NEUROLOGY
Encephalopathy/Epilepsy/Seizures/Spasms
| Title | Phenotype | Inheritance |
|---|---|---|
| PPP3CA | epileptic encephalopathy, infantile or early childhood, 1 | AD |
| CHRNB2 | epilepsy, nocturnal frontal lobe, 3 | |
| CHRNA4 | {nicotine addiction, susceptibility to} | |
| CHRNA4 | epilepsy, nocturnal frontal lobe, 1 | AD |
| CHRNA2 | epilepsy, nocturnal frontal lobe, type 4 | AD |
| DHFR | megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
| FOLR1 | neurodegeneration due to cerebral folate transport deficiency | AR |
| GABRD | {epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} | AD |
| GABRD | {epilepsy, idiopathic generalized, 10} | AD |
| GABRD | {epilepsy, juvenile myoclonic, susceptibility to} | AD |
| SLC6A1 | myoclonic-atonic epilepsy | AD |
| GABRA1 | {epilepsy, childhood absence, susceptibility to, 4} | |
| GABRA1 | {epilepsy, juvenile myoclonic, susceptibility to, 5} | |
| GABRA1 | epileptic encephalopathy, early infantile, 19 | AD |
| GLUD1 | hyperinsulinism-hyperammonemia syndrome | AD |
| GFAP | alexander disease | AD |
| GRIN1 | neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | AD |
| GRIN1 | neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | AR |
| GRIN2A | epilepsy, focal, with speech disorder and with or without mental retardation | AD |
| SLC2A1 | {epilepsy, idiopathic generalized, susceptibility to, 12} | AD |
| SLC2A1 | dystonia 9 | AD |
| SLC2A1 | glut1 deficiency syndrome 1, infantile onset, severe | AD, AR |
| SLC2A1 | glut1 deficiency syndrome 2, childhood onset | AD |
| SLC2A1 | stomatin-deficient cryohydrocytosis with neurologic defects | AD |
| GABRG2 | epilepsy, generalized, with febrile seizures plus, type 3 | AD |
| GABRG2 | epileptic encephalopathy, early infantile, 74 | AD |
| GABRG2 | febrile seizures, familial, 8 | AD |
| GNAO1 | epileptic encephalopathy, early infantile, 17 | AD |
| GABRB3 | {epilepsy, childhood absence, susceptibility to, 5} | |
| GABRB3 | epileptic encephalopathy, early infantile, 43 | AD |
| LAMA2 | muscular dystrophy, congenital, merosin deficient or partially deficient | AR |
| LAMA2 | muscular dystrophy, limb-girdle, autosomal recessive 23 | AR |
| NDUFS1 | mitochondrial complex i deficiency, nuclear type 5 | AR |
| NDUFV1 | mitochondrial complex i deficiency, nuclear type 4 | AR |
| GLI3 | {hypothalamic hamartomas, somatic} | |
| GLI3 | greig cephalopolysyndactyly syndrome | AD |
| GLI3 | pallister-hall syndrome | AD |
| GLI3 | polydactyly, postaxial, types a1 and b | AD |
| GLI3 | polydactyly, preaxial, type iv | AD |
| KCNC1 | epilepsy, progressive myoclonic 7 | AD |
| KCNA1 | episodic ataxia/myokymia syndrome | AD |
| POLG | mitochondrial dna depletion syndrome 4a (alpers type) | AR |
| POLG | mitochondrial dna depletion syndrome 4b (mngie type) | AR |
| POLG | mitochondrial recessive ataxia syndrome (includes sando and scae) | AR |
| POLG | progressive external ophthalmoplegia, autosomal dominant 1 | AD |
| POLG | progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| PSAP | combined sap deficiency | AR |
| PSAP | gaucher disease, atypical | |
| PSAP | krabbe disease, atypical | AR |
| PSAP | metachromatic leukodystrophy due to sap-b deficiency | AR |
