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Mitochondrial complex IV deficiency;Congenital disorder of glycosylation, type IIj;Congenital disorder of glycosylation, type IIl;Shaheen syndrome;Congenital disorder of glycosylation, type IIh;
Leigh syndrome due to mitochondrial COX4 deficiency;Mitochondrial complex IV deficiency;Mitochondrial complex IV deficiency;
Mitochondrial complex IV deficiency;?Cytochrome c oxidase deficiency;Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11;
Cold-induced sweating syndrome;Joubert syndrome 21;Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg);Cerebroretinal microangiopathy with calcifications and cysts;
Leukoencephalopathy with ataxia;{Epilepsy, idiopathic generalized, susceptibility to, 11};{Epilepsy, juvenile absence, susceptibility to, 2};{Epilepsy, juvenile myoclonic, susceptibility to, 8};
Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1;{Autism susceptibility 15};
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle;Brain small vessel disease with Axenfeld-Rieger anomaly;Brain small vessel disease with hemorrhage;Porencephaly 1;{Hemorrhage, intracerebral, susceptibility to};
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome due to cytochrome c oxidase deficiency;
Carbamoylphosphate synthetase I deficiency;{Pulmonary hypertension, neonatal, susceptibility to};
CPT deficiency, hepatic, type II;CPT II deficiency, lethal neonatal;Myopathy due to CPT II deficiency;{Encephalopathy, acute, infection-induced, 4, susceptibility to};
Ceroid lipofuscinosis, neuronal, 10;Ceroid lipofuscinosis, neuronal, 13, Kufs type;Mental retardation, X-linked, syndromic 15 (Cabezas type);Cerebrotendinous xanthomatosis;Vitamin D-dependent rickets, type I;D-2-hydroxyglutaric aciduria;Maple syrup urine disease, type II;Lissencephaly, X-linked;Subcortical laminal heteropia, X-linked;Epilepsy, familial focal, with variable foci;Megaloblastic anemia due to dihydrofolate reductase deficiency;Becker muscular dystrophy;Cardiomyopathy, dilated, 3B;Duchenne muscular dystrophy;Ceroid lipofuscinosis, neuronal, 4, Parry type;Early infantile epileptic encephalopathy-31Adams-Oliver syndrome 2;" Epileptic encephalopathy, early infantile, 23"Congenital disorder of glycosylation, type Im;Microcephaly, short stature, and limb abnormalities; Microcephaly-micromelia syndrome
Congenital disorder of glycosylation, type Ie;Congenital disorder of glycosylation, type Iu;5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency;Dihydropyrimidinuria;
Combined oxidative phosphorylation deficiency 14;?Mitochondrial complex IV deficiency;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);Isolated familial hypoparathyroidism
Fragile X syndrome;Fragile X tremor/ataxia syndrome;Premature ovarian failure 1;Neurodegeneration due to cerebral folate transport deficiency;Rett syndrome, congenital variant;Growth retardation, developmental delay, coarse facies, and early death;Fucosidosis;
{Epilepsy, childhood absence, susceptibility to, 5};
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations;
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5;
Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;
Cardiac valvular dysplasia, X-linked;Congenital short bowel syndrome;FG syndrome 2;Frontometaphyseal dysplasia;Heterotopia, periventricular;Heterotopia, periventricular, ED variant;Intestinal pseudoobstruction, neuronal;Melnick-Needles syndrome;Otopalatodigital syndrome, type I;Otopalatodigital syndrome, type II;Terminal osseous dysplasia;
{Epilepsy, childhood absence, susceptibility to, 4};{Epilepsy, juvenile myoclonic, susceptibility to, 5};
Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8;{Epilepsy, childhood absence, susceptibility to, 2};
Atrial septal defect 9;Atrioventricular septal defect 5;Pancreatic agenesis and congenital heart defects;Persistent truncus arteriosus;Tetralogy of Fallot;
Gaucher disease, perinatal lethal;Gaucher disease, type I;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, type IIIC;{Lewy body dementia, susceptibility to};{Parkinson disease, late-onset, susceptibility to};
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B;
Diabetes mellitus, gestational;Diabetes mellitus, noninsulin-dependent, late onset;Diabetes mellitus, permanent neonatal;Hyperinsulinemic hypoglycemia, familial, 3;MODY, type II;
