EpidasdAct - Genelist

#	Condition	Gene	OMIM ID
1	3 Hyperprolinemia, type II	ALDH4A1	606811
2	3-methylglutaconic aciduria, type IX	TIMM50	607381
A
3	Adenylosuccinase deficiency	ADSL	608222
4	Alpha-thalassemia/mental retardation syndrome / Mental retardation-hypotonic facies syndrome, X-linked	ATRX	300032
5	Alternating hemiplegia of childhood 1 / Developmental and epileptic encephalopathy 98 / Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies / Migraine, familial basilar / Migraine, familial hemiplegic, 2	ATP1A2	182340
6	Angelman syndrome	UBE3A	601623
7	Aphasia, primary progressive / Ceroid lipofuscinosis, neuronal, 11 / Frontotemporal dementia 2	GRN	138945
8	Arboleda-Tham syndrome	KAT6A	601408
B
9	Biotinidase deficiency	BTD	609019
10	Blepharophimosis-impaired intellectual development syndrome / Nicolaides-Baraitser syndrome	SMARCA2	600014
11	Brain small vessel disease with or without ocular anomalies / Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	COL4A1	120130
12	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome / Kabuki syndrome 1	KMT2D	602113
C
13	CHARGE syndrome	CHD7	608892
14	CHIME syndrome	PIGL	605947
15	Cardiofaciocutaneous syndrome / LEOPARD syndrome 3 / Noonan syndrome 7	BRAF	164757
16	Cerebral creatine deficiency syndrome 1	SLC6A8	300036
17	Cerebral creatine deficiency syndrome 2	GAMT	601240
18	Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B	ERCC6	609413
19	Ceroid lipofuscinosis, neuronal, 1	PPT1	600722
20	Ceroid lipofuscinosis, neuronal, 10	CTSD	116840
21	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	CTSF	615362
22	Ceroid lipofuscinosis, neuronal, 2 / Spinocerebellar ataxia, autosomal recessive 7	TPP1	607998
23	Ceroid lipofuscinosis, neuronal, 3	CLN3	607042
24	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	DNAJC5	611203
25	Ceroid lipofuscinosis, neuronal, 5	CLN5	608102
26	Ceroid lipofuscinosis, neuronal, 6A / Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	CLN6	606725
27	Ceroid lipofuscinosis, neuronal, 7,	MFSD8	611124
28	Ceroid lipofuscinosis, neuronal, 8 / Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	CLN8	607837
29	Charcot-Marie-Tooth disease, type 2B2 / Ataxia-oculomotor apraxia 4 / Microcephaly, seizures, and developmental delay	PNKP	605610
30	Citrullinemia, adult-onset type II	SLC25A13	603859
31	Coenzyme Q10 deficiency, primary, 3	PDSS2	610564
32	Coenzyme Q10 deficiency, primary, 4	COQ8A	606980
33	Coffin-Siris syndrome 1	ARID1B	614556
34	Combined oxidative phosphorylation deficiency 11	RMND1	614917
35	Combined oxidative phosphorylation deficiency 14	FARS2	611592
36	Combined oxidative phosphorylation deficiency 20	VARS2	612802
37	Combined oxidative phosphorylation deficiency 23	GTPBP3	608536
38	Combined oxidative phosphorylation deficiency 24	NARS2	612803
39	Congenital contractures of the limbs and face, hypotonia, and developmental delay / Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	NALCN	611549
40	Congenital disorder of glycosylation, type Iim	SLC35A2	314375
41	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13	603309
42	Convulsions, familial infantile, with paroxysmal choreoathetosis / Episodic kinesigenic dyskinesia 1 / Seizures, benign familial infantile, 2	PRRT2	614386
43	Cornelia de Lange syndrome 2 / Developmental and epileptic encephalopathy 85, with or without midline brain defects	SMC1A	300040
44	Cortical dysplasia, complex, with other brain malformations 13 / Charcot-Marie-Tooth disease, axonal, type 2O / Spinal muscular atrophy, lower extremity-predominant 1, AD	DYNC1H1	600112
45	Cowden syndrome 1 / Lhermitte-Duclos disease / Macrocephaly / autism syndrome	PTEN	601728
D
46	Developmental and epileptic encephalopathy / Hydranencephaly with abnormal genitalia / Lissencephaly, X-linked 2 / Mental retardation, X-linked 29 / Partington syndrome / Proud syndrome	ARX	300382
47	Developmental and epileptic encephalopathy 11 / Episodic ataxia, type 9 / Seizures, benign familial infantile, 3	SCN2A	182390
48	Developmental and epileptic encephalopathy 12	PLCB1	607120
49	Developmental and epileptic encephalopathy 14 / Epilepsy nocturnal frontal lobe, 5	KCNT1	608167
