Brain and nervous system

The brain and nervous system form a complex network of signals that carry information (in the form of electrical impulses) to and from the body. Several disorders that directly affect the nervous system have a genetic component.

• A-alphalipoprotein Neuropathy see Tangier disease
• A-T see ataxia-telangiectasia
• AADC deficiency see aromatic l-amino acid decarboxylase deficiency
• AASA dehydrogenase deficiency see pyridoxine-dependent epilepsy
• AB variant see GM2-gangliosidosis, AB variant
• abetalipoproteinemia
• ACADS deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• acanthocytosis see abetalipoproteinemia
• acanthocytosis with neurologic disorder see chorea-acanthocytosis
• ACCPN see Andermann syndrome
• aceruloplasminemia
• Activator Deficiency/GM2 Gangliosidosis see GM2-gangliosidosis, AB variant
• Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant
• ACY2 deficiency see Canavan disease
• AD see Alzheimer disease
• ADLTE see autosomal dominant partial epilepsy with auditory features
• ADPEAF see autosomal dominant partial epilepsy with auditory features
• Adrenoleukodystrophy see X-linked adrenoleukodystrophy
• Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
• AGA deficiency see aspartylglucosaminuria
• agenesis of corpus callosum with neuronopathy see Andermann syndrome
• agenesis of corpus callosum with peripheral neuropathy see Andermann syndrome
• agenesis of corpus callosum with polyneuropathy see Andermann syndrome
• ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
• Alexander disease
• Allan-Herndon-Dudley syndrome
• Allan-Herndon syndrome see Allan-Herndon-Dudley syndrome
• Alpha-fucosidase deficiency see fucosidosis
• Alpha-galactosidase A deficiency see Fabry disease
• alpha High Density Lipoprotein Deficiency Disease see Tangier disease
• Alpha-L-iduronidase deficiency see mucopolysaccharidosis type I
• ALS see amyotrophic lateral sclerosis
• ALX see Alexander disease
• Alzheimer disease
• Aminoacylase 2 deficiency see Canavan disease
• Amish lethal microcephaly
• amyotrophic lateral sclerosis
• Analphalipoproteinemia see Tangier disease
• Andermann syndrome
• Anderson-Fabry Disease see Fabry disease
• Angelman syndrome
• Angiokeratoma Corporis Diffusum see Fabry disease
• Angiokeratoma diffuse see Fabry disease
• Angiomatosis retinae see von Hippel-Lindau syndrome
• Apolipoprotein B deficiency see abetalipoproteinemia
• aromatic l-amino acid decarboxylase deficiency
• ARSA deficiency see metachromatic leukodystrophy
• ARSACS see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• Arylsulfatase A Deficiency Disease see metachromatic leukodystrophy
• AS see Angelman syndrome
• Asp deficiency see Canavan disease
• Aspa deficiency see Canavan disease
• Aspartoacylase deficiency see Canavan disease
• aspartylglucosamidase deficiency see aspartylglucosaminuria
• Aspartylglucosaminidase deficiency see aspartylglucosaminuria
• aspartylglucosaminuria
• ataxia-telangiectasia
• Ataxia with Lactic Acidosis, Type II see pyruvate carboxylase deficiency
• ataxia with oculomotor apraxia
• ataxia with vitamin E deficiency
• ATM see ataxia-telangiectasia
• Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome see Rett syndrome
• Autosomal Dominant Hereditary Spastic Paraplegia see spastic paraplegia type 4
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
• autosomal dominant partial epilepsy with auditory features
• Autosomal Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 7; Troyer syndrome
• autosomal recessive spastic ataxia of Charlevoix-Saguenay
• AVED see ataxia with vitamin E deficiency
• AxD see Alexander disease
• B variant GM2 gangliosidosis see Tay-Sachs disease
• Baltic myoclonic epilepsy see Unverricht-Lundborg disease
• Baltic myoclonus see Unverricht-Lundborg disease
• BANF see neurofibromatosis type 2
• Bartholin-Patau syndrome see trisomy 13
• basal ganglia disease, adult-onset see neuroferritinopathy
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BCKD deficiency see maple syrup urine disease
• BDLS see Cornelia de Lange syndrome
• benign essential tremor see essential tremor
• Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• Beuren syndrome see Williams syndrome
• BH4 Deficiency see tetrahydrobiopterin deficiency
• Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
• BIOT see biotinidase deficiency
• biotinidase deficiency
• Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
• Bloch-Siemens syndrome see incontinentia pigmenti
• Bloch-Sulzberger Syndrome see incontinentia pigmenti
• Bloom syndrome
• Bourneville Disease see tuberous sclerosis
• Bourneville Phakomatosis see tuberous sclerosis
• Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
• Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