Hyperekplexia, hereditary 1, autosomal dominant or recessive;Hyperinsulinism-hyperammonemia syndrome;Glutamine deficiency, congenital;D-glyceric aciduria;GM2-gangliosidosis, AB variant;
Epileptic encephalopathy, early infantile, 17;Epilepsy, progressive myoclonic 6;Molybdenum cofactor deficiency C;Polymicrogyria, bilateral frontoparietal;Mental retardation, X-linked 94;Epilepsy, focal, with speech disorder and with or without mental retardation;Early epileptic encephalopathy/West syndrome
"Combined oxidative phosphorylation deficiency 23"Spastic paraplegia and psychomotor retardation with or without seizures
3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4;Neutropenia, severe congenital 3, autosomal recessive;Linear skin defects with multiple congenital anomalies 1
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type );"Epileptic encephalopathy, early infantile, 24"Cornelia de Lange syndrome 5Neurodevelopmental disorder with hypotonia, seizures, and absent language
Septooptic dysplasia;
GM1-gangliosidosis, type I;GM1-gangliosidosis, type II;GM1-gangliosidosis, type III;Mucopolysaccharidosis type IVB (Morquio);
Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly, postaxial, types A1 and B;Polydactyly, preaxial, type IV;{Hypothalamic hamartomas, somatic};
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14;
Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental ret;
GM2-gangliosidosis, several forms;Tay-Sachs disease;[Hex A pseudodeficiency];Sandhoff disease, infantile, juvenile, and adult forms;Mucopolysaccharidosis type IIIC (Sanfilippo C);Holocarboxylase synthetase deficiency;Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant;Epileptic encephalopathy; Intellectual disabilities, CNS anomalies and seizuresHawkinsinuria;Tyrosinemia, type III;
D-bifunctional protein deficiency;Perrault syndrome 1;Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, autosomal dominant;D-2-hydroxyglutaric aciduria 2;Microcephaly, epilepsy, and diabetes syndrome;Dysautonomia, familial;Ectodermal dysplasia, hypohidrotic, with immune deficiency; Ectodermal, dysplasia, anhidroti
Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis;
Mental retardation, X-linked 1;
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Epileptic encephalopathy, early infantile, 35; Inosine triphosphatase deficiencyIsovaleric acidemia;Hemorrhagic destruction of the brain, subependymal calcification, and cataracts;Childhood absence epilepsyKoolen-De Vries syndrome;Epileptic encephalopathyEarly onset epileptic encephalopathy"Epilepsy, progressive myoclonic 7""Temple-Baraitser syndrome"
Cavernous malformations of CNS and retina;Cerebral cavernous malformations-1;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformat;
Corpus callosum, partial agenesis of;CRASH syndrome;Hydrocephalus due to aqueductal stenosis;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;Hydrocephalus with Hirschsprung disease;MASA syndrome;
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6;
IFAP syndrome with or without BRESHECK syndrome;Keratosis follicularis spinulosa decalvans, X-linked;
3-Methylcrotonyl-CoA carboxylase 1 deficiency;Epileptic encephalopathy, early infantile, 51
Microcephaly, postnatal progressive, with seizures and brain atrophy;
Encephalopathy due to defective mitochondrial and peroxisomal fission 2Ceroid lipofuscinosis, neuronal, 7;Congenital disorder of glycosylation, type IIa;Megalencephalic leukoencephalopathy with subcortical cysts;Malonyl-CoA decarboxylase deficiency;Methylmalonic aciduria and homocystinuria, cblC type;
Molybdenum cofactor deficiency A;Molybdenum cofactor deficiency B;Congenital disorder of glycosylation, type IIb;Congenital disorder of glycosylation, type If;Hydrocephalus, nonsyndromic, autosomal recessive 2;
Craniosynostosis, type 2;Parietal foramina 1;Parietal foramina with cleidocranial dysplasia;
Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Leigh syndrome due to mitochondrial complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Leigh syndrome;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex 1 deficiency;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;
Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Leigh syndrome;Mitochondrial complex I deficiency;Complex I, mitochondrial respiratory chain, deficiency of;Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Early infantile epileptic encephalopathy-21Sialidosis, type I;Sialidosis, type II;?Congenital disorder of glycosylation, type Iv;Epilepsy, progressive myoclonic 2B (Lafora);Seckel syndrome 7;Cornelia de Lange syndrome 1;
