EPIDASD - Genelist

Neurology

#	Condition	Gene	OMIM ID
1	2-methylbutyrylglycinuria	ACADSB	600301
2	3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	609010
3	3-Methylcrotonyl-CoA carboxylase 2 deficiency	MCCC2	609014
4	3-hydroxyisobutryl-CoA hydrolase deficiency	HIBCH	610690
5	3-methylglutaconic aciduria	AUH	600529
6	3-methylglutaconic aciduria	CLPB	616254
7	3-methylglutaconic aciduria	DNAJC19	608977
8	3-methylglutaconic aciduria	HTRA2	606441
9	3-methylglutaconic aciduria	TIMM50	607381
10	3-methylglutaconic aciduria with deafness	SERAC1	614725
11	5-fluorouracil toxicity / Dihydropyrimidine dehydrogenase deficiency	DPYD	612779
A
12	ACTH-independent macronodular adrenal hyperplasia	GNAS	139320
13	AICA-ribosiduria due to ATIC deficiency	ATIC	601731
14	AUTISM	EN2	131310
15	Aarskog-Scott syndrome/Intellectual developmental disorder	FGD1	300546
16	Ablepharon-macrostomia syndrome/Barber-Say syndrome	TWIST2	607556
17	Achalasia-addisonianism-alacrimia syndrome	AAAS	605378
18	Acrocallosal syndrome/Joubert syndrome 12	KIF7	611254
19	Acrodysostosis 2	PDE4D	600129
20	Acyl-CoA dehydrogenase	ACADM	607008
21	Acyl-CoA dehydrogenase	ACADS	606885
22	Adams-Oliver syndrome 2	DOCK6	614194
23	Adams-Oliver syndrome 3	RBPJ	147183
24	Adenylosuccinase deficiency	ADSL	608222
25	Adrenoleukodystrophy	ABCD1	300371
26	Agenesis of corpus callosum	CDH2	114020
27	Agenesis of the corpus callosum with peripheral neuropathy	SLC12A6	604878
28	Aicardi-Goutieres syndrome 1	TREX1	606609
29	Aicardi-Goutieres syndrome 2	RNASEH2B	610326
30	Aicardi-Goutieres syndrome 3	RNASEH2C	610330
31	Aicardi-Goutieres syndrome 4	RNASEH2A	606034
32	Aicardi-Goutieres syndrome 5	SAMHD1	606754
33	Aicardi-Goutieres syndrome 6	ADAR	146920
34	Aicardi-Goutieres syndrome 7	IFIH1	606951
35	Al Kaissi syndrome	CDK10	603464
36	Al-Raqad syndrome	DCPS	610534
37	Alacrima	GMPPA	615495
38	Alazami syndrome	LARP7	612026
39	Alazami-Yuan syndrome	TAF6	602955
40	Alexander disease	GFAP	137780
41	Alfadhel syndrome	RAP1GDS1	179502
42	Allan-Herndon-Dudley syndrome	SLC16A2	300095
43	Alopecia-intellectual disability syndrome 4	LSS	600909
44	Alpha-aminoadipic and alpha-ketoadipic aciduria	DHTKD1	614984
45	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome	ATRX	300032
46	Alternating hemiplegia of childhood 1	ATP1A2	182340
47	Alternating hemiplegia of childhood 2;Catastrophic epilepsy	ATP1A3	182350
48	Alzahrani-Kuwahara syndrome	SMG8	613175
49	Aminoacylase 1 deficiency	ACY1	104620
50	Angelman syndrome	UBE3A	601623
51	Antley-Bixler syndrome/Apert syndrome/Crouzon syndrome	FGFR2	176943
52	Arboleda-Tham syndrome	KAT6A	601408
53	Argininemia 207800	ARG1	608313
54	Argininosuccinic aciduria	ASL	608310
55	Aromatic L-amino acid decarboxylase deficiency	DDC	107930
56	Arthrogryposis	PPP3CA	114105
57	Arthrogryposis	SLC35A3	605632
58	Arthrogryposis	VIPAS39	613401
59	Arthrogryposis	VPS33B	608552
60	Arthrogryposis multiplex congenita 3	SYNE1	608441
61	Arts syndrome/Charcot-Marie-Tooth disease	PRPS1	311850
62	Asparagine synthetase deficiency	ASNS	108370
63	Aspartylglucosaminuria	AGA	613228
64	Ataxia	ITFG2	617421
65	Ataxia-telangiectasia	ATM	607585
66	Athabaskan brainstem dysgenesis syndrome/Bosley-Salih-Alorainy syndrome	HOXA1	142955
67	Atypical neurodevelopment	DDX23	612172
68	Au-Kline syndrome	HNRNPK	600712
69	Autism	EIF4E	133440
70	Autism	PTCHD1	300828
71	Autism	RPL10	312173
72	Autism	TMLHE	300777
73	Autism spectrum disorder	JMJD1C	604503
74	Autism spectrum disorder	KDM5A	180202
75	Autism spectrum disorder	RFX4	603958
76	Autism susceptibility	NLGN3	300336
77	Autism susceptibility 17	SHANK2	603290
78	Autism-associated familial microdeletion of Xp11.22.	FAM120C	300741
79	Autosomal recessive intellectual developmental disorder	EZR	123900
80	Ayme-Gripp syndrome	MAF	177075
B
81	BDV syndrome	CPE	114855
82	Bachmann-Bupp syndrome	ODC1	165640
83	Bainbridge-Ropers syndrome	ASXL3	615115
84	Baker-Gordon syndrome	SYT1	185605
85	Band heterotopia	EML1	602033
86	Baraitser-Winter syndrome 1	ACTB	102630
87	Baraitser-Winter syndrome 2	ACTG1	102560
88	Baralle-Macken syndrome	COPB1	600959
89	Bardet-Biedl syndrome 1	BBS1	209901
90	Bardet-Biedl syndrome 13/Joubert syndrome 28/Meckel syndrome 1	MKS1	609883
91	Bardet-Biedl syndrome 14	TMEM67	609884
92	Bardet-Biedl syndrome 16	SDCCAG8	613524
93	Bardet-Biedl syndrome 17	LZTFL1	606568
94	Bardet-Biedl syndrome 19	IFT27	615870
95	Bardet-Biedl syndrome 2	BBS2	606151
96	Bardet-Biedl syndrome 20/Short-rib thoracic dysplasia 10 with or without polydactyly	IFT172	607386
97	Bardet-Biedl syndrome 21	CFAP418	614477
98	Bardet-Biedl syndrome 3	ARL6	608845
99	Bardet-Biedl syndrome 4	BBS4	600374
100	Bardet-Biedl syndrome 6	MKKS	604896
101	Bardet-Biedl syndrome 7	BBS7	607590
102	Bardet-Biedl syndrome 8	TTC8	608132
103	Bardet-Biedl syndrome 9	BBS9	607968
104	Bartter syndrome	BSND	606412
105	Basal cell nevus syndrome 1/Holoprosencephaly 7	PTCH1	601309
106	Basel-Vanagait-Smirin-Yosef syndrome	MED25	610197
107	Basilicata-Akhtar syndrome	MSL3	300609
108	Beaulieu-Boycott-Innes syndrome	THOC6	615403
109	Beck-Fahrner syndrome	TET3	613555
110	Beta-ureidopropionase deficiency	UPB1	606673
111	Biotinidase deficiency	BTD	609019
112	Birk-Landau-Perez syndrome	SLC30A9	604604
113	Bjornstad syndrome / GRACILE syndrome / Mitochondrial complex III deficiency	BCS1L	603647
114	Blepharophimosis-impaired intellectual development syndrome/Nicolaides-Baraitser syndrome	SMARCA2	600014
115	Bloom syndrome	BLM	604610
116	Bohring-Opitz syndrome	ASXL1	612990
117	Bone marrow failure syndrome 2	ERCC6L2	615667
118	Borjeson-Forssman-Lehmann syndrome	PHF6	300414
119	Bosch-Boonstra-Schaaf optic atrophy syndrome	NR2F1	132890
120	Bowen-Conradi syndrome	EMG1	611531
121	Brachycephaly	RPS23	603683
122	Brain malformations with or without urinary tract defects	NFIA	600727
123	Brain small vessel disease 2	COL4A2	120090
124	Brain small vessel disease 3	COLGALT1	617531
125	Brain small vessel disease with or without ocular anomalies	COL4A1	120130
126	Branched-chain keto acid dehydrogenase kinase deficiency	BCKDK	614901
127	Branchial arch abnormalities	KMT2D	602113
128	Brunner syndrome	MAOA	309850
129	Bryant-Li-Bhoj neurodevelopmental syndrome 1	H3F3A	601128
130	Bryant-Li-Bhoj neurodevelopmental syndrome 2	H3F3B	601058
131	Buratti-Harel syndrome	SIAH1	602212
C
132	C syndrome	CD96	606037
133	CATIFA syndrome	RIC1	610354
134	CEBALID syndrome	MN1	156100
135	CHARGE syndrome / Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	608892
136	CHILD syndrome/CK syndrome	NSDHL	300275
137	CHIME syndrome	PIGL	605947
138	CHOPS syndrome	AFF4	604417
139	CIMDAG syndrome	VPS4A	609982
140	CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.	CNKSR1	603272
141	COACH syndrome 3 /Joubert syndrome 7	RPGRIP1L	610937
142	CODAS syndrome	LONP1	605490
143	Campomelic dysplasia/Acampomelic campomelic dysplasia	SOX9	608160
144	Camurati-Engelmann disease/Inflammatory bowel disease	TGFB1	190180
145	Canavan disease 271900	ASPA	608034
146	Candidate gene - brain malformation	CELSR1	604523
147	Carbamoylphosphate synthetase I deficiency	CPS1	608307
148	Cardiac	TRAF7	606692
149	Cardioacrofacial dysplasia 2	PRKACB	176892
150	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 /Noonan syndrome 7	BRAF	164757
151	Cardiofaciocutaneous syndrome 2	KRAS	190070
152	Cardiofaciocutaneous syndrome 3	MAP2K1	176872
153	Cardiofaciocutaneous syndrome 4	MAP2K2	601263
154	Cardiofacioneurodevelopmental syndrome	CCDC32	618941
155	Cardiomyopathy	FKTN	607440
156	Carpenter's syndrome	RAB23	606144
157	Cataracts	FAR1	616107
158	Cavitating leukoencephalopathy with cytochrome c oxidase deficiency	COA8	616003
159	Cerebellar	MAB21L1	601280
160	Cerebellar ataxia	ATP8A2	605870
161	Cerebellar ataxia	RFC1	102579
162	Cerebellar ataxia	WDR81	614218
163	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	CA8	114815
164	Cerebellar atrophy	EMC1	616846
165	Cerebellar atrophy with seizures and variable developmental delay	CACNA2D2	607082
166	Cerebellar dysfunction	PRDM13	616741
167	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	CAMTA1	611501
168	Cerebellar hypoplasia	VLDLR	192977
169	Cerebellar hypoplasia/atrophy	OXR1	605609
170	Cerebellofaciodental syndrome	BRF1	604902
171	Cerebral creatine deficiency syndrome 1	SLC6A8	300036
172	Cerebral creatine deficiency syndrome 2	GAMT	601240
173	Cerebral dysgenesis	SNAP29	604202
174	Cerebral palsy	ADD3	601568
175	Cerebrocostomandibular syndrome	SNRPB	182282
176	Cerebrooculofacioskeletal syndrome 1/Cockayne syndrome	ERCC6	609413
177	Cerebrooculofacioskeletal syndrome 2/Trichothiodystrophy 1	ERCC2	126340
178	Cerebrooculofacioskeletal syndrome 3/Xeroderma pigmentosum	ERCC5	133530
179	Cerebrooculofacioskeletal syndrome 4	ERCC1	126380
180	Cerebroretinal microangiopathy with calcifications and cysts	CTC1	613129
181	Cerebrotendinous xanthomatosis	CYP27A1	606530
182	Ceroid lipofuscinosis	CLN3	607042
183	Ceroid lipofuscinosis	CLN5	608102
184	Ceroid lipofuscinosis	CLN6	606725
185	Ceroid lipofuscinosis	CLN8	607837
186	Ceroid lipofuscinosis	CTSD	116840
187	Ceroid lipofuscinosis	CTSF	603539
188	Ceroid lipofuscinosis	DNAJC5	611203
189	Ceroid lipofuscinosis	MFSD8	611124
190	Ceroid lipofuscinosis	PPT1	600722
191	Ceroid lipofuscinosis	TPP1	607998
192	Chanarin-Dorfman syndrome	ABHD5	604780
193	Charcot-Marie-Tooth disease	PNKP	605610
194	Chediak-Higashi syndrome	LYST	606897
195	Childhood absence epilepsy/Epilepsy	SCN9A	603415
196	Chilton-Okur-Chung neurodevelopmental syndrome	CDC42BPB	614062
197	Chondrodysplasia punctata	ARSL	300180
198	Chopra-Amiel-Gordon syndrome	ANKRD17	615929
199	Choreoathetosis	NKX2-1	600635
200	Chudley-McCullough syndrome	GPSM2	609245
201	Chung-Jansen syndrome	PHIP	612870
202	Ciliary dyskinesia	TP73	601990
203	Citrullinemia	ASS1	603470
204	Citrullinemia	SLC25A13	603859
205	Cleft palate	KDM1A	609132
206	Cleft palate	MEIS2	601740
207	Cockayne syndrome	ERCC8	609412
208	Coenzyme Q10 deficiency	COQ2	609825
209	Coenzyme Q10 deficiency	COQ4	612898
210	Coenzyme Q10 deficiency	COQ6	614647
211	Coenzyme Q10 deficiency	COQ8A	606980
212	Coenzyme Q10 deficiency	COQ9	612837
213	Coenzyme Q10 deficiency	PDSS1	607429
214	Coenzyme Q10 deficiency	PDSS2	610564
215	Coffin-Lowry syndrome/Intellectual developmental disorder	RPS6KA3	300075
216	Coffin-Siris syndrome 1	ARID1B	614556
217	Coffin-Siris syndrome 10	SOX4	184430
218	Coffin-Siris syndrome 11	SMARCD2	601736
219	Coffin-Siris syndrome 12	BICRA	605690
220	Coffin-Siris syndrome 2	ARID1A	603024
221	Coffin-Siris syndrome 3	SMARCB1	601607
222	Coffin-Siris syndrome 4	SMARCA4	603254
223	Coffin-Siris syndrome 5	SMARCE1	603111
224	Coffin-Siris syndrome 6	ARID2	609539
225	Coffin-Siris syndrome 7	DPF2	601671
226	Coffin-Siris syndrome 8	SMARCC2	601734
227	Cohen syndrome	VPS13B	607817
228	Cohen-Gibson syndrome	EED	605984
229	Combined D-2- and L-2-hydroxyglutaric aciduria/Myasthenic syndrome	SLC25A1	190315
230	Combined oxidative phosphorylation deficiency 1	GFM1	606639
231	Combined oxidative phosphorylation deficiency 10	MTO1	614667
232	Combined oxidative phosphorylation deficiency 11	RMND1	614917
233	Combined oxidative phosphorylation deficiency 12	EARS2	612799
234	Combined oxidative phosphorylation deficiency 13/Deafness	PNPT1	610316
235	Combined oxidative phosphorylation deficiency 14/Spastic paraplegia 77	FARS2	611592
236	Combined oxidative phosphorylation deficiency 15/Mitochondrial complex I deficiency	MTFMT	611766
237	Combined oxidative phosphorylation deficiency 17	ELAC2	605367