| ATP1A2 | alternating hemiplegia of childhood 1 | AD |
| ATP1A2 | migraine, familial basilar | AD |
| ATP1A2 | migraine, familial hemiplegic, 2 | AD |
| SCN1A | epilepsy, generalized, with febrile seizures plus, type 2 | AD |
| SCN1A | epileptic encephalopathy, early infantile, 6 (dravet syndrome) | AD |
| SCN1A | febrile seizures, familial, 3a | AD |
| SCN1A | migraine, familial hemiplegic, 3 | AD |
| SCN3A | epilepsy, familial focal, with variable foci 4 | AD |
| SCN3A | epileptic encephalopathy, early infantile, 62 | AD |
| TSC2 | ?focal cortical dysplasia, type ii, somatic | |
| TSC2 | lymphangioleiomyomatosis, somatic | |
| TSC2 | tuberous sclerosis-2 | AD |
| DPAGT1 | myasthenic syndrome, congenital, 13, with tubular aggregates | AR |
| GLDC | glycine encephalopathy | AR |
| GCSH | ?glycine encephalopathy | AR |
| DLD | dihydrolipoamide dehydrogenase deficiency | AR |
| SLC6A8 | cerebral creatine deficiency syndrome 1 | XLR |
| NDUFA1 | mitochondrial complex i deficiency, nuclear type 12 | XLR |
| KDM6A | kabuki syndrome 2 | XLD |
| ATRX | alpha-thalassemia myelodysplasia syndrome, somatic | |
| ATRX | alpha-thalassemia/mental retardation syndrome | XLD |
| ATRX | mental retardation-hypotonic facies syndrome, x-linked | XLR |
| DCX | lissencephaly, x-linked | XL |
| DCX | subcortical laminal heterotopia, x-linked | XL |
| CDKL5 | epileptic encephalopathy, early infantile, 2 | XLD |
| SLC9A6 | mental retardation, x-linked syndromic, christianson type | XLD |
| HSD17B10 | hsd10 mitochondrial disease | XLD |
| ARHGEF9 | epileptic encephalopathy, early infantile, 8 | XLR |
| PDHA1 | pyruvate dehydrogenase e1-alpha deficiency | XLD |
| PCDH19 | epileptic encephalopathy, early infantile, 9 | XL |
| PLP1 | pelizaeus-merzbacher disease | XLR |
| PLP1 | spastic paraplegia 2, x-linked | XLR |
| IQSEC2 | mental retardation, x-linked 1/78 | XLD |
| NEXMIF | mental retardation, x-linked 98 | XLD |
| RAB39B | mental retardation, x-linked 72 | XLR |
| RAB39B | waisman syndrome | XLR |
| ATP6AP2 | ?parkinsonism with spasticity, x-linked | XLR |
| ATP6AP2 | mental retardation, x-linked, syndromic, hedera type | XLR |
| IDS | mucopolysaccharidosis ii | XLR |
| SYN1 | epilepsy, x-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
| EMX2 | schizencephaly | |
| KCNMA1 | {epilepsy, idiopathic generalized, susceptibility to, 16} | AD |
| KCNMA1 | cerebellar atrophy, developmental delay, and seizures | AR |
| KCNMA1 | liang-wang syndrome | AD |
| KCNMA1 | paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | AD |
| SCN5A | {sudden infant death syndrome, susceptibility to} | AR |
| SCN5A | atrial fibrillation, familial, 10 | AD |
| SCN5A | brugada syndrome 1 | AD |
| SCN5A | cardiomyopathy, dilated, 1e | AD |
| SCN5A | heart block, nonprogressive | AD |
| SCN5A | heart block, progressive, type ia | AD |
| SCN5A | long qt syndrome 3 | AD |
| SCN5A | sick sinus syndrome 1 | AR |
| SCN5A | ventricular fibrillation, familial, 1 | |
| KCNB1 | epileptic encephalopathy, early infantile, 26 | AD |
| SCN1B | atrial fibrillation, familial, 13 | AD |
| SCN1B | brugada syndrome 5 | |
| SCN1B | cardiac conduction defect, nonspecific | |
| SCN1B | epilepsy, generalized, with febrile seizures plus, type 1 | AD |
