neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB2	305842,0581
1438	Neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB3	195459,0133
1439	Neurodevelopmental disorder with speech impairment and with or without seizures	CACNA1I	608230
1440	Neurodevelopmental disorder with speech impairment and with or without seizures	CACNA1I	665748,1519
1441	Neurodevelopmental disorder with speech impairment and with or without seizures	CACNA1I	830927,1846
1442	Neurodevelopmental disorder with speech impairment and with or without seizures	CACNA1I	996106,2173
1443	Neurodevelopmental disorder/Schizophrenia	DLG2	603583
1444	Neurodevelopmental disorder/Schizophrenia	DLG4	688607,3795
1445	Neurodevelopmental disorder/Schizophrenia	DLG6	842114,8916
1446	Neuromuscular disease and ocular or auditory anomalies with or without seizures	DHX16
1447	Neuromuscular disease and ocular or auditory anomalies with or without seizures	DHX16	670547,6722
1448	Neuromuscular disease and ocular or auditory anomalies with or without seizures	DHX16	824055,1843
1449	Nocturnal frontal lobe epilepsy	CRH	122560
1450	Nocturnal frontal lobe epilepsy	CRH	325499,3126
1451	Nocturnal frontal lobe epilepsy	CRH	215116,2679
1452	Nonspecific X-linked mental retardation	ARHGEF6	300267
1453	Nonspecific X-linked mental retardation	ARHGEF12	394125,7193
1454	Nonspecific X-linked mental retardation	ARHGEF18	265404,6516
1455	Nonspecific X-linked mental retardation	ARHGEF24	136683,584
O
1456	Oculogastrointestinal neurodevelopmental syndrome	CAPN15	619318
1457	Oculogastrointestinal neurodevelopmental syndrome	CAPN16	684674,916
1458	Oculogastrointestinal neurodevelopmental syndrome	CAPN17	849853,9488
1459	Oculogastrointestinal neurodevelopmental syndrome	CAPN18	1015032,981
1460	Okur-Chung neurodevelopmental syndrome	CSNK2A1	115440
1461	Okur-Chung neurodevelopmental syndrome	CSNK2A2	320963,0231
1462	Okur-Chung neurodevelopmental syndrome	CSNK2A3	210579,9783
1463	Orofaciodigital syndrome V	DDX59
1464	Orofaciodigital syndrome V	DDX47	648876,0235
1465	Orofaciodigital syndrome V	DDX153	802383,5355
1466	Orofaciodigital syndrome XIV	C2CD3
1467	Orofaciodigital syndrome XIV	C2CD4	648542,0026
1468	Orofaciodigital syndrome XIV	C2CD5	813721,0353
1469	Orofaciodigital syndrome XIV	C2CD6	978900,0681
1470	Osteopathia striata with cranial sclerosis	AMER1	300647
1471	Osteopathia striata with cranial sclerosis	AMER2	300648
1472	Osteopathia striata with cranial sclerosis	AMER3	300649
1473	Osteopathia striata with cranial sclerosis	AMER4	300650
1474	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	CA2
1475	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	CA14	651983,2325
1476	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	CA26	817162,2652
1477	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	CA38	982341,2979
1478	Osteoporosis, childhood- or juvenile-onset, with developmental delay/Microcephaly 19, primary, autosomal recessive	COPB2
1479	Osteoporosis, childhood- or juvenile-onset, with developmental delay/Microcephaly 19, primary, autosomal recessive	COPB4	354229,1462
1480	Osteoporosis, childhood- or juvenile-onset, with developmental delay/Microcephaly 19, primary, autosomal recessive	COPB6	243846,1014
1481	Osteoporosis, childhood- or juvenile-onset, with developmental delay/Microcephaly 19, primary, autosomal recessive	COPB8	133463,0567
P
1482	PEHO syndrome-like	CCDC88A	609736