238	Combined oxidative phosphorylation deficiency 18	SFXN4	615564
239	Combined oxidative phosphorylation deficiency 20	VARS2	612802
240	Combined oxidative phosphorylation deficiency 22/Mitochondrial complex V (ATP synthase) deficiency	ATP5F1A	164360
241	Combined oxidative phosphorylation deficiency 23	GTPBP3	608536
242	Combined oxidative phosphorylation deficiency 24	NARS2	612803
243	Combined oxidative phosphorylation deficiency 27	CARS2	612800
244	Combined oxidative phosphorylation deficiency 28	SLC25A26	611037
245	Combined oxidative phosphorylation deficiency 29	TXN2	609063
246	Combined oxidative phosphorylation deficiency 3	TSFM	604723
247	Combined oxidative phosphorylation deficiency 32	MRPS34	611994
248	Combined oxidative phosphorylation deficiency 35	TRIT1	617840
249	Combined oxidative phosphorylation deficiency 44	FASTKD2	612322
250	Combined oxidative phosphorylation deficiency 5	MRPS22	605810
251	Combined oxidative phosphorylation deficiency 53	C2orf69	619219
252	Combined oxidative phosphorylation deficiency 55	POLRMT	601778
253	Combined oxidative phosphorylation deficiency 6	AIFM1	300169
254	Combined oxidative phosphorylation deficiency 7/Spastic paraplegia 55	MTRFR	613541
255	Combined oxidative phosphorylation deficiency 8/Leukoencephalopathy	AARS2	612035
256	Congenital cataracts	CTDP1	604927
257	Congenital contractures of the limbs and face	NALCN	611549
258	Congenital disorder of deglycosylation 1	NGLY1	610661
259	Congenital disorder of deglycosylation 2	MAN2C1	154580
260	Congenital disorder of glycosylation	ALG1	605907
261	Congenital disorder of glycosylation	ALG11	613666
262	Congenital disorder of glycosylation	ALG12	607144
263	Congenital disorder of glycosylation	ALG2	607905
264	Congenital disorder of glycosylation	ALG3	608750
265	Congenital disorder of glycosylation	ALG6	604566
266	Congenital disorder of glycosylation	ALG8	608103
267	Congenital disorder of glycosylation	B4GALT1	137060
268	Congenital disorder of glycosylation	COG1	606973
269	Congenital disorder of glycosylation	COG4	606976
270	Congenital disorder of glycosylation	COG5	606821
271	Congenital disorder of glycosylation	COG6	606977
272	Congenital disorder of glycosylation	COG7	606978
273	Congenital disorder of glycosylation	COG8	606979
274	Congenital disorder of glycosylation	DDOST	602202
275	Congenital disorder of glycosylation	DOLK	610746
276	Congenital disorder of glycosylation	DPAGT1	191350
277	Congenital disorder of glycosylation	DPM1	603503
278	Congenital disorder of glycosylation	DPM2	603564
279	Congenital disorder of glycosylation	EDEM3	610214
280	Congenital disorder of glycosylation	GALNT2	602274
281	Congenital disorder of glycosylation	MAGT1	300715
282	Congenital disorder of glycosylation	MGAT2	602616
283	Congenital disorder of glycosylation	MOGS	601336
284	Congenital disorder of glycosylation	MPDU1	604041
285	Congenital disorder of glycosylation	MPI	154550
286	Congenital disorder of glycosylation	NUS1	610463
287	Congenital disorder of glycosylation	PMM2	601785
288	Congenital disorder of glycosylation	RFT1	611908
289	Congenital disorder of glycosylation	SLC35A1	605634
290	Congenital disorder of glycosylation	SLC35A2	314375
291	Congenital disorder of glycosylation	SLC35C1	605881
292	Congenital disorder of glycosylation	SLC39A8	608732
293	Congenital disorder of glycosylation	SRD5A3	611715
294	Congenital disorder of glycosylation	SSR4	300090
295	Congenital disorder of glycosylation	STT3A	601134
296	Congenital disorder of glycosylation	TMEM165	614726
297	Congenital disorder of glycosylation type Il	ALG9	606941
298	Congenital disorder of glycosylation with defective fucosylation 1	FUT8	602589
299	Congenital disorder of glycosylation with defective fucosylation 2	FCSK	608675
300	Congenital heart defects	CDK13	603309
301	Congenital heart defects and ectodermal dysplasia	PRKD1	605435
302	Congenital hypotonia	ATN1	607462
303	Congenital myopathy 20	RYR3	180903
304	Convulsions	PRRT2	614386
305	Cornelia de Lange syndrome (CdLS)	BRD4	608749
306	Cornelia de Lange syndrome 1	NIPBL	608667
307	Cornelia de Lange syndrome 2/Developmental and epileptic encephalopathy 85	SMC1A	300040
308	Cornelia de Lange syndrome 3	SMC3	606062
309	Cornelia de Lange syndrome 4	RAD21	606462
310	Cornelia de Lange syndrome 5	HDAC8	300269
311	Corpus callosum	IGBP1	300139
312	Cortical dysplasia	APC2	612034
313	Cortical dysplasia	CTNNA2	114025
314	Cortical dysplasia	KIF2A	602591
315	Cortical dysplasia	KIF5C	604593
316	Cortical dysplasia	TUBB	191130
317	Cortical dysplasia	TUBB2A	615101
318	Cortical dysplasia	TUBB2B	612850
319	Cortical dysplasia	TUBB3	602661
320	Cortical dysplasia	TUBG1	191135
321	Cortical malformations	LAMC3	604349
322	Costello syndrome/Schimmelpenning-Feuerstein-Mims syndrome	HRAS	190020
323	Cowden syndrome 1/Lhermitte-Duclos disease/Macrocephaly/autism syndrome	PTEN	601728
324	Cranial dysinnervation disorder	NEUROG1	601726
325	Craniofacial dysmorphism	TMCO1	614123
326	Craniosynostosis 6 /Structural brain anomalies with impaired intellectual development	ZIC1	600470
327	Culler-Jones syndrome/Holoprosencephaly 9	GLI2	165230
328	Cutis laxa	ALDH18A1	138250
329	Cutis laxa	ATP6V0A2	611716
330	Cutis laxa	ATP6V1A	607027
331	Cutis laxa	PYCR1	179035
D
332	D-2-hydroxyglutaric aciduria	D2HGDH	609186
333	D-bifunctional protein deficiency/Perrault syndrome 1	HSD17B4	601860
334	D-glyceric aciduria	GLYCTK	610516
335	DEEAH syndrome/Neurodevelopmental disorder with dysmorphic facies	MADD	603584
336	DEGCAGS syndrome	ZNF699	609571
337	Dandy-Walker malformation and occipital cephaloceles	NID1	131390
338	Danon disease	LAMP2	309060
339	Deafness	BCAP31	300398
340	Deafness	PSMC3	186852
341	Delpire-McNeill syndrome/Kilquist syndrome	SLC12A2	600840
342	Den Hoed-de Boer-Voisin syndrome/Developmental delay	SATB1	602075
343	Dent disease 2/Lowe syndrome	OCRL	300535
344	Dentici-Novelli neurodevelopmental syndrome	ZNF526	614387
345	Desanto-Shinawi syndrome	WAC	615049
346	Desbuquois dysplasia 2	XYLT1	608124
347	Desmosterolosis	DHCR24	606418
348	Developmental & epileptic encephalopathy	SLC32A1	616440
349	Developmental and epileptic encephalopathy	ARX	300382
350	Developmental and epileptic encephalopathy	CHRM1	118510
351	Developmental and epileptic encephalopathy	CSNK1G1	606274
352	Developmental and epileptic encephalopathy	KCND2	605410
353	Developmental and epileptic encephalopathy	MAPK10	602897
354	Developmental and epileptic encephalopathy	RAB11A	605570
355	Developmental and epileptic encephalopathy	TMEM63B	619952
356	Developmental and epileptic encephalopathy 100	FBXO28	609100
357	Developmental and epileptic encephalopathy 102	SLC38A3	604437
358	Developmental and epileptic encephalopathy 103	KCNC2	176256
359	Developmental and epileptic encephalopathy 104	ATP6V0A1	192130
360	Developmental and epileptic encephalopathy 105 with hypopituitarism	HID1	605752
361	Developmental and epileptic encephalopathy 106	UFSP2	611482
362	Developmental and epileptic encephalopathy 107	NAPB	611270
363	Developmental and epileptic encephalopathy 11/Episodic ataxia	SCN2A	182390
364	Developmental and epileptic encephalopathy 110	CACNA2D1	114204
365	Developmental and epileptic encephalopathy 12	PLCB1	607120
366	Developmental and epileptic encephalopathy 14/Epilepsy nocturnal frontal lobe	KCNT1	608167
367	Developmental and epileptic encephalopathy 15/Intellectual developmental disorder	ST3GAL3	606494
368	Developmental and epileptic encephalopathy 16/DOORS syndrome/Epilepsy	TBC1D24	613577
369	Developmental and epileptic encephalopathy 17	GNAO1	139311
370	Developmental and epileptic encephalopathy 18	SZT2	615463
371	Developmental and epileptic encephalopathy 19/Epilepsy	GABRA1	137160
372	Developmental and epileptic encephalopathy 2	CDKL5	300203
373	Developmental and epileptic encephalopathy 21	NECAP1	611623
374	Developmental and epileptic encephalopathy 23	DOCK7	615730
375	Developmental and epileptic encephalopathy 24	HCN1	602780
376	Developmental and epileptic encephalopathy 25	SLC13A5	608305
377	Developmental and epileptic encephalopathy 26	KCNB1	600397
378	Developmental and epileptic encephalopathy 27/Intellectual developmental disorder	GRIN2B	138252
379	Developmental and epileptic encephalopathy 28/Spinocerebellar ataxia	WWOX	605131
380	Developmental and epileptic encephalopathy 3	SLC25A22	609302
381	Developmental and epileptic encephalopathy 30	SIK1	605705
382	Developmental and epileptic encephalopathy 31	DNM1	602377
383	Developmental and epileptic encephalopathy 32	KCNA2	176262
384	Developmental and epileptic encephalopathy 33 / Intellectual developmental disorder	EEF1A2	602959
385	Developmental and epileptic encephalopathy 35	ITPA	147520
386	Developmental and epileptic encephalopathy 35	ITPR1	147265
387	Developmental and epileptic encephalopathy 36 / Congenital disorder of glycosylation	ALG13	300776
388	Developmental and epileptic encephalopathy 37	FRRS1L	604574
389	Developmental and epileptic encephalopathy 39	SLC25A12	603667
390	Developmental and epileptic encephalopathy 4	STXBP1	602926
391	Developmental and epileptic encephalopathy 40	GUF1	617064
392	Developmental and epileptic encephalopathy 41	SLC1A2	600300
393	Developmental and epileptic encephalopathy 42 / Episodic ataxia	CACNA1A	601011
394	Developmental and epileptic encephalopathy 43/Epilepsy	GABRB3	137192
395	Developmental and epileptic encephalopathy 45	GABRB1	137190
396	Developmental and epileptic encephalopathy 46	GRIN2D	602717
397	Developmental and epileptic encephalopathy 47	FGF12	601513
398	Developmental and epileptic encephalopathy 49	DENND5A	617278
399	Developmental and epileptic encephalopathy 5	SPTAN1	182810
400	Developmental and epileptic encephalopathy 50	CAD	114010
401	Developmental and epileptic encephalopathy 51	MDH2	154100
402	Developmental and epileptic encephalopathy 52/Generalized epilepsy with febrile seizures plus	SCN1B	600235
403	Developmental and epileptic encephalopathy 53/Parkinson disease 20	SYNJ1	604297
404	Developmental and epileptic encephalopathy 54	HNRNPU	602869
405	Developmental and epileptic encephalopathy 55	PIGP	605938
406	Developmental and epileptic encephalopathy 56	YWHAG	605356
407	Developmental and epileptic encephalopathy 57	KCNT2	610044
408	Developmental and epileptic encephalopathy 58/Obesity	NTRK2	600456
409	Developmental and epileptic encephalopathy 59	GABBR2	607340
410	Developmental and epileptic encephalopathy 60	CNPY3	610774
411	Developmental and epileptic encephalopathy 61	ADAM22	603709
412	Developmental and epileptic encephalopathy 62/Epilepsy	SCN3A	182391
413	Developmental and epileptic encephalopathy 63	CPLX1	605032
414	Developmental and epileptic encephalopathy 64	RHOBTB2	607352
415	Developmental and epileptic encephalopathy 65	CYFIP2	606323
416	Developmental and epileptic encephalopathy 66	PACS2	610423
417	Developmental and epileptic encephalopathy 67	CUX2	610648
418	Developmental and epileptic encephalopathy 68	TRAK1	608112
419	Developmental and epileptic encephalopathy 69	CACNA1E	601013
420	Developmental and epileptic encephalopathy 6B	SCN1A	182389
421	Developmental and epileptic encephalopathy 7/Myokymia/Seizures	KCNQ2	602235
422	Developmental and epileptic encephalopathy 70	PHACTR1	608723
423	Developmental and epileptic encephalopathy 72	NEUROD2	601725
424	Developmental and epileptic encephalopathy 73	RNF13	609247
425	Developmental and epileptic encephalopathy 74/Febrile seizures	GABRG2	137164