• Branched-Chain Ketoaciduria see maple syrup urine disease
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• BTD deficiency see biotinidase deficiency
• Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
• CACH syndrome see leukoencephalopathy with vanishing white matter
• CACT deficiency see carnitine-acylcarnitine translocase deficiency
• CADASIL see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• Camurati-Engelmann disease
• Canavan disease
• Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
• Cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
• cardiofaciocutaneous syndrome
• carnitine-acylcarnitine translocase deficiency
• Cat cry syndrome see cri-du-chat syndrome
• CATCH22 see 22q11.2 deletion syndrome
• CAVE complex see Pallister-Hall syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CCHS see congenital central hypoventilation syndrome
• CDLS see Cornelia de Lange syndrome
• CED see Camurati-Engelmann disease
• Central Nervous System Cavernous Hemangioma see cerebral cavernous malformation
• Central Neurofibromatosis see neurofibromatosis type 2
• cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
• Ceramide trihexosidase deficiency see Fabry disease
• Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
• cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• cerebral cavernous malformation
• Cerebral gigantism see Sotos syndrome
• cerebral sclerosis see tuberous sclerosis
• cerebral sclerosis, diffuse, metachromatic form see metachromatic leukodystrophy
• cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
• Cerebroatrophic Hyperammonemia see Rett syndrome
• Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
• Cerebrooculorenal Syndrome see Lowe syndrome
• Cerebroside Lipidosis Syndrome see Gaucher disease
• Cerebroside Sulphatase Deficiency Disease see metachromatic leukodystrophy
• cerebrotendinous xanthomatosis
• CFC syndrome see cardiofaciocutaneous syndrome
• CHAC see chorea-acanthocytosis
• Charcot disease see amyotrophic lateral sclerosis
• Charcot-Marie-Tooth disease
• CHARGE syndrome
• Charlevoix disease see Andermann syndrome
• Charlevoix-Saguenay spastic ataxia see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• childhood ataxia with central nervous system hypomyelination see leukoencephalopathy with vanishing white matter
• Cholesterol thesaurismosis see Tangier disease
• chorea-acanthocytosis
• Choreoacanthocytosis see chorea-acanthocytosis
• Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
• chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
• chromosome 4p monosomy see Wolf-Hirschhorn syndrome
• Chromosome 5p- Syndrome see cri-du-chat syndrome
• chromosome 17p deletion syndrome see Smith-Magenis syndrome
• chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• CINCA see neonatal onset multisystem inflammatory disease
• CIT see citrullinemia
• citrullinemia
• Classic Galactosemia see galactosemia
• classic lissencephaly see X-linked lissencephaly
• Classical Niemann-Pick Disease see Niemann-Pick disease
• CLS see Coffin-Lowry syndrome
• CMT see Charcot-Marie-Tooth disease
• Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
• Cockayne syndrome
• Coffin-Lowry syndrome
• Cohen syndrome
• Complete HPRT deficiency see Lesch-Nyhan syndrome
• Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• Complete trisomy 13 syndrome see trisomy 13
• Complete trisomy 18 syndrome see trisomy 18
• compression neuropathy see hereditary neuropathy with liability to pressure palsies
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital central hypoventilation syndrome
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• Copper storage disease see Wilson disease
• Copper transport disease see Menkes syndrome
• Cornelia de Lange syndrome
• CRASH syndrome see L1 syndrome
• Creatine deficiency, cerebral see guanidinoacetate methyltransferase deficiency
• creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency
• Cree leukoencephalopathy see leukoencephalopathy with vanishing white matter
• cri-du-chat syndrome
• Cross-McKusick syndrome see Troyer syndrome
• CS see Cockayne syndrome
• CTX see cerebrotendinous xanthomatosis
• DAF syndrome see Niemann-Pick disease
• DAT see Alzheimer disease
• DDC deficiency see aromatic l-amino acid decarboxylase deficiency
• De Lange Syndrome see Cornelia de Lange syndrome
• De Vivo disease see GLUT1 deficiency syndrome
• Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
• Deficiency of glutathione synthase see glutathione synthetase deficiency
• Deficiency of glutathione synthetase see glutathione synthetase deficiency
• Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
• Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
• 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
• del(4p) syndrome see Wolf-Hirschhorn syndrome