| SCN1B | epileptic encephalopathy, early infantile, 52 | AR |
| RELN | {epilepsy, familial temporal lobe, 7} | AD |
| RELN | lissencephaly 2 (norman-roberts type) | AR |
| AUH | 3-methylglutaconic aciduria, type i | AR |
| PURA | mental retardation, autosomal dominant 31 | AD |
| CPT2 | {encephalopathy, acute, infection-induced, 4, susceptibility to} | AD, AR |
| CPT2 | cpt ii deficiency, infantile | AR |
| CPT2 | cpt ii deficiency, lethal neonatal | AR |
| CPT2 | cpt ii deficiency, myopathic, stress-induced | AD, AR |
| CLCN2 | {epilepsy, idiopathic generalized, susceptibility to, 11} | AD |
| CLCN2 | {epilepsy, juvenile absence, susceptibility to, 2} | AD |
| CLCN2 | {epilepsy, juvenile myoclonic, susceptibility to, 8} | AD |
| CLCN2 | hyperaldosteronism, familial, type ii | AD |
| CLCN2 | leukoencephalopathy with ataxia | AR |
| MEF2C | chromosome 5q14.3 deletion syndrome | AD |
| MEF2C | mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | AD |
| PPT1 | ceroid lipofuscinosis, neuronal, 1 | AR |
| SDHA | cardiomyopathy, dilated, 1gg | |
| SDHA | leigh syndrome | AR, Mi |
| SDHA | mitochondrial respiratory chain complex ii deficiency | AR |
| SDHA | paragangliomas 5 | AD |
| CSTB | epilepsy, progressive myoclonic 1a (unverricht and lundborg) | AR |
| GAMT | cerebral creatine deficiency syndrome 2 | AR |
| NPC2 | niemann-pick disease, type c2 | AR |
| CASR | {epilepsy idiopathic generalized, susceptibility to, 8} | |
| CASR | hyperparathyroidism, neonatal | AD, AR |
| CASR | hypocalcemia, autosomal dominant | AD |
| CASR | hypocalcemia, autosomal dominant, with bartter syndrome | AD |
| CASR | hypocalciuric hypercalcemia, type i | AD |
| CACNA1A | epileptic encephalopathy, early infantile, 42 | AD |
| CACNA1A | episodic ataxia, type 2 | AD |
| CACNA1A | migraine, familial hemiplegic, 1 | AD |
| CACNA1A | migraine, familial hemiplegic, 1, with progressive cerebellar ataxia | AD |
| CACNA1A | spinocerebellar ataxia 6 | AD |
| STX1B | generalized epilepsy with febrile seizures plus, type 9 | AD |
| MTOR | focal cortical dysplasia, type ii, somatic | |
| MTOR | smith-kingsmore syndrome | AD |
| CACNB4 | {epilepsy, idiopathic generalized, susceptibility to, 9} | AD |
| CACNB4 | {epilepsy, juvenile myoclonic, susceptibility to, 6} | AD |
| CACNB4 | episodic ataxia, type 5 | AD |
| TBX1 | conotruncal anomaly face syndrome | |
| TBX1 | digeorge syndrome | AD |
| TBX1 | tetralogy of fallot | AD |
| TBX1 | velocardiofacial syndrome | AD |
| KMT2D | kabuki syndrome 1 | AD |
| NDUFS8 | mitochondrial complex i deficiency, nuclear type 2 | AR |
| CHD2 | epileptic encephalopathy, childhood-onset | AD |
| COX10 | leigh syndrome due to mitochondrial cox4 deficiency | AR, Mi |
| COX10 | mitochondrial complex iv deficiency | AR, Mi |
| NDUFA2 | ?mitochondrial complex i deficiency, nuclear type 13 | AR |
| NDUFS7 | mitochondrial complex i deficiency, nuclear type 3 | AR |
| UBE3A | angelman syndrome | AD |
| NDUFS4 | mitochondrial complex i deficiency, nuclear type 1 | AR |
| TUBA1A | lissencephaly 3 | AD |
| EEF1A2 | epileptic encephalopathy, early infantile, 33 | AD |
| EEF1A2 | mental retardation, autosomal dominant 38 | AD |
| SYNGAP1 | mental retardation, autosomal dominant 5 | AD |
