Patient Gene OMIM name OMIM number Phenotypic characteristics [diagnosis] CT/MRI/PET result
1 POLR1A None NA Dementia, epilepsy, spasticity [Pelizaeus-Merzbacher] CBL, WM
4 KIAA0586 Joubert syndrome 23 616490 Ataxia, epilepsy; molar tooth sign [Joubert syndrome] CBL
5 PEX5 Rhizomelic chondrodysplasia punctata, type 5 616716 Cataract, epilepsy, ID, PN [Conradi-Hünerman-like] Normal
8 TGFB1 Inflammatory bowel disease, immunodeficiency, and encephalopathy 618213 Dementia, epilepsy, microcephaly, Autoimmune colitis CTX
9 SLC18A2 Parkinsonism-dystonia, infantile, 2 618049 Dystonia, spasticity [Neurotransmitter disorder] Normal
11 TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900 Dementia, epilepsy, PN [GM2 ganglioside storage] CBL, CTX
12
GRIN1
 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 614254
Autism, dystonia, epilepsy, insomnia [Rett-like]
Normal
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 617820
13 NGLY1 Congenital disorder of deglycosylation 615273 Early infantile epilepsy syndrome CTX
14 ZBTB11 Intellectual developmental disorder, autosomal recessive 69 618383 Cataract, dystonia, spasticity, microcephaly BG, CBL, WM
15 SURF1 Leigh syndrome, due to COX IV deficiency 220110 Ataxia, myopathy, PEO, RP [Kearn-Sayre syndrome]  
17
GRIN2B
 Epileptic encephalopathy, early infantile, 27 616139
Ataxia, ID, self-mutilation [Angelman-like]
CTX
Mental retardation, autosomal dominant 6 613970
18 SLCO1C1 None NA Ataxia, dementia, spasticity; increased NFLP in CSF CBL, CTX
20 SZT2 Epileptic encephalopathy, early infantile, 18 615476 Autism, epilepsy, macrocephaly Normal
22
KCNQ2
 Epileptic encephalopathy, early infantile, 7 613720
Dystonia (- Dopa), spasticity [Pelizaeus‐Merzbacher]
CCH, WM
Myokymia. Seizures, benign neonatal, 1 121200
26
KCNQ2
 Epileptic encephalopathy, early infantile, 7 613720
Early infantile epilepsy syndrome [Othahara]
CBL, CTX
Myokymia. Seizures, benign neonatal, 1 121200
28
IGHMBP2
 Charcot-Marie-Tooth disease, axonal, type 2S 616155
Progressive neuropathy, rapid progression
Normal
Neuronopathy, distal hereditary motor, type VI 604320
29 PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Ataxia, early infantile epilepsy [Dravet-like syndrome] CBL, CTX
31
 PDE6H Achromatopsia 6. Retinal cone dystrophy 3 610024 Retinopathy [Achromatopsia] and
Not done
LPAR6 Hypotrichosis 8. Woolly hair, autosomal recessive 1, with or without hypotrichosis 278150 Hereditary alopecia
32 YY1 Gabriele-de Vries syndrome 617557 Dystonia (not Dopa responsive), ID; Oesophageal atresia Normal
33 BBS12 Bardet-Biedl syndrome 12 615989 ID, retinopathy; hypogonadism & obesity [Bardet-Biedel] Not done
34
 CBY1 None NA Joubert syndrome
CBL
NHP2 Dyskeratosis congenita, autosomal recessive 2 613987 Skin pigmentation anomalies, hypogonadism, neuropathy/myopathy, respiratory difficulties
37 UBE3B Kaufman oculocerebrofacial syndrome 244450 Oculo-cerebro-facial anomalies [Kaufman syndrome] Normal
40
SETBP1
 Mental retardation, autosomal dominant 29 616078
Epilepsy, ID; Hypertrichosis [Schinzel-Giedion]
CTX
Schinzel-Giedion midface retraction syndrome 269150
41 PYCR2 Leukodystrophy, hypomyelinating, 10 616420 Ataxia, epilepsy, microcephaly; Hot cross bun sign BS,CBL,CTX
43 SLC52A2 Brown-Vialetto-Van Laere syndrome 2 614707 Apnea, PN; Aplastic anemia; Hydrops foetalis, Vacuoles CTX, WM
44 KMT2B Dystonia 28, childhood-onset 617284 Dystonia, spasticity; Non-PKAN neurodegeneration+iron BG
45 UBTF Neurodegeneration, childhood-onset, with brain atrophy 617672 Dementia, epilepsy, small feet [Pelizaeus-Merzbacher] CTX
46 FBXL4 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 615471 Brain cysts, hydrocephalus; Lactacidosis Ventricles
47 GBA2 Spastic paraplegia 46, autosomal recessive 614409 [Hereditary spastic paraplegia]; cataracts Normal
50 FADD Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 613759 Epilepsy, learning difficulties [Dravet-like syndrome] Normal
53 HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 Epilepsy, ID, microcephaly [West syndrome like] CBL, CTX
56 CLN8 Ceroid lipofuscinosis, neuronal, 8 600143 Ataxia, dementia, epilepsy, psychosis [Northern epilepsy] CBL
57 POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381 Ataxia, epilepsy, spasticity; Leukodystrophy CBL, WM
58 MYH2 Proximal myopathy and ophthalmoplegia 605637 Progressive external ophthalmoplegia, ID [PEO] Normal
59
SCN8A
 Myoclonus, familial, 2 618364
Epileptic encephalopathy
CTX
Cognitive impairment with or without cerebellar ataxia 614306
Epileptic encephalopathy, early infantile, 13 614558
Seizures, benign familial infantile, 5 617080
60 DEAF1 Dyskinesia, seizures, and intellectual developmental disorder 617171 Develop delay, dystonia, hypotonia, pigment change, VSD CCA, CTX
63 and 64 SLC39A8 Congenital disorder of glycosylation, type IIn 616721 Ataxia, hypotonia, scoliosis, seizures (low grade), strabism (converging) CBL
67 TOE1 Pontocerebellar hypoplasia, type 7 614969 Ataxia, general develop delay, spasticity CBL
68 AP4M1 Spastic paraplegia 50, autosomal recessive 612936 Leukodystrophy, hypoendocrine [4H Leukodystrophy] CCH, ventr
70 KMT2A Wiedemann-Steiner syndrome 605130 Autism, microcephaly, CIPO [MNGIE-like syndrome] Normal
71 CSTB Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Ataxia, dementia, epilepsy [Progressive Myoclonic Epi] CBL
74 POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381 Ataxia, psychiatry (anger), spasticity [Leukodystrophy] WM
75 KREMEN1 Ectodermal dysplasia 13, hair/tooth type 617392 Alopecia, hypodontia [Hair – teeth syndrome] Not done
 
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