• 4p Deletion Syndrome see Wolf-Hirschhorn syndrome
• 5p Deletion Syndrome see cri-du-chat syndrome
• deletion 17p syndrome see Smith-Magenis syndrome
• 22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome
• demyelinogenic leukodystrophy see Alexander disease
• dentatorubral-pallidoluysian atrophy
• Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
• DGSX see Simpson-Golabi-Behmel syndrome
• DHMN-V see distal hereditary motor neuropathy, type V
• Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
• diaphyseal hyperostosis see Camurati-Engelmann disease
• Diffuse Globoid Body Sclerosis see Krabbe disease
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• distal hereditary motor neuropathy, type V
• dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase deficiency
• dopamine beta-hydroxylase deficiency
• Down syndrome
• DRPLA see dentatorubral-pallidoluysian atrophy
• DSMAV see distal hereditary motor neuropathy, type V
• Dwarf, thanatophoric see thanatophoric dysplasia
• Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
• dysmyelinogenic leukodystrophy see Alexander disease
• Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism
• dystonia musculorum deformans see X-linked dystonia-parkinsonism
• Dystonia musculorum deformans 1 see early-onset primary dystonia
• Dystonia-parkinsonism, X-linked see X-linked dystonia-parkinsonism
• Dystrophia myotonica see myotonic dystrophy
• DYT1 see early-onset primary dystonia
• DYT3 see X-linked dystonia-parkinsonism
• EA see episodic ataxia
• EAOH see ataxia with oculomotor apraxia
• early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
• Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
• early-onset primary dystonia
• Edwards Syndrome see trisomy 18
• Elfin Facies Syndrome see Williams syndrome
• Elfin facies with hypercalcemia see Williams syndrome
• Emanuel syndrome
• EME see ethylmalonic encephalopathy
• encephalopathy due to GLUT1 deficiency see GLUT1 deficiency syndrome
• Encephalopathy, petechiae, and ethylmalonic aciduria see ethylmalonic encephalopathy
• Engelmann's Disease see Camurati-Engelmann disease
• entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
• EPD see pyridoxine-dependent epilepsy
• EPEMA syndrome see ethylmalonic encephalopathy
• Epilepsy, partial, with auditory features see autosomal dominant partial epilepsy with auditory features
• epilepsy, pyridoxine-dependent see pyridoxine-dependent epilepsy
• Epiloia see tuberous sclerosis
• Epimerase deficiency galactosemia see galactosemia
• episodic ataxia
• EPM1 see Unverricht-Lundborg disease
• Erythermalgia see erythromelalgia
• erythromelalgia
• essential tremor
• ethylmalonic encephalopathy
• ETL1 see autosomal dominant partial epilepsy with auditory features
• FA see Friedreich ataxia
• Fabry disease
• Familial Acoustic Neuromas see neurofibromatosis type 2
• familial Alzheimer disease (FAD) see Alzheimer disease
• familial apoceruloplasmin deficiency see aceruloplasminemia
• Familial Cavernous Hemangioma see cerebral cavernous malformation
• Familial Cavernous Malformation see cerebral cavernous malformation
• Familial Cerebral Cavernous Angioma see cerebral cavernous malformation
• Familial Cerebral Cavernous Malformation see cerebral cavernous malformation
• familial dysautonomia
• familial encephalopathy with neuroserpin inclusion bodies
• familial hemiplegic migraine
• Familial High Density Lipoprotein Deficiency Disease see Tangier disease
• Familial Hypoalphalipoproteinemia see Tangier disease
• Familial hypobetalipoproteinemia see abetalipoproteinemia
• familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
• familial nodular heterotopia see periventricular heterotopia
• familial paroxysmal nonkinesigenic dyskinesia
• familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
• familial tremor see essential tremor
• Familial vascular leukoencephalopathy see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• FCMD see Fukuyama congenital muscular dystrophy
• FD see familial dysautonomia
• FENIB see familial encephalopathy with neuroserpin inclusion bodies
• ferritin-related neurodegeneration see neuroferritinopathy
• FG syndrome
• fibrinoid degeneration of astrocytes see Alexander disease
• FIVE see ataxia with vitamin E deficiency
• Folling Disease see phenylketonuria
• fra(X) syndrome see fragile X syndrome
• fragile X syndrome
• FRAXA Syndrome see fragile X syndrome
• FRDA see Friedreich ataxia
• free sialic acid storage disease see sialic acid storage disease
• Friedreich ataxia
• Friedreich ataxia phenotype with selective vitamin E deficiency see ataxia with vitamin E deficiency
• Friedreich-like ataxia see ataxia with vitamin E deficiency
• Fucosidase deficiency see fucosidosis
• fucosidosis
• Fukuyama congenital muscular dystrophy
• fumarase deficiency