| BCS1L | bjornstad syndrome | AR |
| BCS1L | gracile syndrome | AR |
| BCS1L | leigh syndrome | AR, Mi |
| BCS1L | mitochondrial complex iii deficiency, nuclear type 1 | AR |
| SCN9A | {dravet syndrome, modifier of} | AD |
| SCN9A | epilepsy, generalized, with febrile seizures plus, type 7 | AD |
| SCN9A | erythermalgia, primary | AD |
| SCN9A | febrile seizures, familial, 3b | AD |
| SCN9A | hsan2d, autosomal recessive | AR |
| SCN9A | insensitivity to pain, congenital | AR |
| SCN9A | paroxysmal extreme pain disorder | AD |
| SCN9A | small fiber neuropathy | AD |
| PLA2G6 | infantile neuroaxonal dystrophy 1 | AR |
| PLA2G6 | neurodegeneration with brain iron accumulation 2b | AR |
| PLA2G6 | parkinson disease 14, autosomal recessive | AR |
| SLC25A15 | hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SCN4A | hyperkalemic periodic paralysis, type 2 | AD |
| SCN4A | hypokalemic periodic paralysis, type 2 | AD |
| SCN4A | myasthenic syndrome, congenital, 16 | AR |
| SCN4A | myotonia congenita, atypical, acetazolamide-responsive | AD |
| SCN4A | paramyotonia congenita | AD |
| SCN10A | episodic pain syndrome, familial, 2 | AD |
| LGI1 | epilepsy, familial temporal lobe, 1 | AD |
| CNTNAP2 | {autism susceptibility 15} | |
| CNTNAP2 | cortical dysplasia-focal epilepsy syndrome | AR |
| CNTNAP2 | pitt-hopkins like syndrome 1 | AR |
| TSC1 | focal cortical dysplasia, type ii, somatic | |
| TSC1 | lymphangioleiomyomatosis | |
| TSC1 | tuberous sclerosis-1 | AD |
| TWNK | mitochondrial dna depletion syndrome 7 (hepatocerebral type) | AR |
| TWNK | perrault syndrome 5 | AR |
| TWNK | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 | AD |
| PANK2 | harp syndrome | AR |
| PANK2 | neurodegeneration with brain iron accumulation 1 | AR |
| SLC19A3 | thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
| CLN6 | ceroid lipofuscinosis, neuronal, 6 | AR |
| CLN6 | ceroid lipofuscinosis, neuronal, kufs type, adult onset | AR |
| HEXB | sandhoff disease, infantile, juvenile, and adult forms | AR |
| HEXA | [hex a pseudodeficiency] | AR |
| HEXA | gm2-gangliosidosis, several forms | AR |
| HEXA | tay-sachs disease | AR |
| COQ8A | coenzyme q10 deficiency, primary, 4 | AR |
| CLN3 | ceroid lipofuscinosis, neuronal, 3 | AR |
| ARSA | metachromatic leukodystrophy | AR |
| NPC1 | niemann-pick disease, type c1 | AR |
| NPC1 | niemann-pick disease, type d | AR |
| EPM2A | epilepsy, progressive myoclonic 2a (lafora) | AR |
| CACNA1H | {epilepsy, childhood absence, susceptibility to, 6} | |
| CACNA1H | {epilepsy, idiopathic generalized, susceptibility to, 6} | |
| CACNA1H | hyperaldosteronism, familial, type iv | AD |
| CLN8 | ceroid lipofuscinosis, neuronal, 8 | AR |
| CLN8 | ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | AR |
| TPP1 | ceroid lipofuscinosis, neuronal, 2 | AR |
| TPP1 | spinocerebellar ataxia, autosomal recessive 7 | AR |
| CLN5 | ceroid lipofuscinosis, neuronal, 5 | AR |
| NHLRC1 | epilepsy, progressive myoclonic 2b (lafora) | AR |
| KCNT1 | epilepsy, nocturnal frontal lobe, 5 | AD |
| KCNT1 | epileptic encephalopathy, early infantile, 14 | AD |
| NEU1 | sialidosis, type i | AR |
| NEU1 | sialidosis, type ii | AR |
| ARG1 | argininemia | AR |