50	Developmental and epileptic encephalopathy 15 / Intellectual developmental disorder, autosomal recessive 12	ST3GAL3	606494
51	Developmental and epileptic encephalopathy 16 / DOORS syndrome / Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp / Myoclonic epilepsy, infantile, familial	TBC1D24	613577
52	Developmental and epileptic encephalopathy 17 / Neurodevelopmental disorder with involuntary movements	GNAO1	139311
53	Developmental and epileptic encephalopathy 18	SZT2	615463
54	Developmental and epileptic encephalopathy 19 / {Epilepsy, childhood absence, susceptibility to, 4}	GABRA1	137160
55	Developmental and epileptic encephalopathy 2	CDKL5	300203
56	Developmental and epileptic encephalopathy 21	NECAP1	611623
57	Developmental and epileptic encephalopathy 23	DOCK7	615730
58	Developmental and epileptic encephalopathy 24 / Generalized epilepsy with febrile seizures plus, type 10	HCN1	602780
59	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	SLC13A5	608305
60	Developmental and epileptic encephalopathy 26	KCNB1	600397
61	Developmental and epileptic encephalopathy 27 / Intellectual developmental disorder, autosomal dominant 6, with or without seizures	GRIN2B	138252
62	Developmental and epileptic encephalopathy 28 / Spinocerebellar ataxia, autosomal recessive 12	WWOX	605131
63	Developmental and epileptic encephalopathy 29 / Trichothiodystrophy 8, nonphotosensitive	AARS1	601065
64	Developmental and epileptic encephalopathy 3	SLC25A22	609302
65	Developmental and epileptic encephalopathy 30	SIK1	605705
66	Developmental and epileptic encephalopathy 31	DNM1	602377
67	Developmental and epileptic encephalopathy 32	KCNA2	176262
68	Developmental and epileptic encephalopathy 33 / Intellectual developmental disorder, autosomal dominant 38	EEF1A2	602959
69	Developmental and epileptic encephalopathy 36	ALG13	300776
70	Developmental and epileptic encephalopathy 37	FRRS1L	604574
71	Developmental and epileptic encephalopathy 4	STXBP1	602926
72	Developmental and epileptic encephalopathy 42 / Episodic ataxia, type 2 / Migraine, familial hemiplegic, 1 / Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia / Spinocerebellar ataxia 6	CACNA1A	601011
73	Developmental and epileptic encephalopathy 43/{Epilepsy, childhood absence, susceptibility to, 5}	GABRB3	137192
74	Developmental and epileptic encephalopathy 46	GRIN2D	602717
75	Developmental and epileptic encephalopathy 5	SPTAN1	182810
76	Developmental and epileptic encephalopathy 50	CAD	114010
77	Developmental and epileptic encephalopathy 52 / Generalized epilepsy with febrile seizures plus, type 1	SCN1B	600235
78	Developmental and epileptic encephalopathy 53 / Parkinson disease 20, early-onset	SYNJ1	604297
79	Developmental and epileptic encephalopathy 55	PIGP	605938
80	Developmental and epileptic encephalopathy 57	KCNT2	610044
81	Developmental and epileptic encephalopathy 62 / Epilepsy, familial focal, with variable foci 4	SCN3A	182391
82	Developmental and epileptic encephalopathy 6B, non-Dravet / Dravet syndrome / Febrile seizures, familial, 3A / Generalized epilepsy with febrile seizures plus, type 2 / Migraine, familial hemiplegic, 3	SCN1A	182389
83	Developmental and epileptic encephalopathy 7 / Myokymia / Seizures, self-limiting neonatal, 1	KCNQ2	602235
84	Developmental and epileptic encephalopathy 74 / Febrile seizures, familial, 8 / Generalized epilepsy with febrile seizures plus, type 3	GABRG2	137164
85	Developmental and epileptic encephalopathy 80	PIGB	604122
86	Developmental and epileptic encephalopathy 82	GOT2	138150
87	Developmental and epileptic encephalopathy 9	PCDH19	300460
88	Developmental and epileptic encephalopathy 94	CHD2	602119
89	Developmental and epileptic encephalopathy 95	PIGS	610271
90	Developmental delay with variable intellectual impairment and behavioral abnormalities	TCF20	603107
91	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities/Floating-Harbor syndrome	SRCAP	611421
E
92	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	MFF	614785
93	Encephalopathy, familial, with neuroserpin inclusion bodies	SERPINI1	602445
94	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 / Optic atrophy 5	DNM1L	603850