426	Developmental and epileptic encephalopathy 75	PARS2	612036
427	Developmental and epileptic encephalopathy 78	GABRA2	137140
428	Developmental and epileptic encephalopathy 79	GABRA5	137142
429	Developmental and epileptic encephalopathy 80	PIGB	604122
430	Developmental and epileptic encephalopathy 81	DMXL2	612186
431	Developmental and epileptic encephalopathy 82	GOT2	138150
432	Developmental and epileptic encephalopathy 83	UGP2	191760
433	Developmental and epileptic encephalopathy 84	UGDH	603370
434	Developmental and epileptic encephalopathy 86	DALRD3	618904
435	Developmental and epileptic encephalopathy 87	CDK19	614720
436	Developmental and epileptic encephalopathy 89	GAD1	605363
437	Developmental and epileptic encephalopathy 9	PCDH19	300460
438	Developmental and epileptic encephalopathy 90/Intellectual developmental disorder	FGF13	300070
439	Developmental and epileptic encephalopathy 92	GABRB2	600232
440	Developmental and epileptic encephalopathy 94	CHD2	602119
441	Developmental and epileptic encephalopathy 95	PIGS	610271
442	Developmental and epileptic encephalopathy 97	CELF2	602538
443	Developmental and/or behavioral abnormalities	LHX2	603759
444	Developmental delay	ARF3	103190
445	Developmental delay	ARFGEF1	604141
446	Developmental delay	CHL1	607416
447	Developmental delay	DNM3	611445
448	Developmental delay	FBXW7	606278
449	Developmental delay	FRY	614818
450	Developmental delay	MORC2	616661
451	Developmental delay	PABPC1	604679
452	Developmental delay	PARP6	619439
453	Developmental delay	PTPN4	176878
454	Developmental delay	SRCAP	611421
455	Developmental delay	U2AF2	191318
456	Developmental delay & macrocephaly	ATXN2L	607931
457	Developmental delay and microcephaly	HMGB1	163905
458	Developmental delay and seizures with or without movement abnormalities / Retinitis pigmentosa 59	DHDDS	608172
459	Developmental delay with or without dysmorphic facies and autism	TRRAP	603015
460	Developmental delay with or without intellectual impairment or behavioral abnormalities	TAOK1	610266
461	Developmental delay with short stature	DPH1	603527
462	Developmental delay with short stature	DPH2	603456
463	Developmental delay with sleep apnea	KCNK3	603220
464	Developmental delay with variable intellectual disability and dysmorphic facies	JARID2	601594
465	Developmental delay with variable intellectual impairment and behavioral abnormalities	TCF20	603107
466	Developmental delay with variable neurologic and brain abnormalities	LMBRD2	619490
467	Developmental delay/intellectual disability	CNOT9	612054
468	Developmental delay/intellectual disability	KLF7	604865
469	Developmental disorder	EPHA7	602190
470	DiGeorge syndrome/Tetralogy of Fallot/Velocardiofacial syndrome	TBX1	602054
471	Diabetes	KCNJ11	600937
472	Diabetes mellitus	GLIS3	610192
473	Diamond-Blackfan anemia 21	HEATR3	614951
474	Dias-Logan syndrome	BCL11A	606557
475	Diencephalic-mesencephalic junction dysplasia syndrome 1	PCDH12	605622
476	Diencephalic-mesencephalic junction dysplasia syndrome 2	GSX2	616253
477	Diets-Jongmans syndrome	KDM3B	609373
478	Dihydrolipoamide dehydrogenase deficiency	DLD	238331
479	Dihydropyrimidinuria	DPYS	613326
480	Donnai-Barrow syndrome	LRP2	600073
481	Duchenne muscular dystrophy / Cardiomyopathy	DMD	300377
482	Dworschak-Punetha neurodevelopmental syndrome	PLXNA1	601055
483	Dyggve-Melchior-Clausen disease	DYM	607461
484	Dyskeratosis congenita	DKC1	300126
485	Dyskeratosis congenita	NHP2	606470
486	Dyskeratosis congenita	PARN	604212
487	Dyskeratosis congenita	RTEL1	608833
488	Dyskeratosis congenita	TERT	187270
489	Dyskinesia	PDE10A	610652
490	Dyskinesia with orofacial involvement	ADCY5	600293
491	Dystonia	GCH1	600225
492	Dystonia	SPR	182125
493	Dystonia 16	PRKRA	603424
494	Dystonia 22	TSPOAP1	610764
495	Dystonia 32 /Leukodystrophy	VPS11	608549
496	Dystonia 4	TUBB4A	602662
497	Dystonia-1	TOR1A	605204
498	Dystonia-Parkinsonism	TAF1	313650
E
499	EPILEPSY	PRICKLE2	608501
500	Encephalopathy	BSCL2	606158
501	Encephalopathy	DNM1L	603850
502	Encephalopathy	LIPT2	617659
503	Encephalopathy	MECP2	300005
504	Encephalopathy	NUP214	114350
505	Encephalopathy	RANBP2	601181
506	Encephalopathy	SERPINI1	602445
507	Encephalopathy	TBCD	604649
508	Encephalopathy	TBCE	604934
509	Encephalopathy	TRAPPC12	614139
510	Encephalopathy	TRAPPC2L	610970
511	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	MFF	614785
512	Epilepsy	ADGRL1	616416
513	Epilepsy	ADRA2B	104260
514	Epilepsy	ALDH7A1	107323
515	Epilepsy	ATP6V0C	108745
516	Epilepsy	CERS1	606919
517	Epilepsy	CHRNA2	118502
518	Epilepsy	CHRNA4	118504
519	Epilepsy	CHRNB2	118507
520	Epilepsy	CNTN2	190197
521	Epilepsy	CPA6	609562
522	Epilepsy	CSTB	601145
523	Epilepsy	DEPDC5	614191
524	Epilepsy	EFHC1	608815
525	Epilepsy	EPM2A	607566
526	Epilepsy	GABRA3	305660
527	Epilepsy	GABRD	137163
528	Epilepsy	GAL	137035
529	Epilepsy	GOSR2	604027
530	Epilepsy	GRIN2A	138253
531	Epilepsy	KCNC1	176258
532	Epilepsy	KCTD7	611725
533	Epilepsy	LGI1	604619
534	Epilepsy	LMNB2	150341
535	Epilepsy	NHLRC1	608072
536	Epilepsy	NPRL2	607072
537	Epilepsy	NPRL3	600928
538	Epilepsy	PLPBP	604436
539	Epilepsy	POU3F3	602480
540	Epilepsy	PRDM8	616639
541	Epilepsy	PRICKLE1	608500
542	Epilepsy	RELN	600514
543	Epilepsy	RORB	601972
544	Epilepsy	SAMD12	618073
545	Epilepsy	SCARB2	602257
546	Epilepsy	SEMA6B	608873
547	Epilepsy	SETD1A	611052
548	Epilepsy	SLC12A5	606726
549	Epilepsy	SLC2A1	138140
550	Epilepsy	STARD7	616712
551	Epilepsy	SYN1	313440
552	Epilepsy	TRA2B	602719
553	Epilepsy	TXNRD1	601112
554	Epileptic encephalopathy	AARS1	601065
555	Epileptic encephalopathy	ACTL6B	612458
556	Epileptic encephalopathy	AP3B2	602166
557	Epileptic encephalopathy	ARHGEF9	300429
558	Epileptic encephalopathy	ARV1	611647
559	Epileptic encephalopathy	KCNH5	605716
560	Epileptic encephalopathy	NRXN2	600566
561	Episodic ataxia	CACNB4	601949
562	Episodic ataxia/myokymia syndrome	KCNA1	176260
563	Ethylmalonic encephalopathy	ETHE1	608451
564	Exostoses	EXT2	608210
F
565	Facial dysmorphism	KCNK4	605720
566	Fanconi anemia	FANCA	607139
567	Fanconi anemia	FANCC	613899
568	Fanconi anemia	FANCD2	613984
569	Fanconi anemia	FANCE	613976
570	Fanconi anemia	FANCI	611360
571	Fanconi anemia	RAD51	179617
572	Fanconi anemia	RAF1	164760
573	Fanconi renotubular syndrome 1/Cerebral creatine deficiency syndrome 3	GATM	602360
574	Faundes-Banka syndrome	EIF5A	600187
575	Febrile epilepsy	SLC7A11	607933
576	Febrile seizures	ADGRV1	602851
577	Febrile seizures	HCN2	602781
578	Feingold syndrome 1	MYCN	164840
579	Filippi syndrome	CKAP2L	616174
580	Fliedner-Zweier syndrome	SCAF4	616023
581	Focal cortical dysplasia	MTOR	601231
582	Focal cortical dysplasia	TSC1	605284
583	Focal cortical dysplasia	TSC2	191092
584	Focal dermal hypoplasia	PORCN	300651
585	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	TRIM8	606125
586	Folate malabsorption	SLC46A1	611672
587	Fragile X syndrome	FMR1	309550
588	Fraser syndrome 1	FRAS1	607830
589	Frontonasal dysplasia 1	ALX3	606014
590	Frontonasal dysplasia 2	ALX4	605420
591	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	VCP	601023
592	Frontotemporal lobar degeneration with ubiquitin-positive inclusions/Aphasia	GRN	138945
593	Fucosidosis	FUCA1	612280
594	Fumarase deficiency	FH	136850
G
595	GABA-transaminase deficiency	ABAT	137150
596	GAND syndrome	GATAD2B	614998
597	GAPO syndrome	ANTXR1	606410
598	GM1-gangliosidosis	GLB1	611458
599	GM2-gangliosidosis	GM2A	613109
600	GM2-gangliosidosis	HEXA	606869
601	Gabriele-de Vries syndrome	YY1	600013
602	Galactose epimerase deficiency	GALE	606953
603	Galactosemia	GALT	606999
604	Galactosialidosis	CTSA	613111
605	Galloway-Mowat syndrome 1	WDR73	616144
606	Galloway-Mowat syndrome 2	LAGE3	300060
607	Galloway-Mowat syndrome 3	OSGEP	610107
608	Galloway-Mowat syndrome 4	TP53RK	608679
609	Galloway-Mowat syndrome 5	TPRKB	608680
610	Galloway-Mowat syndrome 6/Microcephaly	WDR4	605924
611	Galloway-Mowat syndrome 7	NUP107	607617
612	Gaucher disease	GBA	606463
613	Generalized epilepsy	SOX11	600898
614	Generalized epilepsy with febrile seizures plus	STX1B	601485
615	Genitopatellar syndrome/SBBYSS syndrome	KAT6B	605880
616	Genitourinary and/or/brain malformation syndrome	PPP1R12A	602021
617	Glass syndrome	SATB2	608148
618	Global development delay and intellectual disability	KIF21B	608322
619	Global developmental delay	ARL14EP	612295
620	Global developmental delay	DMBX1	607410
621	Global developmental delay	PALS1	606958
622	Global developmental delay	SNX27	611541
623	Global developmental delay	ST7	600833
624	Global developmental delay	TUBA3E	619918
625	Global developmental delay	ZNF148	601897
626	Global developmental delay with or without impaired intellectual development	CUX1	116896
627	Global developmental delay with speech and behavioral abnormalities	TNRC6B	610740
628	Glutamate formiminotransferase deficiency	FTCD	606806
629	Glutamine deficiency	GLUL	138290
630	Glutaric acidemia IIA	ETFA	608053
631	Glutaric acidemia IIB	ETFB	130410
632	Glutaric acidemia IIC	ETFDH	231675
633	Glutaricaciduria	GCDH	608801
634	Glutathione synthetase deficiency/	GSS	601002
635	Glycerol kinase deficiency	GK	300474
636	Glycine encephalopathy	AMT	238310
637	Glycine encephalopathy	GCSH	238330
638	Glycine encephalopathy	GLDC	238300
639	Glycine encephalopathy with normal serum glycine	SLC6A9	601019
640	Glycogen storage disease XII	ALDOA	103850
641	Glycosylphosphatidylinositol biosynthesis defect 11	PIGW	610275
642	Glycosylphosphatidylinositol biosynthesis defect 15	GPAA1	603048
643	Glycosylphosphatidylinositol biosynthesis defect 16	PIGC	601730
644	Glycosylphosphatidylinositol biosynthesis defect 17	PIGH	600154
645	Glycosylphosphatidylinositol deficiency	PIGM	610273
646	Goldberg-Shprintzen megacolon syndrome	KIFBP	609367
647	Gracile bone dysplasia/Kenny-Caffey syndrome	FAM111A	615292
648	Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome/Polydactyly	GLI3	165240
649	Griscelli syndrome	MYO5A	160777
650	Growth retardation	FTO	610966
651	Growth retardation	IARS1	600709
652	Growth retardation with deafness and mental retardation due to IGF1 deficiency	IGF1	147440
H
653	HARP syndrome/Neurodegeneration with brain iron accumulation 1	PANK2	606157
654	HELLP syndrome	HADHA	600890
655	HGMD: Agenesis of corpus callosum/developmental delay/microcephaly/seizures	ASTN1	600904
656	HMG-CoA lyase deficiency	HMGCL	613898
657	HSD10 mitochondrial disease	HSD17B10	300256
658	Halperin-Birk syndrome	SEC31A	610257
659	Hamamy syndrome	IRX5	606195
660	Hao-Fountain syndrome	USP7	602519
661	Harel-Yoon syndrome/Pontocerebellar hypoplasia	ATAD3A	612316
662	Hartnup disorder	SLC6A19	608893
663	Heart and brain malformation syndrome/Neurodevelopmental disorder with intention tremor	SMG9	613176
664	Helsmoortel-van der Aa syndrome	ADNP	611386
665	Hemorrhagic destruction of the brain	JAM3	606871
666	Hengel-Maroofian-Schols syndrome	BCAS3	607470
667	Hennekam lymphangiectasia-lymphedema syndrome 1	CCBE1	612753
668	Heterotopia	FLNA	300017
669	Heyn-Sproul-Jackson syndrome / Tatton-Brown-Rahman syndrome	DNMT3A	602769
670	Hiatt-Neu-Cooper neurodevelopmental syndrome	RALA	179550
671	Hijazi-Reis syndrome	TCEAL1	300237
672	Histidinemia	HAL	609457
673	Hogue-Janssens syndrome 1	PPP2R5D	601646
674	Holocarboxylase synthetase deficiency	HLCS	609018
675	Holoprosencephaly	MATN4	603897
676	Holoprosencephaly 11	CDON	608707
677	Holoprosencephaly 12	CNOT1	604917
678	Holoprosencephaly 13	STAG2	300826
679	Holoprosencephaly 2/Schizencephaly	SIX3	603714