| PRICKLE1 | epilepsy, progressive myoclonic 1b | AR |
| ARL13B | joubert syndrome 8 | AR |
| LRPPRC | leigh syndrome, french-canadian type | AR |
| BTD | biotinidase deficiency | AR |
| CPA6 | epilepsy, familial temporal lobe, 5 | AD, AR |
| CPA6 | febrile seizures, familial, 11 | AR |
| NAGLU | ?charcot-marie-tooth disease, axonal, type 2v | AD |
| NAGLU | mucopolysaccharidosis type iiib (sanfilippo b) | AR |
| COQ2 | {multiple system atrophy, susceptibility to} | AD, AR |
| COQ2 | coenzyme q10 deficiency, primary, 1 | AR |
| CEP290 | ?bardet-biedl syndrome 14 | AR |
| CEP290 | joubert syndrome 5 | AR |
| CEP290 | leber congenital amaurosis 10 | |
| CEP290 | meckel syndrome 4 | AR |
| CEP290 | senior-loken syndrome 6 | AR |
| HGSNAT | mucopolysaccharidosis type iiic (sanfilippo c) | AR |
| MFSD8 | ceroid lipofuscinosis, neuronal, 7 | AR |
| MBD5 | mental retardation, autosomal dominant 1 | AD |
| GLB1 | gm1-gangliosidosis, type i | AR |
| GLB1 | gm1-gangliosidosis, type ii | AR |
| GLB1 | gm1-gangliosidosis, type iii | AR |
| GLB1 | mucopolysaccharidosis type ivb (morquio) | AR |
| AKT3 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
| SLC46A1 | folate malabsorption, hereditary | AR |
| IRF2BPL | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | AD |
| ARSB | mucopolysaccharidosis type vi (maroteaux-lamy) | AR |
| CC2D2A | joubert syndrome 9 | AR |
| CC2D2A | meckel syndrome 6 | AR |
| QDPR | hyperphenylalaninemia, bh4-deficient, c | AR |
| TUBB2B | cortical dysplasia, complex, with other brain malformations 7 | AD |
| CTSA | galactosialidosis | AR |
| NF1 | leukemia, juvenile myelomonocytic | AD, SMu |
| NF1 | neurofibromatosis-noonan syndrome | AD |
| NF1 | neurofibromatosis, familial spinal | AD |
| NF1 | neurofibromatosis, type 1 | AD |
| NF1 | watson syndrome | AD |
| BOLA3 | multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
| DEPDC5 | epilepsy, familial focal, with variable foci 1 | AD |
| SZT2 | epileptic encephalopathy, early infantile, 18 | AR |
| HECW2 | neurodevelopmental disorder with hypotonia, seizures, and absent language | AD |
Metabolic Myopathies, Rhabdomyolysis, And Exercise Intolerance (83 Genes)
| Title | Phenotype | Inheritance |
|---|---|---|
| ALDOA | glycogen storage disease xii | AR |
| SLC25A4 | mitochondrial dna depletion syndrome 12a (cardiomyopathic type) ad | AD |
| SLC25A4 | mitochondrial dna depletion syndrome 12b (cardiomyopathic type) ar | AR |
| SLC25A4 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | AD |
| CACNA1S | {malignant hyperthermia susceptibility 5} | AD |
| CACNA1S | {thyrotoxic periodic paralysis, susceptibility to, 1} | AD |
| CACNA1S | hypokalemic periodic paralysis, type 1 | AD |
| COL13A1 | myasthenic syndrome, congenital, 19 | AR |
| ETFB | glutaric acidemia iib | AR |
| ENO3 | ?glycogen storage disease xiii | AR |
| TYMP | mitochondrial dna depletion syndrome 1 (mngie type) | AR |
| LDHA | glycogen storage disease xi | AR |
| POLG | mitochondrial dna depletion syndrome 4a (alpers type) | AR |
| POLG | mitochondrial dna depletion syndrome 4b (mngie type) | AR |
| POLG | mitochondrial recessive ataxia syndrome (includes sando and scae) | AR |
| POLG | progressive external ophthalmoplegia, autosomal dominant 1 | AD |