95	Encephalopathy, neonatal severe / Intellectual developmental disorder, X-linked syndromic 13 / Intellectual developmental disorder, X-linked syndromic, Lubs type / Rett syndrome / Rett syndrome, atypical / Rett syndrome, preserved speech variant	MECP2	300005
96	Epilepsy, early-onset, 1, vitamin B6-dependent	PLPBP	604436
97	Epilepsy, early-onset, 4, vitamin B6-dependent	ALDH7A1	107323
98	Epilepsy, familial focal, with variable foci 1 / Developmental and epileptic encephalopathy 111	DEPDC5	614191
99	Epilepsy, familial focal, with variable foci 2	NPRL2	607072
100	Epilepsy, familial focal, with variable foci 3	NPRL3	600928
101	Epilepsy, familial temporal lobe, 1	LGI1	604619
102	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	GRIN2A	138253
103	Epilepsy, idiopathic generalized, susceptibility to, 12 / Dystonia 9 / GLUT1 deficiency syndrome 1, infantile onset, severe / GLUT1 deficiency syndrome 2, childhood onset / Stomatin-deficient cryohydrocytosis with neurologic defects	SLC2A1	138140
104	Epilepsy, idiopathic generalized, susceptibility to, 16 / Cerebellar atrophy, developmental delay, and seizures / Liang-Wang syndrome / Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	KCNMA1	600150
105	Epilepsy, nocturnal frontal lobe, 1	CHRNA4	118504
106	Epilepsy, nocturnal frontal lobe, 3	CHRNB2	118507
107	Epilepsy, nocturnal frontal lobe, type 4	CHRNA2	118502
108	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	CSTB	601145
109	Epilepsy, progressive myoclonic 2A (Lafora)	EPM2A	607566
110	Epilepsy, progressive myoclonic 2B (Lafora)	NHLRC1	608072
111	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	KCTD7	611725
112	Epilepsy, progressive myoclonic 4, with or without renal failure	SCARB2	602257
113	Epilepsy, progressive myoclonic 7	KCNC1	176258
F
114	FG syndrome 4 / Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / Intellectual developmental disorder, with or without nystagmus	CASK	300172
115	Focal cortical dysplasia, type II, somatic / Smith-Kingsmore syndrome	MTOR	601231
116	Focal cortical dysplasia, type II, somatic / Tuberous sclerosis-2	TSC2	191092
117	Focal cortical dysplasia, type II, somatic/ Tuberous sclerosis-1	TSC1	605284
G
118	GABA-transaminase deficiency	ABAT	137150
119	Generalized epilepsy with febrile seizures plus, type 9	STX1B	601485
120	Gillespie syndrome / Spinocerebellar ataxia 15 / Spinocerebellar ataxia 29, congenital nonprogressive	ITPR1	147265
121	Glass syndrome	SATB2	608148
122	Glutaric acidemia IIA	ETFA	608053
123	Glutaric acidemia IIB	ETFB	130410
124	Glutaric acidemia IIC	ETFDH	231675
125	Glycine encephalopathy	GLDC	238300
126	Glycine encephalopathy 2	AMT	238310
127	Glycosylphosphatidylinositol biosynthesis defect 11	PIGW	610275
128	Glycosylphosphatidylinositol biosynthesis defect 16	PIGC	601730
129	Glycosylphosphatidylinositol biosynthesis defect 17	PIGH	600154
130	Glycosylphosphatidylinositol deficiency	PIGM	610273
H
131	Helsmoortel-van der Aa syndrome	ADNP	611386
132	Hogue-Janssens syndrome 1	PPP2R5D	601646
133	Hyperphosphatasia with impaired intellectual development syndrome 1	PIGV	610274
134	Hyperphosphatasia with impaired intellectual development syndrome 2	PIGO	614730
135	Hyperphosphatasia with impaired intellectual development syndrome 6	PIGY	610662
136	Hypomagnesemia 1, intestinal	TRPM6	607009
I
137	Impaired intellectual development and distinctive facial features with or without cardiac defects	MED13L	608771
138	Intellectual developmental disorder with language impairment with or without autistic features	FOXP1	605515
139	Intellectual developmental disorder, X-linked 1	IQSEC2	300522
140	Intellectual developmental disorder, X-linked 98	NEXMIF	300524
141	Intellectual developmental disorder, X-linked syndromic, Turner type	HUWE1	300697
142	Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type	DDX3X	300160
143	Intellectual developmental disorder, autosomal dominant 1	MBD5	611472
144	Intellectual developmental disorder, autosomal dominant 23	SETD5	615743
145	Intellectual developmental disorder, autosomal dominant 26	AUTS2	607270
146	Intellectual developmental disorder, autosomal dominant 29 / Schinzel-Giedion midface retraction syndrome	SETBP1	611060
147	Intellectual developmental disorder, autosomal dominant 42	GNB1	139380