680	Holoprosencephaly 3/Schizencephaly	SHH	600725
681	Holoprosencephaly 4	TGIF1	602630
682	Holoprosencephaly 5	ZIC2	603073
683	Homocystinuria	CBS	613381
684	Homocystinuria	MMADHC	611935
685	Homocystinuria due to MTHFR deficiency	MTHFR	607093
686	Homocystinuria-megaloblastic anemia	MTR	156570
687	Homocystinuria-megaloblastic anemia	MTRR	602568
688	Houge-Janssens syndrome 2	PPP2R1A	605983
689	Houge-Janssens syndrome 3	PPP2CA	176915
690	Huppke-Brendel syndrome	SLC33A1	603690
691	Hydrocephalus	L1CAM	308840
692	Hydrops	LARS2	604544
693	Hyperekplexia 1	GLRA1	138491
694	Hyperekplexia 2	GLRB	138492
695	Hyperekplexia 3	SLC6A5	604159
696	Hyperekplexia 4	ATAD1	614452
697	Hyperferritinemia-cataract syndrome/L-ferritin deficiency	FTL	134790
698	Hyperglycinemia	LIAS	607031
699	Hyperinsulinism-hyperammonemia syndrome	GLUD1	138130
700	Hyperlysinemia	AASS	605113
701	Hypermethioninemia due to adenosine kinase deficiency	ADK	102750
702	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AHCY	180960
703	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	SLC25A15	603861
704	Hyperostosis cranalis interna /Hypermanganesemia with dystonia 2	SLC39A14	608736
705	Hyperparathyroidism	CASR	601199
706	Hyperphenylalaninemia	DNAJC12	606060
707	Hyperphenylalaninemia	PAH	612349
708	Hyperphenylalaninemia	PTS	612719
709	Hyperphenylalaninemia	QDPR	612676
710	Hyperphosphatasia with impaired intellectual development syndrome 1	PIGV	610274
711	Hyperphosphatasia with impaired intellectual development syndrome 2	PIGO	614730
712	Hyperphosphatasia with impaired intellectual development syndrome 3	PGAP2	615187
713	Hyperphosphatasia with impaired intellectual development syndrome 4	PGAP3	611801
714	Hyperphosphatasia with impaired intellectual development syndrome 6	PIGY	610662
715	Hyperprolinemia, type II	ALDH4A1	606811
716	Hyperuricemia	SARS2	612804
717	Hypomagnesemia 1	TRPM6	607009
718	Hypomagnesemia 6	CNNM2	607803
719	Hypomagnesemia;Seizures;Intellectual disability	ATP1A1	182310
720	Hypomyelinating leukodystrophy	MAL	188860
721	Hypomyelinating neuropathy	CNTNAP1	602346
722	Hypomyelination and congenital cataract	FAM126A	610531
723	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	DARS1	603084
724	Hypophosphatasia	ALPL	171760
725	Hypotonia	EBF3	607407
726	Hypotonia	FAAH2	300654
727	Hypotonia	P4HTM	614584
728	Hypotonia	TBCK	616899
729	Hypotonia	UNC80	612636
I
730	IFAP syndrome with or without BRESHECK syndrome	MBTPS2	300294
731	Ichthyosis	ELOVL4	605512
732	Imagawa-Matsumoto syndrome	SUZ12	606245
733	Immunodeficiency 23	PGM3	172100
734	Immunodeficiency 47	ATP6AP1	300197
735	Immunodeficiency 78 with autoimmunity and developmental delay	TPP2	190470
736	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	DNMT3B	602900
737	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	ZBTB24	614064
738	Immunoskeletal dysplasia with neurodevelopmental abnormalities	EXTL3	605744
739	Impaired intellectual development	SOBP	613667
740	Impaired intellectual development and distinctive facial features with or without cardiac defects	MED13L	608771
741	Infantile cataract	GLS	138280
742	Infantile cerebellar-retinal degeneration	ACO2	100850
743	Infantile liver failure syndrome 1	LARS1	151350
744	Infantile neuroaxonal dystrophy 1/Neurodegeneration with brain iron accumulation 2B	PLA2G6	603604
745	Infantile spasms in Williams-Beuren syndrome/	MAGI2	606382
746	Infantile-onset encephalopathy	CCDC186	619249
747	Infantile-onset focal seizures followed by delayed psychomotor development	TNK2	606994
748	Infantile-onset multisystem neurologic	PTRH2	608625
749	Infantile-onset multisystem neurologic	YARS1	603623
750	Insensitivity to pain	NTRK1	191315
751	Insulin-like growth factor I	IGF1R	147370
752	Intellectual development	SRPX2	300642
753	Intellectual developmental disorder	ACSL4	300157
754	Intellectual developmental disorder	AFF2	300806
755	Intellectual developmental disorder	ALKBH8	613306
756	Intellectual developmental disorder	ASCC3	614217
757	Intellectual developmental disorder	ATP2B1	108731
758	Intellectual developmental disorder	AUTS2	607270
759	Intellectual developmental disorder	BRWD3	300553
760	Intellectual developmental disorder	C12orf4	616082
761	Intellectual developmental disorder	CACNG2	602911
762	Intellectual developmental disorder	CAMK2A	114078
763	Intellectual developmental disorder	CAMK2B	607707
764	Intellectual developmental disorder	CAMK2G	602123
765	Intellectual developmental disorder	CAPZA2	601571
766	Intellectual developmental disorder	CC2D1A	610055
767	Intellectual developmental disorder	CCDC82	619870
768	Intellectual developmental disorder	CDH15	114019
769	Intellectual developmental disorder	CEP104	616690
770	Intellectual developmental disorder	CERT1	604677
771	Intellectual developmental disorder	CHAMP1	616327
772	Intellectual developmental disorder	CIC	612082
773	Intellectual developmental disorder	CLIC2	300138
774	Intellectual developmental disorder	CLTC	118955
775	Intellectual developmental disorder	CNKSR2	300724
776	Intellectual developmental disorder	CRADD	603454
777	Intellectual developmental disorder	CRBN	609262
778	Intellectual developmental disorder	CSTF2	300907
779	Intellectual developmental disorder	CTCF	604167
780	Intellectual developmental disorder	CUL4B	300304
781	Intellectual developmental disorder	DDX3X	300160
782	Intellectual developmental disorder	DIP2B	611379
783	Intellectual developmental disorder	DLG3	300189
784	Intellectual developmental disorder	DPP6	126141
785	Intellectual developmental disorder	DYNC1H1	600112
786	Intellectual developmental disorder	DYRK1A	600855
787	Intellectual developmental disorder	ELP2	616054
788	Intellectual developmental disorder	EPB41L1	602879
789	Intellectual developmental disorder	FAM50A	300453
790	Intellectual developmental disorder	FBXO31	609102
791	Intellectual developmental disorder	FMN2	606373
792	Intellectual developmental disorder	FRMPD4	300838
793	Intellectual developmental disorder	FTSJ1	300499
794	Intellectual developmental disorder	GDI1	300104
795	Intellectual developmental disorder	GLRA2	305990
796	Intellectual developmental disorder	GNB1	139380
797	Intellectual developmental disorder	GRIA1	138248
798	Intellectual developmental disorder	GRIA3	305915
799	Intellectual developmental disorder	HERC2	605837
800	Intellectual developmental disorder	HIVEP2	143054
801	Intellectual developmental disorder	HNMT	605238
802	Intellectual developmental disorder	HUWE1	300697
803	Intellectual developmental disorder	IL1RAPL1	300206
804	Intellectual developmental disorder	IQSEC2	300522
805	Intellectual developmental disorder	KCNQ5	607357
806	Intellectual developmental disorder	KDM4B	609765
807	Intellectual developmental disorder	KDM5B	605393
808	Intellectual developmental disorder	KDM5C	314690
809	Intellectual developmental disorder	KIF4A	300521
810	Intellectual developmental disorder	KLHL15	300980
811	Intellectual developmental disorder	KMT2B	606834
812	Intellectual developmental disorder	KMT5B	610881
813	Intellectual developmental disorder	KPTN	615620
814	Intellectual developmental disorder	LINGO1	609791
815	Intellectual developmental disorder	LINS1	610350
816	Intellectual developmental disorder	LMAN2L	609552
817	Intellectual developmental disorder	MBD5	611472
818	Intellectual developmental disorder	MBOAT7	606048
819	Intellectual developmental disorder	MED13	603808
820	Intellectual developmental disorder	MED23	605042
821	Intellectual developmental disorder	METTL23	615262
822	Intellectual developmental disorder	METTL5	618628
823	Intellectual developmental disorder	MID2	300204
824	Intellectual developmental disorder	MYT1L	613084
825	Intellectual developmental disorder	NAA15	608000
826	Intellectual developmental disorder	NAA20	610833
827	Intellectual developmental disorder	NDST1	600853
828	Intellectual developmental disorder	NEXMIF	300524
829	Intellectual developmental disorder	NKAP	300766
830	Intellectual developmental disorder	NLGN4X	300427
831	Intellectual developmental disorder	NONO	300084
832	Intellectual developmental disorder	NR4A2	601828
833	Intellectual developmental disorder	NSUN2	610916
834	Intellectual developmental disorder	OGT	300255
835	Intellectual developmental disorder	OPHN1	300127
836	Intellectual developmental disorder	PAK3	300142
837	Intellectual developmental disorder	PHF8	300560
838	Intellectual developmental disorder	PIDD1	605247
839	Intellectual developmental disorder	PRSS12	606709
840	Intellectual developmental disorder	RAB39B	300774
841	Intellectual developmental disorder	RAC1	602048
842	Intellectual developmental disorder	RFX7	612660
843	Intellectual developmental disorder	RSRC1	613352
844	Intellectual developmental disorder	RUSC2	611053
845	Intellectual developmental disorder	SET	600960
846	Intellectual developmental disorder	SETBP1	611060
847	Intellectual developmental disorder	SETD2	612778
848	Intellectual developmental disorder	SETD5	615743
849	Intellectual developmental disorder	SLC6A17	610299
850	Intellectual developmental disorder	SLC9A6	300231
851	Intellectual developmental disorder	SLC9A7	300368
852	Intellectual developmental disorder	SLITRK2	300561
853	Intellectual developmental disorder	SMS	300105
854	Intellectual developmental disorder	SOX3	313430
855	Intellectual developmental disorder	SRRM2	606032
856	Intellectual developmental disorder	STAG1	604358
857	Intellectual developmental disorder	SYNGAP1	603384
858	Intellectual developmental disorder	SYP	313475
859	Intellectual developmental disorder	TAF13	600774
860	Intellectual developmental disorder	TAF2	604912
861	Intellectual developmental disorder	TAF4	601796
862	Intellectual developmental disorder	TBL1XR1	608628
863	Intellectual developmental disorder	TECR	610057
864	Intellectual developmental disorder	TFE3	314310
865	Intellectual developmental disorder	THOC2	300395
866	Intellectual developmental disorder	TLK2	608439
867	Intellectual developmental disorder	TNIK	610005
868	Intellectual developmental disorder	TRAPPC9	611966
869	Intellectual developmental disorder	TRIO	601893
870	Intellectual developmental disorder	TRIP12	604506
871	Intellectual developmental disorder	TRMT1	611669
872	Intellectual developmental disorder	TSPAN7	300096
873	Intellectual developmental disorder	TTI2	614426
874	Intellectual developmental disorder	TUSC3	601385
875	Intellectual developmental disorder	UBE2A	312180
876	Intellectual developmental disorder	UPF3B	300298
877	Intellectual developmental disorder	USP27X	300975
878	Intellectual developmental disorder	USP9X	300072
879	Intellectual developmental disorder	WASHC4	615748
880	Intellectual developmental disorder	WDR11	606417
881	Intellectual developmental disorder	ZBTB11	618181
882	Intellectual developmental disorder	ZBTB18	608433
883	Intellectual developmental disorder	ZC3H14	613279
884	Intellectual developmental disorder	ZDHHC9	300646
885	Intellectual developmental disorder	ZMYM3	300061
886	Intellectual developmental disorder	ZMYND11	608668
887	Intellectual developmental disorder	ZNF292	616213
888	Intellectual developmental disorder	ZNF711	314990
889	Intellectual developmental disorder 60 with seizures	AP2M1	601024
890	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia	CASK	300172
891	Intellectual developmental disorder and retinitis pigmentosa	SCAPER	611611
892	Intellectual developmental disorder with abnormal behavior	PUS7	616261
893	Intellectual developmental disorder with autism and dysmorphic facies	PDZD8	614235