1483	PEHO syndrome-like	CCDC88A	142240,0771
1484	PEHO syndrome-like	CCDC88A	-86334,84182
1485	PEHO syndrome-like	CCDC88A	-314909,7608
1486	PMID: 32590954	BLTP1	611565
1487	PMID: 32590955	BLTP2	617570,934
1488	PMID: 32590956	BLTP3	782749,9667
1489	PMID: 32590957	BLTP4	947928,9994
1490	Parenti-Mignot neurodevelopmental syndrome	CHD5	610771
1491	Parenti-Mignot neurodevelopmental syndrome	CHD5	610772
1492	Parenti-Mignot neurodevelopmental syndrome	CHD5	610773
1493	Parenti-Mignot neurodevelopmental syndrome	CHD5	610774
1494	Parkinson disease 19a, juvenile-onset / Parkinson disease 19b, early-onset	DNAJC6	608375
1495	Parkinson disease 19a, juvenile-onset / Parkinson disease 19b, early-onset	DNAJC6	704861,1161
1496	Parkinson disease 19a, juvenile-onset / Parkinson disease 19b, early-onset	DNAJC6	858368,6282
1497	Parkinsonism with spasticity, X-linked /Congenital disorder of glycosylation, type Iir/ Intellectual developmental disorder, X-linked, syndromic, Hedera type	ATP6AP2	300556
1498	Parkinsonism with spasticity, X-linked /Congenital disorder of glycosylation, type Iir/ Intellectual developmental disorder, X-linked, syndromic, Hedera type	ATP6AP4	547025,7221
1499	Parkinsonism with spasticity, X-linked /Congenital disorder of glycosylation, type Iir/ Intellectual developmental disorder, X-linked, syndromic, Hedera type	ATP6AP6	712204,7548
1500	Parkinsonism with spasticity, X-linked /Congenital disorder of glycosylation, type Iir/ Intellectual developmental disorder, X-linked, syndromic, Hedera type	ATP6AP8	877383,7875
1501	Periventricular heterotopia with microcephaly 608097	ARFGEF2	605371
1502	Periventricular heterotopia with microcephaly 608098	ARFGEF4	422730,401
1503	Periventricular heterotopia with microcephaly 608099	ARFGEF6	294009,3333
1504	Periventricular heterotopia with microcephaly 608100	ARFGEF8	165288,2657
1505	Periventricular nodular heterotopia 10	ARF9	336916,3559
1506	Periventricular nodular heterotopia 11	ARF13	208195,2882
1507	Periventricular nodular heterotopia 8	ARF1	618185
1508	Periventricular nodular heterotopia 9	ARF5	465637,4236
1509	Perlman syndrome	DIS3L2
1510	Perlman syndrome	DIS3L3	681383,4966
1511	Perlman syndrome	DIS3L4	834891,0087
1512	Peroxisomal acyl-CoA oxidase deficiency 264470	ACOX1	609751
1513	Peroxisomal acyl-CoA oxidase deficiency 264471	ACOX2	548196,2988
1514	Peroxisomal acyl-CoA oxidase deficiency 264472	ACOX3	827717,6624
1515	Peroxisomal acyl-CoA oxidase deficiency 264473	ACOX4	1107239,026
1516	Peters-plus syndrome	B3GLCT	610308
1517	Peters-plus syndrome	B3GLCT	574555,5609
1518	Peters-plus syndrome	B3GLCT	739734,5936
1519	Peters-plus syndrome	B3GLCT	904913,6263
1520	Pettigrew syndrome	AP1S2	300629
1521	Pettigrew syndrome	AP1S4	685948,6429
1522	Pettigrew syndrome	AP1S6	896550,4524
1523	Pettigrew syndrome	AP1S8	1107152,262
1524	Pilarowski-Bjornsson syndrome	CHD1
1525	Pilarowski-Bjornsson syndrome	CHD1	602890,0586
1526	Pilarowski-Bjornsson syndrome	CHD1	597647,0195
1527	Pilarowski-Bjornsson syndrome	CHD1	592403,9805
1528	Pitt-Hopkins like syndrome 1, {Autism susceptibility 15}	CNTNAP2	604569
1529	Pitt-Hopkins like syndrome 1, {Autism susceptibility 15}	CNTNAP4	375398,4972
1530	Pitt-Hopkins like syndrome 1, {Autism susceptibility 15}	CNTNAP6	265015,4525
1531	Pitt-Hopkins like syndrome 1, {Autism susceptibility 15}	CNTNAP8	154632,4077
1532	Poirier-Bienvenu neurodevelopmental syndrome	CSNK2B	115441