Niemann-Pick disease, type C1;Niemann-Pick disease, type D;Niemann-pick disease, type C2;Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1;Epilepsy, familial focal, with variable foci 2Epilepsy, familial focal, with variable foci 3Pitt-Hopkins-like syndrome 2;{Schizophrenia, susceptibility to, 17};Beckwith-Wiedemann syndrome;Leukemia, acute myeloid;Sotos syndrome 1;CHILD syndrome;CK syndrome;Mitochondrial complex I deficiency;Band-like calcification with simplified gyration and polymicrogyria;Dent disease 2;Lowe syndrome;
Optic atrophy 1;Optic atrophy plus syndrome;{Glaucoma, normal tension, susceptibility to};
Mental retardation, autosomal recessive 53CHIME syndrome;Glycosylphosphatidylinositol deficiency;Multiple congenital anomalies-hypotonia-seizures syndrome 1;?Epileptic encephalopathy, early infantile, 55Hyperphosphatasia with mental retardation syndrome 1;Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Epileptic encephalopathy, early infantile, 12;Congenital disorder of glycosylation, type Ia;Epileptic encephalopathy, early infantile, 10;Pyridoxamine 5-prime-phosphate oxidase deficiencyWhite-Sutton syndrome
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8;
Infantile neuroaxonal dystrophy 1;Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14;
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;Progressive external ophthalmoplegia, autosomal recessive;
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;
Obesity, adrenal insufficiency, and red hair due to POMC deficiency;{Obesity, early-onset, susceptibility to};
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3;
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1;
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;
Phosphoserine aminotransferase deficiency;Basal cell carcinoma, somatic;Basal cell nevus syndrome;Holoprosencephaly-7;Hypoparathyroidism, autosomal dominant;Hypoparathyroidism, autosomal recessive;Hyperphenylalaninemia, BH4-deficient, A;"Mental retardation, autosomal dominant 31""Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy"Hyperphenylalaninemia, BH4-deficient, C;Warburg micro syndrome 3;Griscelli syndrome, type 2;Mental retardation, X-linked 72;Cornelia de Lange syndrome 4;Smith-Magenis syndrome;Pontocerebellar hypoplasia, type 6;Congenital disorder of glycosylation, type In;Aicardi-Goutieres syndrome 4;Aicardi-Goutieres syndrome 2;Aicardi-Goutieres syndrome 3;Leukoencephalopathy, cystic, without megalencephaly;Kohlschutter-Tonz syndrome;Epilepsy and intellectual disability (PMID: 24355400)
Polymicrogyria with seizures;Spastic ataxia, Charlevoix-Saguenay typeAicardi-Goutieres syndrome 5;Chilblain lupus 2;Glass syndrome;Epilepsy, progressive myoclonic 4, with or without renal failure;
Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Metachromatic leukodystrophy due to SAP-b deficiency;
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;
Dravet syndrome;Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A;Migraine, familial hemiplegic, 3;
Atrial fibrillation, familial, 13;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1;
Cognitive impairment with or without cerebellar ataxia;Epileptic encephalopathy, early infantile, 13;
Epilepsy, generalized, with febrile seizures plus, type 7;Erythermalgia, primary;Febrile seizures, familial, 3B;Insensitivity to pain, channelopathy-associated;Paroxysmal extreme pain disorder;Small fiber neuropathy;{Dravet syndrome, modifier of};
Cardiomyopathy, dilated, 1GG;Leigh syndrome;Mitochondrial respiratory chain complex II deficiency;Paragangliomas 5;
Mitochondrial complex II deficiency;Pontocerebellar hypoplasia type 2D;Encephalopathy, familial, with neuroserpin inclusion bodies;Schinzel-Giedion midface retraction syndrome;Phelan-McDermid syndrome;{Schizophrenia 15};
Epileptic encephalopathy, early infantile, 30Holoprosencephaly-2;Schizensephaly;Epileptic encephalopathy, early infantile, 34Agenesis of the corpus callosum with peripheral neuropathy;"Epileptic encephalopathy, early infantile, 25"Erythrocyte lactate transporter defect;Hyperinsulinemic hypoglycemia, familial, 7;Salla disease;Sialic acid storage disorder, infantile;