894	Intellectual developmental disorder with autism and macrocephaly	CHD8	610528
895	Intellectual developmental disorder with autism and speech delay	TBR1	604616
896	Intellectual developmental disorder with autistic features and language delay	TANC2	615047
897	Intellectual developmental disorder with behavioral abnormalities	RFX3	601337
898	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	PHF21A	608325
899	Intellectual developmental disorder with cardiac arrhythmia	GNB5	604447
900	Intellectual developmental disorder with cardiac defects and dysmorphic facies	TMEM94	618163
901	Intellectual developmental disorder with dysmorphic facies	BCL11B	606558
902	Intellectual developmental disorder with dysmorphic facies	OTUD6B	612021
903	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	FBXO11	607871
904	Intellectual developmental disorder with dysmorphic facies and ptosis	BRPF1	602410
905	Intellectual developmental disorder with epilepsy	ALG14	612866
906	Intellectual developmental disorder with hypotonia	TNPO2	603002
907	Intellectual developmental disorder with hypotonia and behavioral abnormalities	CDK8	603184
908	Intellectual developmental disorder with impaired language and dysmorphic facies	DDX6	600326
909	Intellectual developmental disorder with language impairment with or without autistic features	FOXP1	605515
910	Intellectual developmental disorder with macrocephaly	PAK1	602590
911	Intellectual developmental disorder with nasal speech	CNOT2	604909
912	Intellectual developmental disorder with neuropsychiatric features	SLC45A1	605763
913	Intellectual developmental disorder with ocular anomalies and distinctive facial features	MTSS2	616951
914	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	RORA	600825
915	Intellectual developmental disorder with or without peripheral neuropathy	NUDT2	602852
916	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	ABCA2	600047
917	Intellectual developmental disorder with seizures and language delay	SETD1B	611055
918	Intellectual developmental disorder with short stature	FBXL3	605653
919	Intellectual developmental disorder with short stature and behavioral abnormalities	IQSEC1	610166
920	Intellectual developmental disorder with short stature and variable skeletal anomalies	WIPI2	609225
921	Intellectual developmental disorder with speech delay	CNOT3	604910
922	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	NEMF	608378
923	Intellectual disability	ACTL6A	604958
924	Intellectual disability	CDK16	311550
925	Intellectual disability	CTBP1	602618
926	Intellectual disability	CTR9	609366
927	Intellectual disability	DPYSL2	602463
928	Intellectual disability	HIRA	600237
929	Intellectual disability	INO80	610169
930	Intellectual disability	KIRREL3	607761
931	Intellectual disability	KLF8	300286
932	Intellectual disability	KLHL20	617679
933	Intellectual disability	MXRA8	617293
934	Intellectual disability	POU3F2	600494
935	Intellectual disability	SIN3B	607777
936	Intellectual disability and myopathy syndrome	ABCC9	601439
937	Intellectual disability syndrome	CLIP1	179838
938	Intellectual disability with facial anomalies	ZFHX4	606940
939	Intellectual disability with parkinsonism	PTRHD1	617342
940	Intellectual disability/developmental delay and autism spectrum disorder	SYNCRIP	616686
941	Intellectual disability; Seizures; KINSSHIP syndrome	AFF3	601464
942	Isovaleric acidemia	IVD	607036
J
943	Jaberi-Elahi syndrome	GTPBP2	607434
944	Jansen-de Vries syndrome	PPM1D	605100
945	Jawad syndrome/Seckel syndrome 2	RBBP8	604124
946	Johanson-Blizzard syndrome	UBR1	605981
947	Joubert syndrome 1/Mental retardation	INPP5E	613037
948	Joubert syndrome 10/Orofaciodigital syndrome I/Simpson-Golabi-Behmel syndrome	OFD1	300170
949	Joubert syndrome 14	TMEM237	614423
950	Joubert syndrome 15	CEP41	610523
951	Joubert syndrome 17/Orofaciodigital syndrome VI	CPLANE1	614571
952	Joubert syndrome 18/Orofaciodigital syndrome IV	TCTN3	613847
953	Joubert syndrome 2/Meckel syndrome 2	TMEM216	613277
954	Joubert syndrome 20/Meckel syndrome 11	TMEM231	614949
955	Joubert syndrome 21	CSPP1	611654
956	Joubert syndrome 22	PDE6D	602676
957	Joubert syndrome 23/Short-rib thoracic dysplasia 14 with polydactyly	KIAA0586	610178
958	Joubert syndrome 24	TCTN2	613846
959	Joubert syndrome 27	B9D1	614144
960	Joubert syndrome 3	AHI1	608894
961	Joubert syndrome 30	ARMC9	617612
962	Joubert syndrome 31	CEP120	613446
963	Joubert syndrome 32	SUFU	607035
964	Joubert syndrome 33	PIBF1	607532
965	Joubert syndrome 34	B9D2	611951
966	Joubert syndrome 4	NPHP1	607100
967	Joubert syndrome 5	CEP290	610142
968	Joubert syndrome 8	ARL13B	608922
969	Joubert syndrome 9 / Meckel syndrome 6	CC2D2A	612013
970	Juvenile myelomonocytic leukemia / Noonan syndrome-like disorder	CBL	165360
K
971	KBG syndrome	ANKRD11	611192
972	Kabuki syndrome 2	KDM6A	300128
973	Kanzaki disease	NAGA	104170
974	Kaufman oculocerebrofacial syndrome	UBE3B	608047
975	Kaya-Barakat-Masson syndrome	YIF1B	619109
976	Keipert syndrome	GPC4	300168
977	Keppen-Lubinsky syndrome	KCNJ6	600877
978	Keratitis-ichthyosis-deafness syndrome	AP1B1	600157
979	Khan-Khan-Katsanis syndrome	NCAPG2	608532
980	Kleefstra syndrome 1	EHMT1	607001
981	Kleefstra syndrome 2	KMT2C	606833
982	Knobloch syndrome	COL18A1	120328
983	Kohlschutter-Tonz syndrome	ROGDI	614574
984	Koolen-De Vries syndrome	KANSL1	612452
985	Krabbe disease	GALC	606890
986	Kufor-Rakeb syndrome/Spastic paraplegia 78	ATP13A2	610513
987	Kury-Isidor syndrome	BAP1	603089
L
988	L-2-hydroxyglutaric aciduria	L2HGDH	609584
989	LEOPARD syndrome 1/Noonan syndrome 1	PTPN11	176876
990	LIG4 syndrome	LIG4	601837
991	LRP1-related syndrome	LRP1	107770
992	Lacticacidemia due to PDX1 deficiency	PDHX	608769
993	Lamb-Shaffer syndrome	SOX5	604975
994	Lathosterolosis	SC5D	602286
995	Laurence-Moon syndrome /Boucher-Neuhauser syndrome/	PNPLA6	603197
996	Legius syndrome	SPRED1	609291
997	Lennox-Gastaut syndrome	SHANK1	604999
998	Lenz-Majewski hyperostotic dwarfism	PTDSS1	612792
999	Lesch-Nyhan syndrome	HPRT1	308000
1000	Lessel-Kreienkamp syndrome	AGO2	606229
1001	Leukemia	NF1	613113
1002	Leukodystrophy	ACER3	617036
1003	Leukodystrophy	AIMP1	603605
1004	Leukodystrophy	AIMP2	600859
1005	Leukodystrophy	ATP11A	605868
1006	Leukodystrophy	BLOC1S1	601444
1007	Leukodystrophy	DEGS1	615843
1008	Leukodystrophy	EPRS1	138295
1009	Leukodystrophy	HSPD1	118190
1010	Leukodystrophy	LMNB1	150340
1011	Leukodystrophy	POLR1C	610060
1012	Leukodystrophy	POLR3A	614258
1013	Leukodystrophy	POLR3B	614366
1014	Leukodystrophy	PYCR2	616406
1015	Leukodystrophy	RARS1	107820
1016	Leukodystrophy	RNF220	616136
1017	Leukodystrophy	SLC35B2	610788
1018	Leukodystrophy	TMEM106B	613413
1019	Leukodystrophy	UFM1	610553
1020	Leukodystrophy and acquired microcephaly with or without dystonia	PLEKHG2	611893
1021	Leukoencephalopathy	EIF2AK2	176871
1022	Leukoencephalopathy	KARS1	601421
1023	Leukoencephalopathy	RNASET2	612944
1024	Leukoencephalopathy	SNORD118	616663
1025	Leukoencephalopathy with ataxia / Hyperaldosteronism	CLCN2	600570
1026	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	DARS2	610956
1027	Leukoencephalopathy with vanishing white matter/Ovarioleukodystrophy	EIF2B1	606686
1028	Leukoencephalopathy with vanishing white matter/Ovarioleukodystrophy	EIF2B2	606454
1029	Leukoencephalopathy with vanishing white matter/Ovarioleukodystrophy	EIF2B3	606273
1030	Leukoencephalopathy with vanishing white matter/Ovarioleukodystrophy	EIF2B4	606687
1031	Leukoencephalopathy with vanishing white matter/Ovarioleukodystrophy	EIF2B5	603945
1032	Li-Campeau syndrome	UBR7	613816
1033	Li-Ghorgani-Weisz-Hubshman syndrome	KAT8	609912
1034	Liberfarb syndrome	PISD	612770
1035	Linear skin defects with multiple congenital anomalies 1	HCCS	300056
1036	Linear skin defects with multiple congenital anomalies 2	COX7B	300885
1037	Lipoyltransferase 1 deficiency	LIPT1	610284
1038	Lissencephaly	DCX	300121
1039	Lissencephaly 1/Subcortical laminar heterotopia	PAFAH1B1	601545
1040	Lissencephaly 10	CEP85L	618865
1041	Lissencephaly 3	TUBA1A	602529
1042	Lissencephaly 4 (with microcephaly)	NDE1	609449
1043	Lissencephaly 5	LAMB1	150240
1044	Lissencephaly 6	KATNB1	602703
1045	Lissencephaly 8	TMTC3	617218
1046	Lissencephaly 9 with complex brainstem malformation	MACF1	608271
1047	Lowry-Wood syndrome/Microcephalic osteodysplastic primordial dwarfism	RNU4ATAC	601428
1048	Lujan-Fryns syndrome	MED12	300188
1049	Luo-Schoch-Yamamoto syndrome	RNF2	608985
M
1050	MACROCEPHALY	RNF135	611358
1051	MEDNIK syndrome	AP1S1	603531
1052	MEHMO syndrome	EIF2S3	300161
1053	MEND syndrome	EBP	300205
1054	MENTAL RETARDATION	ZNF41	314995
1055	MIRAGE syndrome/	SAMD9	610456
1056	Macrocephaly	HERC1	605109
1057	Macrocephaly	NFIB	600728
1058	Macrocephaly	ZBTB7A	605878
1059	Macrocephaly/megalencephaly syndrome	TBC1D7	612655
1060	Macrothrombocytopenia	TUBA8	605742
1061	Malan syndrome/Marshall-Smith syndrome	NFIX	164005
1062	Malformation of cortical development	LINGO4	609794
1063	Malonyl-CoA decarboxylase deficiency	MLYCD	606761
1064	Mandibulofacial dysostosis	EFTUD2	603892
1065	Mannosidosis	MAN2B1	609458
1066	Mannosidosis	MANBA	609489
1067	Maple syrup urine disease	BCKDHA	608348
1068	Maple syrup urine disease	BCKDHB	248611
1069	Maple syrup urine disease	DBT	248610
1070	Marbach-Schaaf neurodevelopmental syndrome	PRKAR1B	176911
1071	Marinesco-Sjogren syndrome	SIL1	608005
1072	Martsolf syndrome 1/Warburg micro syndrome 2	RAB3GAP2	609275
1073	Martsolf syndrome 2/Warburg micro syndrome 1	RAB3GAP1	602536
1074	McLeod syndrome	XK	314850
1075	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	MAST1	612256
1076	Megalencephalic leukoencephalopathy with subcortical cysts 1	MLC1	605908
1077	Megalencephalic leukoencephalopathy with subcortical cysts 2A	HEPACAM	611642
1078	Megalencephaly-capillary malformation-polymicrogyria syndrome	PIK3CA	171834
1079	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	PIK3R2	603157
1080	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	AKT3	611223
1081	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	CCND2	123833
1082	Megaloblastic anemia due to dihydrofolate reductase deficiency	DHFR	126060
1083	Meier-Gorlin syndrome 6	GMNN	602842
1084	Menke-Hennekam syndrome 1	CREBBP	600140
1085	Menke-Hennekam syndrome 2/Rubinstein-Taybi syndrome 2	EP300	602700
1086	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy	ATP7A	300011
1087	Mental retardation	AGTR2	300034
1088	Mental retardation	ANK3	600465
1089	Mental retardation	ASH1L	607999
1090	Mental retardation	SHROOM4	300579
1091	Mental retardation dysmorphism syndrome	KCNK9	605874
1092	Metabolic encephalomyopathic crises	TANGO2	616830
1093	Metachromatic leukodystrophy	ARSA	607574
1094	Methemoglobinemia	CYB5R3	613213
1095	Methionine adenosyltransferase deficiency	MAT1A	610550
1096	Methylmalonic aciduria	MMAA	607481
1097	Methylmalonic aciduria	MMAB	607568
1098	Methylmalonic aciduria	MMUT	609058
1099	Methylmalonic aciduria and homocysteinemia	HCFC1	300019
1100	Methylmalonic aciduria and homocystinuria	ABCD4	603214
1101	Methylmalonic aciduria and homocystinuria	LMBRD1	612625
1102	Methylmalonic aciduria and homocystinuria	MMACHC	609831
1103	Mevalonic aciduria	MVK	251170
1104	Microcephalic osteodysplastic primordial dwarfism	PCNT	605925
1105	Microcephaly	CARS1	123859
1106	Microcephaly	CTU2	617057
1107	Microcephaly	IER3IP1	609382
1108	Microcephaly	MED17	603810
1109	Microcephaly	PPP1R15B	613257
1110	Microcephaly	QARS1	603727
1111	Microcephaly	RTTN	610436