1533	Poirier-Bienvenu neurodevelopmental syndrome	CSNK2B	319450,9266
1534	Poirier-Bienvenu neurodevelopmental syndrome	CSNK2B	209067,8818
1535	Polymicrogyria, bilateral frontoparietal, 606854	ADGRG1	604110
1536	Polymicrogyria, bilateral frontoparietal, 606855	ADGRG2	607749,6667
1537	Polymicrogyria, bilateral frontoparietal, 606856	ADGRG3	605861,1667
1538	Polymicrogyria, bilateral frontoparietal, 606857	ADGRG4	603972,6667
1539	Pontocerebellar hypoplasia, type 10	CLP1
1540	Pontocerebellar hypoplasia, type 10	CHMP1A
1541	Pontocerebellar hypoplasia, type 11	CLP2	395055,7518
1542	Pontocerebellar hypoplasia, type 11	CHMP1A
1543	Pontocerebellar hypoplasia, type 12	CLP3	284672,707
1544	Pontocerebellar hypoplasia, type 13	CLP4	174289,6623
1545	Pontocerebellar hypoplasia, type 8	CHMP1A
1546	Pontocerebellar hypoplasia, type 9	CHMP1A
1547	Pontocerebellar hypoplasia, type 9 615809	AMPD2	102771
1548	Pontocerebellar hypoplasia, type 9 615810	AMPD3	801883,6
1549	Pontocerebellar hypoplasia, type 9 615811	AMPD4	1491382,1
1550	Pontocerebellar hypoplasia, type 9 615812	AMPD5	2180880,6
1551	Primary aldosteronism, seizures, and neurologic abnormalities / Sinoatrial node dysfunction and deafness	CACNA1D	114206
1552	Primary aldosteronism, seizures, and neurologic abnormalities / Sinoatrial node dysfunction and deafness	CACNA1D	660586,3071
1553	Primary aldosteronism, seizures, and neurologic abnormalities / Sinoatrial node dysfunction and deafness	CACNA1D	825765,3398
1554	Primary aldosteronism, seizures, and neurologic abnormalities / Sinoatrial node dysfunction and deafness	CACNA1D	990944,3725
1555	Primary microcephaly	AGMO	613738
1556	Primary microcephaly	AGMO	600564,6667
1557	Primary microcephaly	AGMO	590064,6667
1558	Primary microcephaly	AGMO	579564,6667
1559	Pyruvate dehydrogenase E2 deficiency	DLAT	608770
1560	Pyruvate dehydrogenase E2 deficiency	DLAT	684995,4381
1561	Pyruvate dehydrogenase E2 deficiency	DLAT	838502,9502
R
1562	Raynaud-Claes syndrome	CLCN4	302910
1563	Raynaud-Claes syndrome	CLCN4	408664,6203
1564	Raynaud-Claes syndrome	CLCN4	298281,5755
1565	Raynaud-Claes syndrome	CLCN4	187898,5308
1566	Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. Mosbech et al., Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. PMID: 25356388	CERS2	606920
1567	Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. Mosbech et al., Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. PMID: 25356389	CERS4	604123,7148
1568	Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. Mosbech et al., Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. PMID: 25356390	CERS6	598880,6758
1569	Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. Mosbech et al., Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. PMID: 25356391	CERS8	593637,6367
1570	Retinitis pigmentosa with or without skeletal anomalies	CWC27
1571	Retinitis pigmentosa with or without skeletal anomalies	CWC28	603726,7552
1572	Retinitis pigmentosa with or without skeletal anomalies	CWC29	757234,2673
1573	Ritscher-Schinzel syndrome 2	CCDC22	300859
1574	Ritscher-Schinzel syndrome 3	CCDC22	187955,0609
1575	Ritscher-Schinzel syndrome 4	DPYSL5
1576	Ritscher-Schinzel syndrome 4	CCDC22	-40619,85804
1577	Ritscher-Schinzel syndrome 5	DPYSL11	748204,4136
1578	Ritscher-Schinzel syndrome 5	CCDC22	-269194,777
1579	Ritscher-Schinzel syndrome 6	DPYSL17	901711,9257
S