Dicarboxylic aminoaciduriaEpileptic encephalopathy, early infantile, 41Episodic ataxia, type 6;Spastic tetraplegia, thin corpus callosum, and progressive microcephalyMyoclonic-atonic epilepsyBasal ganglia cancification, idiopathic, 1;Combined D-2- and L-2-hydroxyglutaric aciduria;Hypomyelination, global cerebral;Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome;Carnitine-acylcarnitine translocase deficiency;Epileptic encephalopathy, early infantile, 3;
Congenital disorder of glycosylation, type IIm;Intellectual developmental disorder with neuropsychiatric featuresFolate malabsorption, hereditary;Cerebral creatine deficiency syndrome 1;Mental retardation, X-linked syndromic, Christianson type;?{Autism susceptibility 16};Nicolaides-Baraitser syndrome;
Mental retardation, autosomal dominant 16;Rhabdoid tumor predisposition syndrome 2;Mental retardation, autosomal dominant 15{Meningioma, familial, susceptibility to};Cornelia de Lange syndrome 2;Cornelia de Lange syndrome 3;Mental retardation, X-linked, Snyder-Robinson type;
Holoprosencephaly-3;Microphthalmia with coloboma 5;Schizencephaly;Single median maxillary central incisor;
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2);
Psychomotor retardation, epilepsy, and craniofacial dysmorphism;ZTTK syndromeEpilepsy, hearing loss, and mental retardation syndromeEpileptic encephalopathy, early infantile, 5;Rolandic epilepsy, mental retardation, and speech dyspraxia;
Epileptic encephalopathy, early infantile, 15;Mental retardation, autosomal recessive 12;Amish infantile epilepsy syndrome;Intellectual disability, microcephaly and epilepsy (PMID: 28119487)Microcephaly-capillary malformation syndrome;Polyhydramnios, megalencephaly, and symptomatic epilepsy;?Congenital disorder of glycosylation, type Iw"Generalized epilepsy with febrile seizures plus, type 9"Epileptic encephalopathy, early infantile, 4;
Multiple sulfatase deficiency;Leigh syndrome, due to COX deficiency;Epilepsy, X-linked, with variable learning disabilities and behavior disorders;Mental retardation, autosomal dominant 5;Epileptic encephalopathy, early infantile, 53; Parkinson disease 20, early-onsetMental retardation, X-linked 96;Epileptic encephalopathy, early infantile, 18;Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, aWarburg micro syndrome 4;
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumHypoparathyroidism-retardation-dysmorphism syndrome;Kenny-Caffey syndrome-1;Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Pitt-Hopkins syndrome;Joubert syndrome 13;Joubert syndrome 18;Orofaciodigital syndrome IV;3-methylglutaconic aciduria, type IXMitochondrial DNA depletion syndrome 2 (myopathic type);Joubert syndrome 16;Joubert syndrome 2;Meckel syndrome 2;Joubert syndrome 2;Meckel syndrome, type 11;Joubert syndrome 14;
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria);
Conotruncal anomaly face syndrome;DiGeorge syndrome;Tetralogy of Fallot;Velocardiofacial syndrome;
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Lissencephaly 8Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7;Encephalopathy, progressive, early-onset, with brain atrophy and spasticityNasu-Hakola disease;
Microcephaly, developmental delay, and epilepsyHypomagnesemia 1, intestinal;
Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2;Pontocerebellar hypoplasia type 2B;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4;
Lissencephaly 3;Polymicrogyria with optic nerve hypoplasia;"Cortical dysplasia, complex, with other brain malformations 5 "Polymicrogyria, symmetric or asymmetric;
Cortical dysplasia, complex, with other brain malformations 4;Nasu-Hakola disease;
Epileptic encephalopathy, early infantile, 44; ?Spinocerebellar ataxia, autosomal recessive 24Mental retardation, X-linked syndromic, Nascimento-type;Angelman syndrome;Hypotonia, infantile, with psychomotor retardation and characteristic facies 2Beta-ureidopropionase deficiency;Choreoacanthocytosis;Pontocerebellar hypoplasia, type 2ESkraban-Deardorff syndromeNeurodegeneration with brain iron accululation 5;Microcephaly 2, primary, autosomal recessive, with or without cortical malformations;
Early infantile epileptic encephalopathy-28McLeod syndrome with or without chronic granulomatous disease;Epileptic encephalopathy, early infantile, 56?Mental retardation, autosomal dominant 22;
Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;Vasculopathy, retinal, with cerebral leukodystrophy;{Systemic lupus erythematosus, susceptibility to};
Focal cortical dysplasia, Taylor balloon cell type;Lymphangioleiomyomatosis;Tuberous sclerosis-1;