1112	Microcephaly	SLC25A19	606521
1113	Microcephaly	TRMT10A	616013
1114	Microcephaly	YIPF5	611483
1115	Microcephaly 1	MCPH1	607117
1116	Microcephaly 10	ZNF335	610827
1117	Microcephaly 12	CDK6	603368
1118	Microcephaly 17	CIT	605629
1119	Microcephaly 18	WDFY3	617485
1120	Microcephaly 2	WDR62	613583
1121	Microcephaly 20	KIF14	611279
1122	Microcephaly 21	NCAPD2	615638
1123	Microcephaly 29	PDCD6IP	608074
1124	Microcephaly 3	CDK5RAP2	608201
1125	Microcephaly 30	BUB1	602452
1126	Microcephaly 4	KNL1	609173
1127	Microcephaly 5	ASPM	605481
1128	Microcephaly 7	STIL	181590
1129	Microcephaly 8	CEP135	611423
1130	Microcephaly 9	CEP152	613529
1131	Microcephaly and chorioretinopathy	PLK4	605031
1132	Microcephaly and chorioretinopathy	TUBGCP4	609610
1133	Microcephaly and chorioretinopathy	TUBGCP6	610053
1134	Microcephaly with or without chorioretinopathy	KIF11	148760
1135	Microcephaly-capillary malformation syndrome	STAMBP	606247
1136	Microcephaly-micromelia syndrome/Microcephaly	DONSON	611428
1137	Microphthalmia	BCOR	300485
1138	Microphthalmia	BMP4	112262
1139	Microphthalmia	NAA10	300013
1140	Microphthalmia	OTX2	600037
1141	Microphthalmia	RAX	601881
1142	Microphthalmia	SOX2	184429
1143	Microphthalmia	STRA6	610745
1144	Microphthalmia	TENM3	610083
1145	Microphthalmia with limb anomalies	SMOC1	608488
1146	Microphthalmia/coloboma and skeletal dysplasia syndrome	MAB21L2	604357
1147	Mild developmental delay	SMARCA5	603375
1148	Mild developmental delay	SMARCD1	601735
1149	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	FBXL4	605654
1150	Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)	POLG2	604983
1151	Mitochondrial DNA depletion syndrome 20 (MNGIE type)	LIG3	600940
1152	Mitochondrial DNA depletion syndrome 4A (Alpers type)	POLG	174763
1153	Mitochondrial DNA depletion syndrome 5	SUCLA2	603921
1154	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	MPV17	137960
1155	Mitochondrial DNA depletion syndrome 8A	RRM2B	604712
1156	Mitochondrial DNA depletion syndrome 9	SUCLG1	611224
1157	Mitochondrial complex I deficiency	ACAD9	611103
1158	Mitochondrial complex I deficiency	FOXRED1	613622
1159	Mitochondrial complex I deficiency	NDUFA1	300078
1160	Mitochondrial complex I deficiency	NDUFA10	603835
1161	Mitochondrial complex I deficiency	NDUFA11	612638
1162	Mitochondrial complex I deficiency	NDUFA2	602137
1163	Mitochondrial complex I deficiency	NDUFAF1	606934
1164	Mitochondrial complex I deficiency	NDUFAF2	609653
1165	Mitochondrial complex I deficiency	NDUFAF3	612911
1166	Mitochondrial complex I deficiency	NDUFAF4	611776
1167	Mitochondrial complex I deficiency	NDUFAF5	612360
1168	Mitochondrial complex I deficiency	NDUFS1	157655
1169	Mitochondrial complex I deficiency	NDUFS2	602985
1170	Mitochondrial complex I deficiency	NDUFS4	602694
1171	Mitochondrial complex I deficiency	NDUFS6	603848
1172	Mitochondrial complex I deficiency	NDUFS7	601825
1173	Mitochondrial complex I deficiency	NDUFS8	602141
1174	Mitochondrial complex I deficiency	NDUFV1	161015
1175	Mitochondrial complex I deficiency	NUBPL	613621
1176	Mitochondrial complex II deficiency	SDHA	600857
1177	Mitochondrial complex II deficiency	SDHAF1	612848
1178	Mitochondrial complex III deficiency	CYC1	123980
1179	Mitochondrial complex III deficiency	LYRM7	615831
1180	Mitochondrial complex III deficiency	TTC19	613814
1181	Mitochondrial complex IV deficiency	COX10	602125
1182	Mitochondrial complex IV deficiency	COX15	603646
1183	Mitochondrial complex IV deficiency	LRPPRC	607544
1184	Mitochondrial complex IV deficiency	PET100	614770
1185	Mitochondrial complex IV deficiency	SCO1	603644
1186	Mitochondrial complex IV deficiency	SCO2	604272
1187	Mitochondrial complex IV deficiency	SURF1	185620
1188	Mitochondrial complex V (ATP synthase) deficiency	ATP5PO	600828
1189	Mitochondrial complex V (ATP synthase) deficiency	TMEM70	612418
1190	Mitochondrial pyruvate carrier deficiency	MPC1	614738
1191	Mohr-Tranebjaerg syndrome	TIMM8A	300356
1192	Molybdenum cofactor deficiency A	MOCS1	603707
1193	Molybdenum cofactor deficiency B	MOCS2	603708
1194	Molybdenum cofactor deficiency C	GPHN	603930
1195	Mosaic variegated aneuploidy syndrome 1	BUB1B	602860
1196	Mosaic variegated aneuploidy syndrome 3	TRIP13	604507
1197	Motor & language delay	MRTFB	609463
1198	Mowat-Wilson syndrome	ZEB2	605802
1199	Mucolipidosis II alpha/beta/Mucolipidosis III alpha/beta	GNPTAB	607840
1200	Mucolipidosis IV	MCOLN1	605248
1201	Mucopolysaccharidosis II	IDS	300823
1202	Mucopolysaccharidosis Ih/Mucopolysaccharidosis Ih/s/Mucopolysaccharidosis Is	IDUA	252800
1203	Mucopolysaccharidosis VII	GUSB	611499
1204	Mucopolysaccharidosis type IIIA (Sanfilippo A)	SGSH	605270
1205	Mucopolysaccharidosis type IIIB (Sanfilippo B)	NAGLU	609701
1206	Mucopolysaccharidosis type IIIC (Sanfilippo C)	HGSNAT	610453
1207	Mucopolysaccharidosis type IIID	GNS	607664
1208	Muenke syndrome/ Achondroplasia/CATSHL syndrome	FGFR3	134934
1209	Multinucleated neurons	CEP55	610000
1210	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	606097
1211	Multiple congenital anomalies-hypotonia-seizures syndrome 2	PIGA	311770
1212	Multiple congenital anomalies-hypotonia-seizures syndrome 4	PIGQ	605754
1213	Multiple congenital anomalies-neurodevelopmental syndrome	OTUD5	300713
1214	Multiple mitochondrial dysfunctions syndrome 1	NFU1	608100
1215	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	BOLA3	613183
1216	Multiple mitochondrial dysfunctions syndrome 3	IBA57	615316
1217	Multiple mitochondrial dysfunctions syndrome 4	ISCA2	615317
1218	Multiple mitochondrial dysfunctions syndrome 6	PMPCB	603131
1219	Multiple sulfatase deficiency	SUMF1	607939
1220	Multiple-malformation syndrome with retinal dystrophy	CDK9	603251
1221	Muscular dystrophy	CHKB	612395
1222	Muscular dystrophy	INPP5K	607875
1223	Muscular dystrophy	ITGA7	600536
1224	Muscular dystrophy	LAMA2	156225
1225	Muscular dystrophy	TRAPPC11	614138
1226	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	B3GALNT2	610194
1227	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	CRPPA	614631
1228	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	DAG1	128239
1229	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	FKRP	606596
1230	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	GMPPB	615320
1231	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	LARGE1	603590
1232	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	POMGNT1	606822
1233	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	POMGNT2	614828
1234	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	POMK	615247
1235	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	POMT1	607423
1236	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	POMT2	607439
1237	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)	RXYLT1	605862
1238	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development)	DPM3	605951
1239	Myasthenic syndrome	SNAP25	600322
1240	Myhre syndrome	SMAD4	600993
1241	Myoclonic-atonic epilepsy	SLC6A1	137165
1242	Myoclonus	KIF5A	602821
1243	Myoclonus	SCN8A	600702
1244	Myopathy	GFER	600924
1245	Myopathy	PUS1	608109
1246	Myopathy with extrapyramidal signs	MICU1	605084
N
1247	N-acetylglutamate synthase deficiency	NAGS	608300
1248	NESCAV syndrome/Neuropathy	KIF1A	601255
1249	Nabais Sa-de Vries syndrome	SPOP	602650
1250	Nance-Horan syndrome	NHS	300457
1251	Neu-Laxova syndrome 1/Phosphoglycerate dehydrogenase deficiency	PHGDH	606879
1252	Neuro-ocular DAGLA-related syndrome	DAGLA	614015
1253	Neurocardiofaciodigital syndrome	MAPKAPK5	606723
1254	Neurocutaneous melanosis	NRAS	164790
1255	Neurodegeneration	ADPRS	610624
1256	Neurodegeneration	AGTPBP1	606830
1257	Neurodegeneration	CLCN6	602726
1258	Neurodegeneration	DTYMK	188345
1259	Neurodegeneration	IREB2	147582
1260	Neurodegeneration	LETM1	604407
1261	Neurodegeneration	UBTF	600673
1262	Neurodegeneration and seizures due to copper transport defect	SLC31A1	603085
1263	Neurodegeneration due to cerebral folate transport deficiency	FOLR1	136430
1264	Neurodegeneration with brain iron accumulation 5	WDR45	300526
1265	Neurodegeneration with brain iron accumulation 6/Pontocerebellar hypoplasia	COASY	609855
1266	Neurodegeneration with developmental delay	MED11	612383
1267	Neurodevelopmental	FBXW11	605651
1268	Neurodevelopmental abnormalities	GABBR1	603540
1269	Neurodevelopmental anomalies	BDP1	607012
1270	Neurodevelopmental delay & epilepsy	RHEB	601293
1271	Neurodevelopmental disorder	ATG4D	611340
1272	Neurodevelopmental disorder	DHX9	603115
1273	Neurodevelopmental disorder	DSCAM	602523
1274	Neurodevelopmental disorder	HNRNPD	601324
1275	Neurodevelopmental disorder	KDM2B	609078
1276	Neurodevelopmental disorder	NCKAP1	604891
1277	Neurodevelopmental disorder	PAN2	617447
1278	Neurodevelopmental disorder	PIP5K1C	606102
1279	Neurodevelopmental disorder	POLR2A	180660
1280	Neurodevelopmental disorder	STX1A	186590
1281	Neurodevelopmental disorder	TCF7L2	602228
1282	Neurodevelopmental disorder	TNR	601995
1283	Neurodevelopmental disorder	VAMP2	185881
1284	Neurodevelopmental disorder	VARS1	192150
1285	Neurodevelopmental disorder	WARS2	604733
1286	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	PTPN23	606584
1287	Neurodevelopmental disorder with absent language and variable seizures	WASF1	605035
1288	Neurodevelopmental disorder with absent speech	FEM1C	608767
1289	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	UBE3C	614454
1290	Neurodevelopmental disorder with ataxia	SVBP	617853
1291	Neurodevelopmental disorder with ataxic gait	RAB11B	604198
1292	Neurodevelopmental disorder with behavioral abnormalities	NTNG2	618689
1293	Neurodevelopmental disorder with brain abnormalities	ADAT3	615302
1294	Neurodevelopmental disorder with brain anomalies	PIGU	608528
1295	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	DHX37	617362
1296	Neurodevelopmental disorder with cardiac malformations	ZMYND8	615713
1297	Neurodevelopmental disorder with cardiomyopathy	SHMT2	138450
1298	Neurodevelopmental disorder with cataracts	INTS1	611345
1299	Neurodevelopmental disorder with central and peripheral motor dysfunction	NFASC	609145
1300	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	HDAC4	605314
1301	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GEMIN5	607005
1302	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	BRAT1	614506
1303	Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	INTS8	611351
1304	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	TTC5	619014
1305	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	HNRNPH1	601035
1306	Neurodevelopmental disorder with dysmorphic facies	KAT5	601409
1307	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	EXOC2	615329
1308	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF	601819
1309	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	ZMIZ1	607159
1310	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	HNRNPR	607201
1311	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	SUPT16H	605012
1312	Neurodevelopmental disorder with dysmorphic facies and variable seizures	EMC10	614545
1313	Neurodevelopmental disorder with dysmorphic features	PGAP1	611655
1314	Neurodevelopmental disorder with epilepsy	NACC1	610672
1315	Neurodevelopmental disorder with epilepsy	TRAPPC4	610971
1316	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	LNPK	610236
1317	Neurodevelopmental disorder with eye movement abnormalities and ataxia	FRMD5	616309
1318	Neurodevelopmental disorder with facial dysmorphism	TMEM147	613585