148	Intellectual developmental disorder, autosomal dominant 5	SYNGAP1	603384
149	Intellectual developmental disorder, autosomal dominant 7	DYRK1A	600855
K
150	KBG syndrome	ANKRD11	611192
151	Kabuki syndrome 2	KDM6A	300128
152	Kleefstra syndrome 1	EHMT1	607001
153	Kohlschutter-Tonz syndrome	ROGDI	614574
L
154	LEOPARD syndrome 1 / Noonan syndrome 1	PTPN11	176876
155	Lacticacidemia due to PDX1 deficiency	PDHX	608769
156	Lissencephaly 1/Subcortical laminar heterotopia	PAFAH1B1	601545
157	Lujan-Fryns syndrome / Ohdo syndrome, X-linked / Opitz-Kaveggia syndrome	MED12	300188
M
158	Menke-Hennekam syndrome 1	CREBBP	600140
159	Menke-Hennekam syndrome 2 / Rubinstein-Taybi syndrome 2	EP300	602700
160	Menkes disease / Occipital horn syndrome / Spinal muscular atrophy, distal, X-linked 3	ATP7A	300011
161	Mitochondrial DNA depletion syndrome 4A (Alpers type) / Mitochondrial DNA depletion syndrome 4B (MNGIE type) / Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) / Progressive external ophthalmoplegia, autosomal dominant 1 / Progressive external ophthalmoplegia, autosomal recessive 1	POLG	174763
162	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)/Mitochondrial DNA depletion syndrome 8B (MNGIE type)/Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	RRM2B	604712
163	Mitochondrial complex IV deficiency, nuclear type 3	COX10	602125
164	Molybdenum cofactor deficiency A	MOCS1	603707
165	Mowat-Wilson syndrome	ZEB2	605802
166	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	606097
167	Multiple congenital anomalies-hypotonia-seizures syndrome 2/Neurodevelopmental disorder with epilepsy and hemochromatosis/Paroxysmal nocturnal hemoglobinuria, somatic	PIGA	311770
168	Multiple congenital anomalies-hypotonia-seizures syndrome 3	PIGT	610272
169	Multiple congenital anomalies-hypotonia-seizures syndrome 4	PIGQ	605754
170	Multiple mitochondrial dysfunctions syndrome 6	PMPCB	603131
171	Myoclonic-atonic epilepsy	SLC6A1	137165
172	Myoclonus, familial, 2 / Cognitive impairment with or without cerebellar ataxia / Developmental and epileptic encephalopathy 13 / Seizures, benign familial infantile, 5	SCN8A	600702
N
173	NESCAV syndrome / Neuropathy, hereditary sensory, type IIC / Spastic paraplegia 30, autosomal dominant / Spastic paraplegia 30, autosomal recessive	KIF1A	601255
174	Neurodegeneration due to cerebral folate transport deficiency	FOLR1	136430
175	Neurodegeneration with brain iron accumulation 5	WDR45	300526
176	Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	PIGU	608528
177	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures / Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT1	614506
178	Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	SPATA5	613940
179	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	PIGK	605087
180	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	MEF2C	600662
181	Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties	PURA	600473
182	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant / Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive / Developmental and epileptic encephalopathy 101	GRIN1	138249
183	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	PIGG	616918
184	Neurodevelopmental disorder with spastic diplegia and visual defects	CTNNB1	116806
185	Neurofibromatosis-Noonan syndrome / Neurofibromatosis, familial spinal/Neurofibromatosis, type 1 / Watson syndrome	NF1	613113
O
186	Ornithine transcarbamylase deficiency	OTC	300461
P
187	Phosphoserine phosphatase deficiency	PSPH	172480
188	Pitt-Hopkins like syndrome 1 / {Autism susceptibility 15}	CNTNAP2	604569
189	Pitt-Hopkins syndrome	TCF4	602272
190	Polyhydramnios, megalencephaly, and symptomatic epilepsy	STRADA	608626
191	Pyridoxamine 5'-phosphate oxidase deficiency	PNPO	603287
R
192	Raynaud-Claes syndrome	CLCN4	302910
193	Rett syndrome, congenital variant	FOXG1	164874
S
194	Schuurs-Hoeijmakers syndrome	PACS1	607492
195	Seizures, benign neonatal, 2	KCNQ3	602232
196	Sotos syndrome	NSD1	606681
T
197	Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)	SLC19A3	606152
W
198	White-Sutton syndrome	POGZ	614787
199	Wiedemann-Steiner syndrome'	KMT2A	159555
X
200	Xia-Gibbs syndrome	AHDC1	615790