| POLG | progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| RYR1 | {malignant hyperthermia susceptibility 1} | AD |
| RYR1 | central core disease | AD, AR |
| RYR1 | king-denborough syndrome | AD |
| RYR1 | minicore myopathy with external ophthalmoplegia | AR |
| RYR1 | neuromuscular disease, congenital, with uniform type 1 fiber | AD, AR |
| TK2 | ?progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 | AR |
| TK2 | mitochondrial dna depletion syndrome 2 (myopathic type) | AR |
| ETFDH | glutaric acidemia iic | AR |
| CPT1A | cpt deficiency, hepatic, type ia | AR |
| CPT2 | {encephalopathy, acute, infection-induced, 4, susceptibility to} | AD, AR |
| CPT2 | cpt ii deficiency, infantile | AR |
| CPT2 | cpt ii deficiency, lethal neonatal | AR |
| CPT2 | cpt ii deficiency, myopathic, stress-induced | AD, AR |
| SLC16A1 | erythrocyte lactate transporter defect | AD |
| SLC16A1 | hyperinsulinemic hypoglycemia, familial, 7 | AD |
| SLC16A1 | monocarboxylate transporter 1 deficiency | AD, AR |
| DNA2 | ?seckel syndrome 8 | AR |
| DNA2 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 | AD |
| DYSF | miyoshi muscular dystrophy 1 | AR |
| DYSF | muscular dystrophy, limb-girdle, autosomal recessive 2 | AR |
| DYSF | myopathy, distal, with anterior tibial onset | AR |
| ATP5F1D | mitochondrial complex v (atp synthase) deficiency | AR |
| SLC22A5 | carnitine deficiency, systemic primary | AR |
| GYG1 | ?glycogen storage disease xv | AR |
| GYG1 | polyglucosan body myopathy 2 | AR |
| SUCLA2 | mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
| OPA1 | ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type) | |
| OPA1 | {glaucoma, normal tension, susceptibility to} | |
| OPA1 | behr syndrome | AR |
| OPA1 | optic atrophy 1 | AD |
| OPA1 | optic atrophy plus syndrome | AD |
| POLG2 | mitochondrial dna depletion syndrome 16 (hepatic type) | AR |
| POLG2 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 | AD |
| RRM2B | mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) | AR |
| RRM2B | mitochondrial dna depletion syndrome 8b (mngie type) | AR |
| RRM2B | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 | AD |
| LPIN1 | myoglobinuria, acute recurrent, autosomal recessive | AR |
| TWNK | mitochondrial dna depletion syndrome 7 (hepatocerebral type) | AR |
| TWNK | perrault syndrome 5 | AR |
| TWNK | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 | AD |
| FKRP | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 | AR |
| FKRP | muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 | AR |
| FKRP | muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 | AR |
| GAA | glycogen storage disease ii | AR |
| ACADS | acyl-coa dehydrogenase, short-chain, deficiency of | AR |
| COQ8A | coenzyme q10 deficiency, primary, 4 | AR |
| ACADM | acyl-coa dehydrogenase, medium chain, deficiency of | AR |
| FKTN | cardiomyopathy, dilated, 1x | AR |
| FKTN | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 | AR |
| FKTN | muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 | AR |
| FKTN | muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 | AR |
| GBE1 | glycogen storage disease iv | AR |
| GBE1 | polyglucosan body disease, adult form | AR |