• fumarate hydratase deficiency see fumarase deficiency
• fumaric aciduria see fumarase deficiency
• FXS see fragile X syndrome
• GA I see glutaric acidemia type I
• Galactokinase Deficiency Disease see galactosemia
• Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
• Galactose epimerase deficiency see galactosemia
• galactosemia
• Galactosylceramidase Deficiency Disease see Krabbe disease
• Galactosylceramide lipidosis see Krabbe disease
• galactosylcerebrosidase deficiency see Krabbe disease
• galactosylsphingosine lipidosis see Krabbe disease
• GALC deficiency see Krabbe disease
• GALT Deficiency see galactosemia
• Gamma-hydroxybutyric acidemia see succinic semialdehyde dehydrogenase deficiency
• gamma-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
• GAMT deficiency see guanidinoacetate methyltransferase deficiency
• GAN see giant axonal neuropathy
• Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
• Gaucher disease
• GCL see Krabbe disease
• GD see Gaucher disease
• giant axonal neuropathy
• GLA deficiency see Fabry disease
• GLD see Krabbe disease
• Glucocerebrosidase deficiency see Gaucher disease
• Glucocerebrosidosis see Gaucher disease
• glucose transport defect, blood-brain barrier see GLUT1 deficiency syndrome
• glucose transporter protein syndrome see GLUT1 deficiency syndrome
• glucose transporter type 1 deficiency syndrome see GLUT1 deficiency syndrome
• Glucosyl cerebroside lipidosis see Gaucher disease
• Glucosylceramidase deficiency see Gaucher disease
• Glucosylceramide beta-glucosidase deficiency see Gaucher disease
• Glucosylceramide lipidosis see Gaucher disease
• GLUT1 deficiency syndrome
• glutaric acidemia type I
• Glutaryl-CoA dehydrogenase deficiency see glutaric acidemia type I
• glutathione synthetase deficiency
• glycine encephalopathy
• glycosylasparaginase deficiency see aspartylglucosaminuria
• GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
• GM2-gangliosidosis, AB variant
• GM2 gangliosidosis, type 1 see Tay-Sachs disease
• GM2 gangliosidosis, type 2 see Sandhoff disease
• GM2 Gangliosidosis, Type II see Sandhoff disease
• Greenfield Disease see metachromatic leukodystrophy
• Greig cephalopolysyndactyly syndrome
• GTPS see GLUT1 deficiency syndrome
• guanidinoacetate methyltransferase deficiency
• 3HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• Haddad syndrome see congenital central hypoventilation syndrome
• Hall-Hittner syndrome see CHARGE syndrome
• Hall-Pallister syndrome see Pallister-Hall syndrome
• Haw River syndrome see dentatorubral-pallidoluysian atrophy
• HDL Lipoprotein Deficiency Disease see Tangier disease
• Hemiplegic Migraine, Familial see familial hemiplegic migraine
• Hemiplegic-ophthalmoplegic migraine see familial hemiplegic migraine
• Hepatolenticular degeneration syndrome see Wilson disease
• Hereditary Autosomal Dominant Spastic Paraplegia see spastic paraplegia type 3A; spastic paraplegia type 4
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• Hereditary dystopic lipidosis see Fabry disease
• hereditary essential tremor see essential tremor
• hereditary ferritinopathy see neuroferritinopathy
• hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
• hereditary motor and sensory neuropathy with agenesis of the corpus callosum see Andermann syndrome
• hereditary motor neuronopathy see spinal muscular atrophy
• hereditary neuropathy with liability to pressure palsies
• hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
• Hereditary Spastic Paraplegia
• Hereditary spinal ataxia see Friedreich ataxia
• Hereditary Spinal Sclerosis see Friedreich ataxia
• Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2
• HexA deficiency see Tay-Sachs disease
• Hexosaminidase A and B Deficiency Disease see Sandhoff disease
• Hexosaminidase A deficiency see Tay-Sachs disease
• Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
• Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
• 2-HGA see 2-hydroxyglutaric aciduria
• Hippel-Lindau Disease see von Hippel-Lindau syndrome
• Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
• HLCS deficiency see holocarboxylase synthetase deficiency
• HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• HMN V see distal hereditary motor neuropathy, type V
• HMSN see Charcot-Marie-Tooth disease
• HMSN/ACC see Andermann syndrome
• HNPP see hereditary neuropathy with liability to pressure palsies
• holocarboxylase synthetase deficiency
• HSAN Type III see familial dysautonomia
• HSAN3 see familial dysautonomia
• HSN-III see familial dysautonomia
• Hunter Syndrome see mucopolysaccharidosis type II
• Huntington disease
• Huntington disease-like syndrome
• Hurler-Scheie Syndrome see mucopolysaccharidosis type I
• Hurler Syndrome see mucopolysaccharidosis type I