1319	Neurodevelopmental disorder with hearing loss	SPATA5	613940
1320	Neurodevelopmental disorder with hearing loss and spasticity	SPATA5L1	619578
1321	Neurodevelopmental disorder with hearing loss and spasticity	SPTBN1	182790
1322	Neurodevelopmental disorder with hyperkinetic movements	CAMK4	114080
1323	Neurodevelopmental disorder with hypotonia	ADARB1	601218
1324	Neurodevelopmental disorder with hypotonia	DEAF1	602635
1325	Neurodevelopmental disorder with hypotonia	GNAI1	139310
1326	Neurodevelopmental disorder with hypotonia	HECW2	617245
1327	Neurodevelopmental disorder with hypotonia	MEF2C	600662
1328	Neurodevelopmental disorder with hypotonia	PGM2L1	611610
1329	Neurodevelopmental disorder with hypotonia	PPP1R21	618159
1330	Neurodevelopmental disorder with hypotonia	SNIP1	608241
1331	Neurodevelopmental disorder with hypotonia	SPTBN4	606214
1332	Neurodevelopmental disorder with hypotonia	TRPM3	608961
1333	Neurodevelopmental disorder with hypotonia and brain abnormalities	CLCN3	600580
1334	Neurodevelopmental disorder with hypotonia and cerebellar atrophy	PIGK	605087
1335	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GNB2	139390
1336	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	UBE4A	603753
1337	Neurodevelopmental disorder with hypotonia and speech delay	EIF4A2	601102
1338	Neurodevelopmental disorder with impaired intellectual development	DOCK3	603123
1339	Neurodevelopmental disorder with impaired language	UBAP2L	616472
1340	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GRIK2	138244
1341	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	ZNF142	604083
1342	Neurodevelopmental disorder with infantile epileptic spasms	NCDN	608458
1343	Neurodevelopmental disorder with language delay and behavioral abnormalities	AGO1	606228
1344	Neurodevelopmental disorder with language delay and seizures	TIAM1	600687
1345	Neurodevelopmental disorder with language impairment	CAPRIN1	601178
1346	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GRIA2	138247
1347	Neurodevelopmental disorder with microcephaly	CHKA	118491
1348	Neurodevelopmental disorder with microcephaly	CPSF3	606029
1349	Neurodevelopmental disorder with microcephaly	DOHH	611262
1350	Neurodevelopmental disorder with microcephaly	GEMIN4	606969
1351	Neurodevelopmental disorder with microcephaly	MTHFS	604197
1352	Neurodevelopmental disorder with microcephaly	NARS1	108410
1353	Neurodevelopmental disorder with microcephaly	PRUNE1	617413
1354	Neurodevelopmental disorder with microcephaly	SARS1	607529
1355	Neurodevelopmental disorder with microcephaly	SMPD4	610457
1356	Neurodevelopmental disorder with microcephaly	TMX2	616715
1357	Neurodevelopmental disorder with microcephaly	TRAPPC10	602103
1358	Neurodevelopmental disorder with microcephaly	TRAPPC6B	610397
1359	Neurodevelopmental disorder with microcephaly and gray sclerae	PUS3	616283
1360	Neurodevelopmental disorder with microcephaly and movement abnormalities	TTI1	614425
1361	Neurodevelopmental disorder with microcephaly and spastic paraplegia	GPT2	138210
1362	Neurodevelopmental disorder with motor and language delay	INTS11	611354
1363	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	TMEM222	619469
1364	Neurodevelopmental disorder with movement abnormalities	ZSWIM6	615951
1365	Neurodevelopmental disorder with neonatal respiratory insufficiency	PURA	600473
1366	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	NRCAM	601581
1367	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	DLL1	606582
1368	Neurodevelopmental disorder with or without anomalies of the brain	RERE	605226
1369	Neurodevelopmental disorder with or without autism or seizures	CUL3	603136
1370	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	NOVA2	601991
1371	Neurodevelopmental disorder with or without early-onset generalized epilepsy	NBEA	604889
1372	Neurodevelopmental disorder with or without hyperkinetic movements and seizures	GRIN1	138249
1373	Neurodevelopmental disorder with or without hypotonia	PIGG	616918
1374	Neurodevelopmental disorder with or without seizures and gait abnormalities	GRIA4	138246
1375	Neurodevelopmental disorder with or without variable brain abnormalities	MAPK8IP1	604641
1376	Neurodevelopmental disorder with or without variable brain abnormalities	MAPK8IP3	605431
1377	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	KCNN2	605879
1378	Neurodevelopmental disorder with poor growth	ZNF668	617103
1379	Neurodevelopmental disorder with poor growth and behavioral abnormalities	ATP9A	609126
1380	Neurodevelopmental disorder with poor growth and skeletal anomalies	PCDHGC4	606305
1381	Neurodevelopmental disorder with progressive microcephaly	MFSD2A	614397
1382	Neurodevelopmental disorder with progressive microcephaly	PLAA	603873
1383	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	HPDL	618994
1384	Neurodevelopmental disorder with regression	IRF2BPL	611720
1385	Neurodevelopmental disorder with seizures	GRM7	604101
1386	Neurodevelopmental disorder with seizures	HECTD4	620209
1387	Neurodevelopmental disorder with seizures	PPFIBP1	603141
1388	Neurodevelopmental disorder with seizures and brain atrophy	EXOC7	608163
1389	Neurodevelopmental disorder with seizures and gingival overgrowth	TBC1D2B	619152
1390	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	CACNA1B	601012
1391	Neurodevelopmental disorder with seizures and speech and walking impairment	DHPS	600944
1392	Neurodevelopmental disorder with severe motor impairment	TAF8	609514
1393	Neurodevelopmental disorder with severe motor impairment and absent language	DHX30	616423
1394	Neurodevelopmental disorder with short stature	DPH5	611075
1395	Neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB1	116806
1396	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities	WDR45B	609226
1397	Neurodevelopmental disorder with spasticity	MED27	605044
1398	Neurodevelopmental disorder with spasticity	NSRP1	616173
1399	Neurodevelopmental disorder with spasticity and poor growth	UFC1	610554
1400	Neurodevelopmental disorder with speech delay and variable ocular anomalies	THUMPD1	616662
1401	Neurodevelopmental disorder with speech impairment and with or without seizures	CACNA1I	608230
1402	Neurodevelopmental disorder with speech/language delays & congenital abnormalities	FOXP4	608924
1403	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	RAC3	602050
1404	Neurodevelopmental disorder/Schizophrenia	DLG2	603583
1405	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	ZMYM2	602221
1406	Neurofacioskeletal syndrome with or without renal agenesis	HS2ST1	604844
1407	Neurologic syndrome characterized by pediatric epilepsy and juvenile Parkinson	SCAMP5	613766
1408	Neurological disease	TAF1C	604905
1409	Neuromuscular disease and ocular or auditory anomalies with or without seizures	DHX16	603405
1410	Neuronopathy	VRK1	602168
1411	Neuroocular syndrome	PRR12	616633
1412	Neurooculocardiogenitourinary syndrome	WDR37	618586
1413	Neuropathy	TECPR2	615000
1414	Neutropenia	HAX1	605998
1415	Neutropenia	SRP54	604857
1416	New neurodevelopmental	UNC79	616884
1417	Niemann-Pick disease	NPC1	607623
1418	Niemann-Pick disease	SMPD1	607608
1419	Niemann-pick disease	NPC2	601015
1420	Nijmegen breakage syndrome	NBN	602667
1421	Nizon-Isidor syndrome	MED12L	611318
1422	Nocturnal frontal lobe epilepsy	CRH	122560
1423	Nonspecific X-linked mental retardation	ARHGEF6	300267
1424	Noonan syndrome 10/Noonan syndrome 2	LZTR1	600574
1425	Noonan syndrome 13	MAPK1	176948
1426	Noonan syndrome 14	SPRED2	609292
1427	Noonan syndrome 8	RIT1	609591
1428	Noonan syndrome 9	SOS2	601247
1429	Noonan syndrome-like disorder with loose anagen hair 2	PPP1CB	600590
1430	Noonan syndrome-like with loose anagen hair 1	SHOC2	602775
1431	Norrie disease	NDP	300658
O
1432	O'Donnell-Luria-Rodan syndrome	KMT2E	608444
1433	Oculogastrointestinal neurodevelopmental syndrome	CAPN15	603267
1434	Oculoskeletodental syndrome	PIK3C2A	603601
1435	Okur-Chung neurodevelopmental syndrome	CSNK2A1	115440
1436	Opitz GBBB syndrome	MID1	300552
1437	Optic atrophy 10 with or without ataxia	RTN4IP1	610502
1438	Ornithine transcarbamylase deficiency	OTC	300461
1439	Orofaciodigital syndrome V	DDX59	615464
1440	Orofaciodigital syndrome XIV	C2CD3	615944
1441	Orotic aciduria	UMPS	613891
1442	Osteogenesis imperfecta	WNT1	164820
1443	Osteopathia striata with cranial sclerosis	AMER1	300647
1444	Osteopetrosis	CA2	611492
1445	Osteoporosis	COPB2	606990
1446	Otofaciocervical syndrome 2	PAX1	167411
P
1447	PCWH syndrome/Waardenburg syndrome	SOX10	602229
1448	PEHO syndrome-like	CCDC88A	609736
1449	PERCHING syndrome	KLHL7	611119
1450	PMID: 32590954	BLTP1	611565
1451	PMID: 38168415	PIK3R3	606076
1452	Pachygyria	TUBGCP2	617817
1453	Pancreatic agenesis and congenital heart defects	GATA6	601656
1454	Pancreatic and cerebellar agenesis	PTF1A	607194
1455	Parenti-Mignot neurodevelopmental syndrome	CHD5	610771
1456	Parkinson disease	TBP	600075
1457	Parkinson disease 19a	DNAJC6	608375
1458	Parkinson disease 24	PSAP	176801
1459	Parkinson disease 25	PTPA	600756
1460	Parkinsonism with spasticity	ATP6AP2	300556
1461	Parkinsonism-dystonia	SLC6A3	126455
1462	Paroxysmal nocturnal hemoglobinuria 2 /Multiple congenital anomalies-hypotonia-seizures syndrome 3	PIGT	610272
1463	Paroxysmal nonkinesigenic dyskinesia	KCNMA1	600150
1464	Pelizaeus-Merzbacher disease/Spastic paraplegia 2	PLP1	300401
1465	Peripheral motor neuropathy	SLC5A6	604024
1466	Peripheral neuropathy	MCM3AP	603294
1467	Periventricular heterotopia with microcephaly 608097	ARFGEF2	605371
1468	Periventricular nodular heterotopia 6	ERMARD	615532
1469	Periventricular nodular heterotopia 7	NEDD4L	606384
1470	Periventricular nodular heterotopia 8	ARF1	103180
1471	Periventricular nodular heterotopia 9	MAP1B	157129
1472	Perlman syndrome	DIS3L2	614184
1473	Peroxisomal acyl-CoA oxidase deficiency	ACOX1	609751
1474	Peroxisome biogenesis disorder 10B /Peroxisome biogenesis disorder 10A (Zellweger)	PEX3	603164
1475	Peroxisome biogenesis disorder 11A (Zellweger)/Peroxisome biogenesis disorder 11B	PEX13	601789
1476	Peroxisome biogenesis disorder 12A (Zellweger)	PEX19	600279
1477	Peroxisome biogenesis disorder 14B	PEX11B	603867
1478	Peroxisome biogenesis disorder 1A (Zellweger)/Peroxisome biogenesis disorder 1B	PEX1	602136
1479	Peroxisome biogenesis disorder 2A (Zellweger)/Peroxisome biogenesis disorder 2B	PEX5	600414
1480	Peroxisome biogenesis disorder 3A (Zellweger)/Peroxisome biogenesis disorder 3B	PEX12	601758
1481	Peroxisome biogenesis disorder 4A (Zellweger)/Peroxisome biogenesis disorder 4B	PEX6	601498
1482	Peroxisome biogenesis disorder 5A (Zellweger)/Peroxisome biogenesis disorder 5B	PEX2	170993
1483	Peroxisome biogenesis disorder 6A (Zellweger)/Peroxisome biogenesis disorder 6B	PEX10	602859
1484	Peroxisome biogenesis disorder 7A (Zellweger)	PEX26	608666
1485	Peroxisome biogenesis disorder 8A (Zellweger)/Peroxisome biogenesis disorder 8B	PEX16	603360
1486	Peroxisome biogenesis disorder 9B/Rhizomelic chondrodysplasia punctata	PEX7	601757
1487	Peters-plus syndrome	B3GLCT	610308
1488	Pettigrew syndrome	AP1S2	300629
1489	Phosphoglycerate kinase 1 deficiency	PGK1	311800
1490	Phosphoserine aminotransferase deficiency	PSAT1	610936
1491	Phosphoserine phosphatase deficiency	PSPH	172480
1492	Pierson syndrome	LAMB2	150325
1493	Pigmentary disorder	POLA1	312040
1494	Pilarowski-Bjornsson syndrome	CHD1	602118
1495	Pitt-Hopkins like syndrome 1	CNTNAP2	604569