| ETFA | glutaric acidemia iia | AR |
| ANO5 | muscular dystrophy, limb-girdle, autosomal recessive 12 | AR |
| PNPLA2 | neutral lipid storage disease with myopathy | AR |
| COQ2 | {multiple system atrophy, susceptibility to} | AD, AR |
| COQ2 | coenzyme q10 deficiency, primary, 1 | AR |
| ACADVL | vlcad deficiency | AR |
| PDSS2 | coenzyme q10 deficiency, primary, 3 | AR |
| PFKM | glycogen storage disease vii | AR |
| SLC25A32 | ?exercise intolerance, riboflavin-responsive | AR |
| ACAD9 | mitochondrial complex i deficiency, nuclear type 20 | AR |
| ISCU | myopathy with lactic acidosis, hereditary | AR |
| COQ9 | coenzyme q10 deficiency, primary, 5 | AR |
| SLC25A20 | carnitine-acylcarnitine translocase deficiency | AR |
| FDX2 | mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
| MGME1 | mitochondrial dna depletion syndrome 11 | AR |
| GMPPB | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | AR |
| GMPPB | muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | AR |
| GMPPB | muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | AR |
| CHCHD10 | ?myopathy, isolated mitochondrial, autosomal dominant | AD |
| CHCHD10 | frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
| CHCHD10 | spinal muscular atrophy, jokela type | AD |
| TANGO2 | metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| MECP2 | Retts syndrome | XLD |
| CTX (CYP27A1) | spinal xanthomatosis : hereditary spastic paraparesis.. eurological dysfunction, tendon xanthoma and early onset cataracts | AR |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| AMT | Late onset non-ketotic hyperglycinemia | AR |
| PHGDH | Serine deficiency / Phosphoglycerate dehydrogenase deficiency | AR |
| APTX | CoQ10 def | AR |
| PDSS2 | CoQ10 def | AR |
| CABC1(ADCK3) | CoQ10 def | AR |
| DLAT | Pyruvate dehydrogenase deficiency | AR |
| PDHX | Pyruvate dehydrogenase deficiency | AR |
| GCH1 | Segawa / Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | AD, AR |
| SLC6A3 | Dopamine transporter def syndrome | AR |
| PTS | PTPS def. / biopterin def. | AR |
| SPR | Sepiapterin reductacse def | AD, AR |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | AR |
| TH | Tyrosine hydroxylase def. | AR |
| ACAT1 | β-Ketothiolase deficiency | AR |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| ETHE1 | Ethylmalonic encephalopathy | AR |
| GCDH | Glutaricaciduria, type I | AR |
| IVD | Isovaleric academia | AR |
| HPRT1 | Lesch-Nyhan syndrome | XLR |
| SLC30A10 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) | AR |
| MOCS1 | Molybdenum cofactor deficiency A | AR |
| MOCS2 | Molybdenum cofactor deficiency B | AR |
| PNPO | Pyridoxamine 5’-phosphate oxidase deficiency | AR |
| ABCD1 | (X-Linked) Adrenoleukodystrophy | XLR |
| GIF | Congenital Intrinsic Factor Deficiency | AR |
| HMGCL | HMG-CoA lyase def | AR |
| CUBN | Immerslund-Grasbeck syndrome | AR |
| AMN | Immerslund-Grasbeck syndrome Megaloblastic anemia-1, Norwegian type | AR |
| HSD17B10 | HSD10 mitochondrial disease /MHBD def | XLD/ XLR |
| NAGS | N-acetylglutamate synthase deficiency | AR |
| ALDH7A1 | Pyridoxine dep epilepsy / Epilepsy, pyridoxine-dependent | AR |
| NT5C3 = NT5C3A | Anemia, hemolytic, due to UMPH1 deficiency Pyrimidine 5-Nucleotidase superactivitiy | AR |
| OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| ALDH3A2 | Sjogren-Larsson syndrome | AR |
| DHCR7 | Smith-Lemli-Opitz syndrome | AR |
| ATP7B | Wilson disease | AR |
| ITPA | [inosine triphosphatase deficiency] | |
| ITPA | epileptic encephalopathy, early infantile, 35 | AR |
| FOXG1 | rett syndrome, congenital variant | AD |
| PIK3CA | cowden syndrome 5 | |
| ATP1A3 | alternating hemiplegia of childhood 2 | AD |
| ATP1A3 | capos syndrome | AD |
| ATP1A3 | dystonia-12 | AD |
| SCN2A | epileptic encephalopathy, early infantile, 11 | AD |
| SCN2A | seizures, benign familial infantile, 3 | AD |
| KCNA2 | epileptic encephalopathy, early infantile, 32 | AD |
| ARX | epileptic encephalopathy, early infantile, 1 | XLR |
| ARX | hydranencephaly with abnormal genitalia | XL |
| ARX | lissencephaly, x-linked 2 | XL |
| ARX | mental retardation, x-linked 29 and others | XLR |
| ARX | partington syndrome | XLR |
| ARX | proud syndrome | XL |
| PIGA | multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
| GABRB2 | epileptic encephalopathy, infantile or early childhood, 2 | AD |
| SLC1A2 | epileptic encephalopathy, early infantile, 41 | AD |
| SCN8A | ?myoclonus, familial, 2 | AD |
| SCN8A | cognitive impairment with or without cerebellar ataxia | AD |
| SCN8A | epileptic encephalopathy, early infantile, 13 | AD |
| SCN8A | seizures, benign familial infantile, 5 | AD |
| NPRL3 | epilepsy, familial focal, with variable foci 3 | AD |
| PTEN | {glioma susceptibility 2} | |
| PTEN | {meningioma} | AD |
| PTEN | cowden syndrome 1 | AD |
| PTEN | lhermitte-duclos syndrome | AD |
| PTEN | macrocephaly/autism syndrome | AD |
| KCNQ3 | seizures, benign neonatal, 2 | AD |
| DNM1 | epileptic encephalopathy, early infantile, 31 | AD |
| KCNQ2 | epileptic encephalopathy, early infantile, 7 | AD |
| KCNQ2 | myokymia | AD |
| KCNQ2 | seizures, benign neonatal, 1 | AD |
| AP3B2 | epileptic encephalopathy, early infantile, 48 | AR |
| GRIN2D | epileptic encephalopathy, early infantile, 46 | AD |
| STXBP1 | epileptic encephalopathy, early infantile, 4 | AD |
| HCN1 | epileptic encephalopathy, early infantile, 24 | AD |
| HCN1 | generalized epilepsy with febrile seizures plus, type 10 | AD |
| AIMP1 | leukodystrophy, hypomyelinating, 3 | AR |
| WWOX | epileptic encephalopathy, early infantile, 28 | AR |
| WWOX | spinocerebellar ataxia, autosomal recessive 12 | AR |
| ARFGEF2 | periventricular heterotopia with microcephaly | AR |
| SUOX | sulfite oxidase deficiency | AR |
| NPRL2 | epilepsy, familial focal, with variable foci 2 | AD |
| SATB2 | glass syndrome | AD |
| SLC13A5 | epileptic encephalopathy, early infantile, 25 | AR |
| SLC25A22 | epileptic encephalopathy, early infantile, 3 | AR |
| DEPDC5 | epilepsy, familial focal, with variable foci 1 | AD |
| PRRT2 | convulsions, familial infantile, with paroxysmal choreoathetosis | AD |
| PRRT2 | episodic kinesigenic dyskinesia 1 | AD |
| PRRT2 | seizures, benign familial infantile, 2 | AD |
| BRAT1 | neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
| BRAT1 | rigidity and multifocal seizure syndrome, lethal neonatal | AR |
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