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
• 4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
• 2-hydroxyglutaric aciduria
• Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
• Hyperglycinemia, Nonketotic see glycine encephalopathy
• Hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
• Hyperphenylalaninemia, Non-Phenylketonuric see tetrahydrobiopterin deficiency
• hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
• hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
• hypoceruloplasminemia see aceruloplasminemia
• Hypocupremia, Congenital see Menkes syndrome
• hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
• Hypotonia, obesity, and prominent incisors see Cohen syndrome
• hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome
• I2S deficiency see mucopolysaccharidosis type II
• IAHSP see infantile-onset ascending hereditary spastic paralysis
• IBMPFD see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• IDUA deficiency see mucopolysaccharidosis type I
• Iduronate 2-sulfatase deficiency see mucopolysaccharidosis type II
• INAD see infantile neuroaxonal dystrophy
• inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• incontinentia pigmenti
• Infantile hypercalcemia see Williams syndrome
• infantile leukoencephalopathy and megalencephaly see megalencephalic leukoencephalopathy with subcortical cysts
• Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• infantile neuroaxonal dystrophy
• infantile-onset ascending hereditary spastic paralysis
• infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
• Inherited Human Transmissible Spongiform Encephalopathies see prion disease
• inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
• Intracerebral Cavernous Hemangioma see cerebral cavernous malformation
• IOMID syndrome see neonatal onset multisystem inflammatory disease
• IP see incontinentia pigmenti
• JPLS see juvenile primary lateral sclerosis
• Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
• Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
• juvenile primary lateral sclerosis
• KD see spinal and bulbar muscular atrophy
• Keller syndrome see FG syndrome
• Kennedy disease see spinal and bulbar muscular atrophy
• Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
• Kerasin histiocytosis see Gaucher disease
• Kerasin lipoidosis see Gaucher disease
• Kerasin thesaurismosis see Gaucher disease
• Ketoacidemia see maple syrup urine disease
• Kinky Hair Syndrome see Menkes syndrome
• Krabbe disease
• L1 syndrome
• Lacunar Dementias see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• Lenz microphthalmia syndrome
• Lesch-Nyhan syndrome
• Leukodystrophy, spongiform see Canavan disease
• leukodystrophy with Rosenthal fibers see Alexander disease
• leukoencephalopathy with swelling and a discrepantly mild course see megalencephalic leukoencephalopathy with subcortical cysts
• leukoencephalopathy with swelling and cysts see megalencephalic leukoencephalopathy with subcortical cysts
• leukoencephalopathy with vanishing white matter
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
• Lipoid histiocytosis (kerasin type) see Gaucher disease
• Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
• lissencephaly and agenesis of corpus callosum see X-linked lissencephaly
• lissencephaly type 1 see X-linked lissencephaly
• lissencephaly, X-linked see X-linked lissencephaly
• LISX see X-linked lissencephaly
• LNS see Lesch-Nyhan syndrome
• Long QT syndrome with syndactyly see Timothy syndrome
• Lou Gehrig Disease see amyotrophic lateral sclerosis
• Louis-Bar syndrome see ataxia-telangiectasia
• Lowe syndrome
• Lower motor neuron degeneration with Paget-like bone disease see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• LQT8 see Timothy syndrome
• Lubag see X-linked dystonia-parkinsonism
• Lundborg-Unverricht syndrome see Unverricht-Lundborg disease
• LVM see megalencephalic leukoencephalopathy with subcortical cysts
• 3MGA see 3-methylglutaconic aciduria
• MAA see Lenz microphthalmia syndrome
• Malonic aciduria see malonyl-coenzyme A decarboxylase deficiency
• malonyl-CoA decarboxylase deficiency see malonyl-coenzyme A decarboxylase deficiency
• malonyl-coenzyme A decarboxylase deficiency
• maple syrup urine disease
• Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
• Marinesco-Sjögren syndrome
• Marker X syndrome see fragile X syndrome
• Martin-Bell Syndrome see fragile X syndrome
• MASA syndrome see L1 syndrome
• MCD deficiency see malonyl-coenzyme A decarboxylase deficiency
• McLeod neuroacanthocytosis syndrome
• MCOPS1 see Lenz microphthalmia syndrome
• MCPHA see Amish lethal microcephaly
• Mediterranean myoclonic epilepsy see Unverricht-Lundborg disease
• megalencephalic leukoencephalopathy with subcortical cysts
• MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Menkea syndrome see Menkes syndrome