1580	Seckel syndrome 1 / ?Cutaneous telangiectasia and cancer syndrome, familial	ATR	601215
1581	Seckel syndrome 1 / ?Cutaneous telangiectasia and cancer syndrome, familial	ATR	564231,8714
1582	Seckel syndrome 1 / ?Cutaneous telangiectasia and cancer syndrome, familial	ATR	729410,9041
1583	Seckel syndrome 1 / ?Cutaneous telangiectasia and cancer syndrome, familial	ATR	894589,9368
1584	Seckel syndrome 4 / Microcephaly 6, primary, autosomal recessive	CENPJ	609279
1585	Seckel syndrome 4 / Microcephaly 6, primary, autosomal recessive	CENPJ	607516,2695
1586	Seckel syndrome 4 / Microcephaly 6, primary, autosomal recessive	CENPJ	602273,2305
1587	Seckel syndrome 4 / Microcephaly 6, primary, autosomal recessive	CENPJ	597030,1914
1588	Seckel syndrome 6	CEP63
1589	Seckel syndrome 7	CEP63	605048,957
1590	Seckel syndrome 8	CEP63	599805,918
1591	Seckel syndrome 9	CEP63	594562,8789
1592	Seizures, cortical blindness, microcephaly syndrome / Deafness, autosomal dominant 1, with or without thrombocytopenia	DIAPH1	602121
1593	Seizures, cortical blindness, microcephaly syndrome / Deafness, autosomal dominant 1, with or without thrombocytopenia	DIAPH2	677771,5551
1594	Seizures, cortical blindness, microcephaly syndrome / Deafness, autosomal dominant 1, with or without thrombocytopenia	DIAPH3	831279,0672
1595	Seizures, microcephaly and brain calcifications	CLDN5
1596	Seizures, microcephaly and brain calcifications	CLDN6	405640,4273
1597	Seizures, microcephaly and brain calcifications	CLDN7	295257,3825
1598	Seizures, microcephaly and brain calcifications	CLDN8	184874,3378
1599	Shashi-Pena syndrome	ASXL2	612991
1600	Shashi-Pena syndrome	ASXL5	612992
1601	Shashi-Pena syndrome	ASXL8	612993
1602	Shashi-Pena syndrome	ASXL11	612994
1603	Short stature-micrognathia syndrome	ARCN1	600820
1604	Short stature-micrognathia syndrome	ARCN2	600821
1605	Short stature-micrognathia syndrome	ARCN3	600822
1606	Short stature-micrognathia syndrome	ARCN4	600823
1607	Shukla-Vernon syndrome	BCORL1	300688
1608	Shukla-Vernon syndrome	BCORL2	607247,2445
1609	Shukla-Vernon syndrome	BCORL3	772426,2772
1610	Shukla-Vernon syndrome	BCORL4	937605,3099
1611	Sifrim-Hitz-Weiss syndrome	CHD4
1612	Sifrim-Hitz-Weiss syndrome	CHD4
1613	Sifrim-Hitz-Weiss syndrome	CHD4
1614	Sifrim-Hitz-Weiss syndrome	CHD4
1615	Sjogren-Larsson syndrome	ALDH3A2	609523
1616	Sjogren-Larsson syndrome	ALDH3A3	197150,9
1617	Sjogren-Larsson syndrome	ALDH3A4	-28235,6
1618	Sjogren-Larsson syndrome	ALDH3A5	-253622,1
1619	Smith-Lemli-Opitz syndrome	DHCR7	602858
1620	Smith-Lemli-Opitz syndrome	DHCR27	661517,8186
1621	Smith-Lemli-Opitz syndrome	DHCR61	815025,3307
1622	Snijders Blok-Campeau syndrome	CHD3
1623	Snijders Blok-Campeau syndrome	CHD3
1624	Snijders Blok-Campeau syndrome	CHD3
1625	Snijders Blok-Campeau syndrome	CHD3
1626	Spastic paraplegia 26, autosomal recessive	B4GALNT1
1627	Spastic paraplegia 26, autosomal recessive	B4GALNT2	576276,1758
1628	Spastic paraplegia 26, autosomal recessive	B4GALNT3	741455,2085
1629	Spastic paraplegia 26, autosomal recessive	B4GALNT4	906634,2412
1630	Spastic paraplegia 47, autosomal recessive	AP4B1	607245
1631	Spastic paraplegia 47, autosomal recessive	AP4B2	764924,3214
1632	Spastic paraplegia 47, autosomal recessive	AP4B3	975526,131
1633	Spastic paraplegia 47, autosomal recessive	AP4B4	1186127,94
1634	Spastic paraplegia 50, autosomal recessive	AP4M1	602296
1635	Spastic paraplegia 50, autosomal recessive	AP4M2	817574,7738
