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 |