1496	Pitt-Hopkins syndrome	TCF4	602272
1497	Pituitary hormone deficiency	HESX1	601802
1498	Pituitary hormone deficiency	POU1F1	173110
1499	Pituitary hormone deficiency	RNPC3	618016
1500	Poirier-Bienvenu neurodevelopmental syndrome	CSNK2B	115441
1501	Polyhydramnios	STRADA	608626
1502	Polymicrogyria	ADGRG1	604110
1503	Polymicrogyria	FIG4	609390
1504	Polymicrogyria	PI4KA	600286
1505	Pontocerebellar hypoplasia	AMPD2	102771
1506	Pontocerebellar hypoplasia	CHMP1A	164010
1507	Pontocerebellar hypoplasia	CLP1	608757
1508	Pontocerebellar hypoplasia	EXOSC3	606489
1509	Pontocerebellar hypoplasia	EXOSC8	606019
1510	Pontocerebellar hypoplasia	HEATR5B	619627
1511	Pontocerebellar hypoplasia	INPP4A	600916
1512	Pontocerebellar hypoplasia	MINPP1	605391
1513	Pontocerebellar hypoplasia	PCLO	604918
1514	Pontocerebellar hypoplasia	PPIL1	601301
1515	Pontocerebellar hypoplasia	RARS2	611524
1516	Pontocerebellar hypoplasia	TBC1D23	617687
1517	Pontocerebellar hypoplasia	TOE1	613931
1518	Pontocerebellar hypoplasia	TSEN15	608756
1519	Pontocerebellar hypoplasia	VPS51	615738
1520	Pontocerebellar hypoplasia	VPS53	615850
1521	Pontocerebellar hypoplasia type 2B	TSEN2	608753
1522	Pontocerebellar hypoplasia type 2C	TSEN34	608754
1523	Pontocerebellar hypoplasia type 2D	SEPSECS	613009
1524	Pontocerebellar hypoplasia type 5 /Pontocerebellar hypoplasia type 2A	TSEN54	608755
1525	Poretti-Boltshauser syndrome	LAMA1	150320
1526	Prieto syndrome	WNK3	300358
1527	Primary aldosteronism	CACNA1D	114206
1528	Primary microcephaly	AGMO	613738
1529	Primary microcephaly	NUP85	170285
1530	Primary microcephaly	PCDHB4	606330
1531	Primrose syndrome	ZBTB20	606025
1532	Progressive muscle weakness? facial dysmorphism	RBSN	609511
1533	Prolidase deficiency	PEPD	613230
1534	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	FLVCR2	610865
1535	Propionicacidemia	PCCA	232000
1536	Propionicacidemia	PCCB	232050
1537	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	PSMB8	177046
1538	Pseudo-TORCH syndrome 1	OCLN	602876
1539	Pseudo-TORCH syndrome 2	USP18	607057
1540	Pyridoxamine 5'-phosphate oxidase deficiency	PNPO	603287
1541	Pyruvate carboxylase deficiency	PC	608786
1542	Pyruvate dehydrogenase E1-alpha deficiency	PDHA1	300502
1543	Pyruvate dehydrogenase E1-beta deficiency	PDHB	179060
1544	Pyruvate dehydrogenase E2 deficiency	DLAT	608770
1545	Pyruvate dehydrogenase phosphatase deficiency	PDP1	605993
Q
1546	Q21.3	VPS50	616465
R
1547	RENI syndrome	SGPL1	603729
1548	Radio-Tartaglia syndrome	SPEN	613484
1549	Rafiq syndrome	MAN1B1	604346
1550	Rahman syndrome	H1-4	142220
1551	Raine syndrome	FAM20C	611061
1552	Rajab interstitial lung disease with brain calcifications 1	FARSB	609690
1553	Rajab interstitial lung disease with brain calcifications 2	FARSA	602918
1554	Rauch-Steindl syndrome	NSD2	602952
1555	Raynaud-Claes syndrome	CLCN4	302910
1556	Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy	CERS2	606920
1557	Renal tubular acidosis	SLC4A4	603345
1558	Renpenning syndrome	PQBP1	300463
1559	Respiratory insufficiency	FBRSL1	620123
1560	Retinitis pigmentosa with or without skeletal anomalies	CWC27	617170
1561	Rett syndrome	FOXG1	164874
1562	Rhizomelic chondrodysplasia punctata	GNPAT	602744
1563	Ribose 5-phosphate isomerase deficiency	RPIA	180430
1564	Ritscher-Schinzel syndrome 1	WASHC5	610657
1565	Ritscher-Schinzel syndrome 2	CCDC22	300859
1566	Ritscher-Schinzel syndrome 3	VPS35L	618981
1567	Ritscher-Schinzel syndrome 4	DPYSL5	608383
1568	Roberts-SC phocomelia syndrome	ESCO2	609353
1569	Robin sequence with cleft mandible and limb anomalies	EIF4A3	608546
1570	Robinow syndrome	ROR2	602337
1571	Rolantic epilepsy	AMZ1	615168
S
1572	SESAME syndrome/ Enlarged vestibular aqueduct	KCNJ10	602208
1573	SIMHA syndrome	ZNF407	615894
1574	Salla disease/Sialic acid storage disorder	SLC17A5	604322
1575	Salt and pepper developmental regression syndrome	ST3GAL5	604402
1576	Sandestig-Stefanova syndrome	NUP188	615587
1577	Sandhoff disease	HEXB	606873
1578	Schaaf-Yang syndrome	MAGEL2	605283
1579	Schizencephaly	EMX2	600035
1580	Schizophrenia	GRIN3B	606651
1581	Schizophrenia	NRXN1	600565
1582	Schizophrenia	PRODH	606810
1583	Schizophrenia 15/Phelan-McDermid syndrome	SHANK3	606230
1584	Schizophrenia susceptibility 18 /Dicarboxylic aminoaciduria	SLC1A1	133550
1585	Schizophrenia/autism spectrum disorder	GRIN3A	606650
1586	Schuurs-Hoeijmakers syndrome	PACS1	607492
1587	Schwartz-Jampel syndrome	HSPG2	142461
1588	Seckel syndrome 1 / Cutaneous telangiectasia and cancer syndrome	ATR	601215
1589	Seckel syndrome 4 / Microcephaly 6	CENPJ	609279
1590	Seckel syndrome 6	CEP63	614724
1591	Seckel syndrome 9	TRAIP	605958
1592	Segawa syndrome	TH	191290
1593	Seizures	CLDN5	602101
1594	Seizures	DIAPH1	602121
1595	Seizures	KCNQ3	602232
1596	Seizures	NRROS	615322
1597	Seizures with global developmental delay	PLK1	602098
1598	Severe anaemia	TOMM70	606081
1599	Severe developmental delay	NKX2-2	604612
1600	Severe intellectual disability	ROBO1	602430
1601	Severe muscular hypotonia	OTUD7A	612024
1602	Severe neurologic symptoms	FOXR1	615755
1603	Severe psychomotor retardation	KCTD3	613272
1604	Shashi-Pena syndrome	ASXL2	612991
1605	Short stature	PRMT7	610087
1606	Short stature	TKT	606781
1607	Short stature	XRCC4	194363
1608	Short stature-micrognathia syndrome	ARCN1	600820
1609	Short-rib thoracic dysplasia 18 with polydactyly	IFT43	614068
1610	Shprintzen-Goldberg syndrome	SKI	164780
1611	Shukla-Vernon syndrome	BCORL1	300688
1612	Sialidosis	NEU1	608272
1613	Sialuria	GNE	603824
1614	Sideroblastic anemia with B-cell immunodeficiency	TRNT1	612907
1615	Sifrim-Hitz-Weiss syndrome	CHD4	603277
1616	Simpson-Golabi-Behmel syndrome	GPC3	300037
1617	Sjogren-Larsson syndrome	ALDH3A2	609523
1618	Skraban-Deardorff syndrome	WDR26	617424
1619	Smith-Lemli-Opitz syndrome	DHCR7	602858
1620	Smith-Magenis syndrome	RAI1	607642
1621	Snijders Blok-Campeau syndrome	CHD3	602120
1622	Sotos syndrome	NSD1	606681
1623	Spastic ataxia	SACS	604490
1624	Spastic paraplegia	KIDINS220	615759
1625	Spastic paraplegia 11	SPG11	610844
1626	Spastic paraplegia 15	ZFYVE26	612012
1627	Spastic paraplegia 18	ERLIN2	611605
1628	Spastic paraplegia 26	B4GALNT1	601873
1629	Spastic paraplegia 4	SPAST	604277
1630	Spastic paraplegia 44	GJC2	608803
1631	Spastic paraplegia 45	NT5C2	600417
1632	Spastic paraplegia 46	GBA2	609471
1633	Spastic paraplegia 47	AP4B1	607245
1634	Spastic paraplegia 50	AP4M1	602296
1635	Spastic paraplegia 51	AP4E1	607244
1636	Spastic paraplegia 52	AP4S1	607243
1637	Spastic paraplegia 54	DDHD2	615003
1638	Spastic paraplegia 56	CYP2U1	610670
1639	Spastic paraplegia 64	ENTPD1	601752
1640	Spastic paraplegia 82	PCYT2	602679
1641	Spastic paraplegia 86	ABHD16A	142620
1642	Spastic paraplegia and psychomotor retardation with or without seizures	HACE1	610876
1643	Spastic tetraplegia	SLC1A4	600229
1644	Speech delay	BRSK2	609236
1645	Speech-language disorder-1	FOXP2	605317
1646	Spinal muscular atrophy with progressive myoclonic epilepsy/Cortical dysplasia	ASAH1	613468
1647	Spinocerebellar ataxia	ATG7	608760
1648	Spinocerebellar ataxia	CWF19L1	616120
1649	Spinocerebellar ataxia	GRID2	602368
1650	Spinocerebellar ataxia	PITRM1	618211
1651	Spinocerebellar ataxia	PMPCA	613036
1652	Spinocerebellar ataxia	RUBCN	613516
1653	Spinocerebellar ataxia	SCYL1	607982
1654	Spinocerebellar ataxia	SNX14	616105
1655	Spinocerebellar ataxia	TDP2	605764
1656	Spinocerebellar ataxia	UBA5	610552
1657	Spinocerebellar ataxia	VPS41	605485
1658	Spinocerebellar ataxia 13	KCNC3	176264
1659	Spinocerebellar ataxia 21	TMEM240	616101
1660	Spinocerebellar ataxia 27A/Spinocerebellar ataxia 27B	FGF14	601515
1661	Spinocerebellar ataxia 40 / Hydrocephalus	CCDC88C	611204
1662	Spinocerebellar ataxia 42	CACNA1G	604065
1663	Spinocerebellar ataxia 44/Spinocerebellar ataxia	GRM1	604473
1664	Spinocerebellar ataxia 47	PUM1	607204
1665	Spinocerebellar ataxia 5/Spinocerebellar ataxia	SPTBN2	604985
1666	Spondyloepimetaphyseal dysplasia	NANS	605202
1667	Spondyloepimetaphyseal dysplasia	RSPRY1	616585
1668	Spondylometaphyseal dysplasia	PAM16	614336
1669	Sporadic focal epilepsy	RBFOX1	605104
1670	Squalene synthase deficiency	FDFT1	184420
1671	Stankiewicz-Isidor syndrome	PSMD12	604450
1672	Stolerman neurodevelopmental syndrome	KDM6B	611577
1673	Striatonigral degeneration	NUP62	605815
1674	Str�mme syndrome	CENPF	600236
1675	Sturge-Weber syndrome	GNAQ	600998
1676	Succinic semialdehyde dehydrogenase deficiency	ALDH5A1	610045
1677	Suleiman-El-Hattab syndrome	TASP1	608270
1678	Sulfite oxidase deficiency	SUOX	606887
1679	Sweeney-Cox syndrome	TWIST1	601622
1680	Symmetric circumferential skin creases	MAPRE2	605789
T
1681	TARP syndrome	RBM10	300080
1682	Takenouchi-Kosaki syndrome	CDC42	116952
1683	Teebi hypertelorism syndrome 1	SPECC1L	614140
1684	Teebi hypertelorism syndrome 2/	CDH11	600023
1685	Temple-Baraitser syndrome/Zimmermann-Laband syndrome 1	KCNH1	603305
1686	Temtamy syndrome	C12orf57	615140
1687	Tenorio syndrome	RNF125	610432
1688	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	H4C3	602827
1689	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2	H4C11	602826
1690	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3	H4C5	602830
1691	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4	H4C9	602833
1692	Thauvin-Robinet-Faivre syndrome	FIBP	608296
1693	Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)	SLC19A3	606152
1694	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	RAP1B	179530
1695	Timothy syndrome/ Long QT syndrome 8	CACNA1C	114205
1696	Tolchin-Le Caignec syndrome	SOX6	607257
1697	Tonne-Kalscheuer syndrome	RLIM	300379
1698	Trichohepatoenteric syndrome 1	TTC37	614589
1699	Trichohepatoneurodevelopmental syndrome	CCDC47	618260
1700	Trichothiodystrophy 3	GTF2H5	608780
1701	Trichothiodystrophy 4	MPLKIP	609188
1702	Trichothiodystrophy 5	RNF113A	300951
1703	Trichothiodystrophy 6	GTF2E2	189964
1704	Triokinase and FMN cyclase deficiency syndrome	TKFC	615844
1705	Troyer syndrome	SPART	607111
1706	Turnpenny-Fry syndrome	PCGF2	600346
1707	Tyrosinemia	HPD	609695
1708	Tyrosinemia	TAT	613018
U
1709	Urocanase deficiency	UROC1	613012
1710	Usmani-Riazuddin syndrome	AP1G1	603533
V
1711	Van Maldergem syndrome 1	DCHS1	603057
1712	Van Maldergem syndrome 1	DYNC1I2	603331
1713	Van Maldergem syndrome 2	FAT4	612411
1714	Ventricular tachycardia	RYR2	180902
1715	Ventriculomegaly with cystic kidney disease	CRB2	609720
1716	Verheij syndrome	PUF60	604819
1717	Ververi-Brady syndrome	QRICH1	617387
1718	Vici syndrome	EPG5	615068
W
1719	Warburg micro syndrome 3	RAB18	602207
1720	Warburg micro syndrome 4	TBC1D20	611663
1721	Warsaw breakage syndrome	DDX11	601150
1722	Weaver syndrome	EZH2	601573
1723	Weiss-Kruszka syndrome	ZNF462	617371
1724	White-Kernohan syndrome	DDB1	600045
1725	White-Sutton syndrome	POGZ	614787
1726	Wieacker-Wolff syndrome/Wieacker-Wolff syndrome	ZC4H2	300897
1727	Wiedemann-Steiner syndrome'	KMT2A	159555
1728	Wilson disease	ATP7B	606882
1729	Wilson-Turner syndrome	LAS1L	300964
1730	Witteveen-Kolk syndrome	SIN3A	607776
1731	Wolcott-Rallison syndrome	EIF2AK3	604032
1732	Woodhouse-Sakati syndrome	DCAF17	612515
X
1733	Xeroderma pigmentosum	ERCC3	133510
1734	Xeroderma pigmentosum	XPA	611153
1735	Xia-Gibbs syndrome	AHDC1	615790
Y
1736	Yoon-Bellen neurodevelopmental syndrome	OGDHL	617513
1737	You-Hoover-Fong syndrome	TELO2	611140
Z
1738	ZTTK syndrome	SON	182465
1739	Zimmermann-Laband syndrome 2	ATP6V1B2	606939
1740	Zimmermann-Laband syndrome 3	KCNN3	602983