1636	Spastic paraplegia 50, autosomal recessive	AP4M3	1028176,583
1637	Spastic paraplegia 50, autosomal recessive	AP4M4	1238778,393
1638	Spastic paraplegia 51, autosomal recessive	AP4E1	607244
1639	Spastic paraplegia 51, autosomal recessive	AP4E2	791249,5476
1640	Spastic paraplegia 51, autosomal recessive	AP4E3	1001851,357
1641	Spastic paraplegia 51, autosomal recessive	AP4E4	1212453,167
1642	Spastic paraplegia 52, autosomal recessive	AP4S1	607243
1643	Spastic paraplegia 52, autosomal recessive	AP4S2	843900
1644	Spastic paraplegia 52, autosomal recessive	AP4S3	1054501,81
1645	Spastic paraplegia 52, autosomal recessive	AP4S4	1265103,619
1646	Spastic paraplegia 54, autosomal recessive	DDHD2	615003
1647	Spastic paraplegia 54, autosomal recessive	DDHD3	639846,1698
1648	Spastic paraplegia 54, autosomal recessive	DDHD4	793353,6819
1649	Spastic paraplegia 56, autosomal recessive	CYP2U1	610670
1650	Spastic paraplegia 56, autosomal recessive	CYP2U2	614562,5796
1651	Spastic paraplegia 56, autosomal recessive	CYP2U3	768070,0917
1652	Spastic paraplegia 86, autosomal recessive	ABHD16A	142620
1653	Spastic paraplegia 86, autosomal recessive	ABHD16A	142620
1654	Spastic paraplegia 86, autosomal recessive	ABHD16A	142620
1655	Spastic paraplegia 86, autosomal recessive	ABHD16A	142620
1656	Speech delay, intellectual disability, motor delay, behavioural problems and autism	BRSK2
1657	Speech delay, intellectual disability, motor delay, behavioural problems and autism	BRSK3	633056,4683
1658	Speech delay, intellectual disability, motor delay, behavioural problems and autism	BRSK4	798235,501
1659	Speech delay, intellectual disability, motor delay, behavioural problems and autism	BRSK5	963414,5337
1660	Spinal muscular atrophy with progressive myoclonic epilepsy/Cortical dysplasia, complex, with other brain malformations 10	ASAH1	613468
1661	Spinal muscular atrophy with progressive myoclonic epilepsy/Cortical dysplasia, complex, with other brain malformations 11	ASAH2	358623,4065
1662	Spinal muscular atrophy with progressive myoclonic epilepsy/Cortical dysplasia, complex, with other brain malformations 12	ASAH3	184134,1061
1663	Spinal muscular atrophy with progressive myoclonic epilepsy/Cortical dysplasia, complex, with other brain malformations 13	ASAH4	9644,805741
1664	Spinocerebellar ataxia 40 / Hydrocephalus, congenital, 1	CCDC88C	611204
1665	Spinocerebellar ataxia 40 / Hydrocephalus, congenital, 2	CCDC88C	130811,3312
1666	Spinocerebellar ataxia 40 / Hydrocephalus, congenital, 3	CCDC88C	-97763,58777
1667	Spinocerebellar ataxia 40 / Hydrocephalus, congenital, 4	CCDC88C	-326338,5067
1668	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	CACNA1G	604065
1669	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	CACNA1G	664027,537
1670	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	CACNA1G	829206,5697
1671	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	CACNA1G	994385,6024
1672	Spinocerebellar ataxia, autosomal recessive 17	CWF19L1
1673	Spinocerebellar ataxia, autosomal recessive 18	CWF19L2	605532,7259
1674	Spinocerebellar ataxia, autosomal recessive 19	CWF19L3	759040,238
1675	Spinocerebellar ataxia, autosomal recessive 31	ATG7
1676	Spinocerebellar ataxia, autosomal recessive 32	ATG8	524657,7281
1677	Spinocerebellar ataxia, autosomal recessive 33	ATG9	689836,7608
1678	Spinocerebellar ataxia, autosomal recessive 34	ATG10	855015,7935