• Menkes syndrome
• Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum see FG syndrome
• mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
• Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
• mental retardation, X-linked, with hypotonia see Allan-Herndon-Dudley syndrome
• MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
• metachromatic leukodystrophy
• 3-methylglutaconic aciduria
• microcephaly, Amish type see Amish lethal microcephaly
• Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial neurogastrointestinal encephalopathy disease
• MK see Menkes syndrome
• MLC see megalencephalic leukoencephalopathy with subcortical cysts
• MLD see metachromatic leukodystrophy
• MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
• MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• MNK see Menkes syndrome
• monocarboxylate transporter 8 (MCT8) deficiency see Allan-Herndon-Dudley syndrome
• monosomy 4p see Wolf-Hirschhorn syndrome
• monosomy 5p see cri-du-chat syndrome
• 17p11.2 monosomy see Smith-Magenis syndrome
• Motor Neuron Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
• Mount-Reback syndrome see familial paroxysmal nonkinesigenic dyskinesia
• Mowat-Wilson syndrome
• MPS I see mucopolysaccharidosis type I
• MPS II see mucopolysaccharidosis type II
• MSS see Marinesco-Sjögren syndrome
• MSUD see maple syrup urine disease
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• Multi-Infarct Dementia see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
• Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
• Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, limb-girdle, with Paget disease of bone see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• MWS see Mowat-Wilson syndrome
• myelinosis centralis diffusa see leukoencephalopathy with vanishing white matter
• myoclonic epilepsy of Unverricht and Lundborg see Unverricht-Lundborg disease
• Myoclonic epilepsy with choreoathetosis see dentatorubral-pallidoluysian atrophy
• Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Myotonia atrophica see myotonic dystrophy
• Myotonia dystrophica see myotonic dystrophy
• myotonic dystrophy
• N-acetylneuraminic acid storage disease see sialic acid storage disease
• Naito-Oyanagi disease see dentatorubral-pallidoluysian atrophy
• NANA storage disease see sialic acid storage disease
• NARP see neuropathy, ataxia, and retinitis pigmentosa
• Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• NBIA, PLA2G6-related see infantile neuroaxonal dystrophy
• NBIA1 see pantothenate kinase-associated neurodegeneration
• neonatal onset multisystem inflammatory disease
• Neuroacanthocytosis see chorea-acanthocytosis
• Neuroaxonal Dystrophy, Juvenile see infantile neuroaxonal dystrophy
• Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
• Neuroaxonal Dystrophy, Late Infantile see infantile neuroaxonal dystrophy
• Neurodegeneration with brain iron accumulation, PLA2G6-related see infantile neuroaxonal dystrophy
• Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
• neuroferritinopathy
• neurofibromatosis type 1
• neurofibromatosis type 2
• neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• neuronopathy, distal hereditary motor, type V see distal hereditary motor neuropathy, type V
• neuropathy, ataxia, and retinitis pigmentosa
• neuropathy, giant axonal see giant axonal neuropathy
• NF1 see neurofibromatosis type 1
• NF2 see neurofibromatosis type 2
• NHD see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Niemann-Pick disease
• NKH see glycine encephalopathy
• NOD see dentatorubral-pallidoluysian atrophy
• NOMID see neonatal onset multisystem inflammatory disease
• non-ketotic hyperglycinemia see glycine encephalopathy
• Non-Phenylketonuric Hyperphenylalaninemia see tetrahydrobiopterin deficiency
• Nonketotic Hyperglycinemia see glycine encephalopathy
• nonkinesigenic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
• noradrenaline deficiency see dopamine beta-hydroxylase deficiency
• norepinephrine deficiency see dopamine beta-hydroxylase deficiency
• Norio syndrome see Cohen syndrome
• NPD see Niemann-Pick disease
• obesity-hypotonia syndrome see Cohen syndrome
• Oculocerebrorenal Syndrome see Lowe syndrome
• Oculogastrointestinal muscular dystrophy see mitochondrial neurogastrointestinal encephalopathy disease
• OGIMD see mitochondrial neurogastrointestinal encephalopathy disease
• 3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• OKS see FG syndrome
• Ondine-Hirschsprung disease see congenital central hypoventilation syndrome
• Ondine Syndrome see congenital central hypoventilation syndrome
• Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
• Opitz G/BBB syndrome
• Opitz-Kaveggia syndrome see FG syndrome
• Oppenheim dystonia see early-onset primary dystonia
• 5-oxoprolinemia see glutathione synthetase deficiency
• 5-oxoprolinuria see glutathione synthetase deficiency
• Pagetoid amyotrophic lateral sclerosis see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Pagetoid neuroskeletal syndrome see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• PAH deficiency see phenylketonuria
• Pallister-Hall syndrome
• pantothenate kinase-associated neurodegeneration
• Parkinson disease
• paroxysmal dystonic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
• paroxysmal nonkinesigenic dyskinesia see familial paroxysmal nonkinesigenic dyskinesia
• partial monosomy 4p see Wolf-Hirschhorn syndrome
• partial monosomy 17p see Smith-Magenis syndrome
• Patau syndrome see trisomy 13
• PC deficiency see pyruvate carboxylase deficiency
• PD see Parkinson disease
• PDC see familial paroxysmal nonkinesigenic dyskinesia
• PDD see Camurati-Engelmann disease
• PDE see pyridoxine-dependent epilepsy
• Pelizaeus-Merzbacher disease
• Pepper syndrome see Cohen syndrome
• Peripheral Neurofibromatosis see neurofibromatosis type 1
• periventricular heterotopia
• Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
• Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
• phenylketonuria
• Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
• PHS see Pallister-Hall syndrome
• PKAN see pantothenate kinase-associated neurodegeneration
• PKU see phenylketonuria
• PLO-SL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• PLOSL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• PLSJ see juvenile primary lateral sclerosis
• PMA see Charcot-Marie-Tooth disease
• PMD see Pelizaeus-Merzbacher disease
• PME see Unverricht-Lundborg disease
• PNKD see familial paroxysmal nonkinesigenic dyskinesia
• PNPO Deficiency see pyridoxal 5'-phosphate-dependent epilepsy
• PNPO-Related Neonatal Epileptic Encephalopathy see pyridoxal 5'-phosphate-dependent epilepsy
• POLIP see mitochondrial neurogastrointestinal encephalopathy disease
• polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction see mitochondrial neurogastrointestinal encephalopathy disease
• Portuguese polyneuritic amyloidosis see transthyretin amyloidosis
• Portuguese type familial amyloid neuropathy see transthyretin amyloidosis
• Presenile and senile dementia see Alzheimer disease
• Presenile dementia with bone cysts see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
• primary erythromelalgia see erythromelalgia
• Primary hyperuricemia syndrome see Lesch-Nyhan syndrome
• primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis
• Primary Parkinsonism see Parkinson disease
• Primary Senile Degenerative Dementia see Alzheimer disease
• Primary torsion dystonia see early-onset primary dystonia
• prion disease
• Progeria-Like Syndrome see Cockayne syndrome
• progeroid nanism see Cockayne syndrome
• Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
• Progressive Muscular Atrophy see spinal muscular atrophy
• progressive myoclonic epilepsy see Unverricht-Lundborg disease
• progressive myoclonus epilepsy 1 see Unverricht-Lundborg disease
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• psychosine lipidosis see Krabbe disease
• pyridoxal 5'-phosphate-dependent epilepsy
• pyridoxamine 5-prime-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
• pyridoxine-5'-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine Dependency see pyridoxine-dependent epilepsy
• pyridoxine-dependent epilepsy
• pyroglutamic acidemia see glutathione synthetase deficiency
• pyroglutamic aciduria see glutathione synthetase deficiency
• pyruvate carboxylase deficiency
• Recklinghausen Disease, Nerve see neurofibromatosis type 1
• Rett syndrome
• Riley-Day Syndrome see familial dysautonomia
• RSH Syndrome see Smith-Lemli-Opitz syndrome
• RSS see Russell-Silver syndrome
• RSTS see Rubinstein-Taybi syndrome
• RTS see Rett syndrome; Rubinstein-Taybi syndrome
• RTT see Rett syndrome
• Rubinstein-Taybi syndrome
• Russell-Silver syndrome
• SADDAN
• Sandhoff disease
• SBMA see spinal and bulbar muscular atrophy
• SCAD deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• SCADH deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• SCAN2 see ataxia with oculomotor apraxia
• SCAR1 see ataxia with oculomotor apraxia
• Scheie Syndrome see mucopolysaccharidosis type I
• Schilder-Addison Complex see X-linked adrenoleukodystrophy
• Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
• sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
• sclerosis tuberosa see tuberous sclerosis
• SDAT see Alzheimer disease
• SDYS see Simpson-Golabi-Behmel syndrome
• Sedlackova syndrome see 22q11.2 deletion syndrome
• Seitelberger disease see infantile neuroaxonal dystrophy
• Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