1679	Strømme syndrome	CENPF
1680	Strømme syndrome	CENPF
1681	Strømme syndrome	CENPF
1682	Strømme syndrome	CENPF
1683	Succinic semialdehyde dehydrogenase deficiency 271980	ALDH5A1	610045
1684	Succinic semialdehyde dehydrogenase deficiency 271981	ALDH5A2	469284,9044
1685	Succinic semialdehyde dehydrogenase deficiency 271982	ALDH5A3	395353,2794
1686	Succinic semialdehyde dehydrogenase deficiency 271983	ALDH5A4	321421,6544
T
1687	Takenouchi-Kosaki syndrome	CDC42
1688	Takenouchi-Kosaki syndrome	CDC43	96525,09333
1689	Takenouchi-Kosaki syndrome	CDC44	-132049,8256
1690	Takenouchi-Kosaki syndrome	CDC45	-360624,7446
1691	Teebi hypertelorism syndrome 2/ Elsahy-Waters syndrome	CDH11
1692	Teebi hypertelorism syndrome 2/ Elsahy-Waters syndrome	CDH11	73667,60144
1693	Teebi hypertelorism syndrome 2/ Elsahy-Waters syndrome	CDH11	-154907,3175
1694	Teebi hypertelorism syndrome 2/ Elsahy-Waters syndrome	CDH11	-383482,2365
1695	Temtamy syndrome	C12orf57	615140
1696	Temtamy syndrome	C12orf163	646821,3877
1697	Temtamy syndrome	C12orf269	812000,4204
1698	Temtamy syndrome	C12orf375	977179,4531
1699	Timothy syndrome/ Long QT syndrome 10	CACNA1C	824044,7249
1700	Timothy syndrome/ Long QT syndrome 11	CACNA1C	989223,7576
1701	Timothy syndrome/ Long QT syndrome 8	CACNA1C	114205
1702	Timothy syndrome/ Long QT syndrome 9	CACNA1C	658865,6922
1703	Trichohepatoneurodevelopmental syndrome	CCDC47
1704	Trichohepatoneurodevelopmental syndrome	CCDC47	165097,569
1705	Trichohepatoneurodevelopmental syndrome	CCDC47	-63477,34993
1706	Trichohepatoneurodevelopmental syndrome	CCDC47	-292052,2689
U
1707	Usmani-Riazuddin syndrome, autosomal dominant/Usmani-Riazuddin syndrome, autosomal recessive	AP1G1	603533
1708	Usmani-Riazuddin syndrome, autosomal dominant/Usmani-Riazuddin syndrome, autosomal recessive	AP1G2	1326299
1709	Usmani-Riazuddin syndrome, autosomal dominant/Usmani-Riazuddin syndrome, autosomal recessive	AP1G3	2049065
1710	Usmani-Riazuddin syndrome, autosomal dominant/Usmani-Riazuddin syndrome, autosomal recessive	AP1G4	2771831
V
1711	Van Maldergem syndrome 1	DCHS1
1712	Van Maldergem syndrome 1	DYNC1I2
1713	Van Maldergem syndrome 2	DCHS2	630816,3161
1714	Van Maldergem syndrome 2	DYNC1I3	616848,4286
1715	Van Maldergem syndrome 3	DCHS3	784323,8282
1716	Van Maldergem syndrome 3	DYNC1I4	631560,1429
1717	Ventriculomegaly with cystic kidney disease	CRB2
1718	Ventriculomegaly with cystic kidney disease	CRB3	330035,6021
1719	Ventriculomegaly with cystic kidney disease	CRB4	219652,5574
W
1720	Warsaw breakage syndrome	DDX11
1721	Warsaw breakage syndrome	DDX35	643458,1113
1722	Warsaw breakage syndrome	DDX59	796965,6234
1723	White-Kernohan syndrome	DDB1
1724	White-Kernohan syndrome	DDB2	636234,2283
1725	White-Kernohan syndrome	DDB3	789741,7404
1726	Wilson disease	ATP7B	606882
1727	Wilson disease	ATP7B	559070,0266
1728	Wilson disease	ATP7B	724249,0593
1729	Wilson disease	ATP7B	889428,092
1730	Woodhouse-Sakati syndrome	DCAF17
1731	Woodhouse-Sakati syndrome	DCAF18	629010,3454
1732	Woodhouse-Sakati syndrome	DCAF19	782517,8575
X
1733	Xia-Gibbs syndrome	AHDC1	615790
1734	Xia-Gibbs syndrome	AHDC2	1485450
1735	Xia-Gibbs syndrome	AHDC3	2355110
1736	Xia-Gibbs syndrome	AHDC4	3224770
Z
1737	Zimmermann-Laband syndrome 2	ATP6V1B2
1738	Zimmermann-Laband syndrome 3	ATP6V1B3	555628,7967
1739	Zimmermann-Laband syndrome 4	ATP6V1B4	720807,8295
1740	Zimmermann-Laband syndrome 5	ATP6V1B5	885986,8622