• SGBS see Simpson-Golabi-Behmel syndrome
• short-chain acyl-coenzyme A dehydrogenase deficiency
• Shprintzen syndrome see 22q11.2 deletion syndrome
• sialic acid storage disease
• sialuria, Finnish type see sialic acid storage disease
• Silver-Russell Dwarfism see Russell-Silver syndrome
• Silver-Russell syndrome see Russell-Silver syndrome
• Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• Simpson syndrome see Simpson-Golabi-Behmel syndrome
• Skeleton-skin-brain syndrome see SADDAN
• SLO syndrome see Smith-Lemli-Opitz syndrome
• SLOS see Smith-Lemli-Opitz syndrome
• SMA see spinal muscular atrophy
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• SMS see Smith-Magenis syndrome
• Sotos syndrome
• spastic ataxia, Charlevoix-Saguenay type see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• spastic ataxia of Charlevoix-Saguenay see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
• spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome
• spastic paraplegia 20, autosomal recessive see Troyer syndrome
• spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome
• spastic paraplegia type 2
• spastic paraplegia type 3A
• spastic paraplegia type 4
• spastic paraplegia type 7
• SPG1 see L1 syndrome
• SPG20 see Troyer syndrome
• SPG3A see spastic paraplegia type 3A
• Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
• Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
• Sphingomyelin lipidosis see Niemann-Pick disease
• Sphingomyelinase deficiency see Niemann-Pick disease
• spinal and bulbar muscular atrophy
• spinal muscular atrophy
• spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V
• spinal muscular atrophy, distal, with upper limb predominance see distal hereditary motor neuropathy, type V
• Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
• spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
• spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
• Spongy degeneration of central nervous system see Canavan disease
• Spongy degeneration of the brain see Canavan disease
• Spongy degeneration of white matter in infancy see Canavan disease
• SRS see Russell-Silver syndrome
• SSADH deficiency see succinic semialdehyde dehydrogenase deficiency
• SSB syndrome see SADDAN
• Steely Hair Syndrome see Menkes syndrome
• succinic semialdehyde dehydrogenase deficiency
• Sulfatide Lipidosis see metachromatic leukodystrophy
• Sulfatidosis see metachromatic leukodystrophy
• Supernumary der(22) syndrome see Emanuel syndrome
• Supernumary der(22)t(11;22) syndrome see Emanuel syndrome
• Supernumary derivative 22 chromosome syndrome see Emanuel syndrome
• Supravalvar aortic stenosis syndrome see Williams syndrome
• Swiss type amyloid polyneuropathy see transthyretin amyloidosis
• 4p- syndrome see Wolf-Hirschhorn syndrome
• 5p- Syndrome see cri-du-chat syndrome
• 17p- syndrome see Smith-Magenis syndrome
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• Tangier disease
• Tay-Sachs disease
• Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
• Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
• tetra-amelia syndrome
• tetrahydrobiopterin deficiency
• thanatophoric dysplasia
• Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
• Timothy syndrome
• tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
• Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism
• Total hexosaminidase deficiency see Sandhoff disease
• Total HPRT deficiency see Lesch-Nyhan syndrome
• Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
• Transmissible Dementias see prion disease
• Transmissible Spongiform Encephalopathies see prion disease
• transthyretin amyloidosis
• trisomy 13
• trisomy 18
• Trisomy 21 see Down syndrome
• Troyer syndrome
• TS see Timothy syndrome
• TSD see Tay-Sachs disease
• TSEs see prion disease
• tuberose sclerosis see tuberous sclerosis
• tuberous sclerosis
• type I familial amyloid polyneuropathy see transthyretin amyloidosis
• type II familial amyloid polyneuropathy see transthyretin amyloidosis
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• ULD see Unverricht-Lundborg disease
• Unverricht-Lundborg disease
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• vacuolating leukoencephalopathy see megalencephalic leukoencephalopathy with subcortical cysts
• vacuolating megalencephalic leukoencephalopathy with subcortical cysts see megalencephalic leukoencephalopathy with subcortical cysts
• Van Bogaert-Bertrand syndrome see Canavan disease
• Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
• Van der Knapp disease see megalencephalic leukoencephalopathy with subcortical cysts
• vanishing white matter leukodystrophy see leukoencephalopathy with vanishing white matter
• VCFS see 22q11.2 deletion syndrome
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• VHL syndrome see von Hippel-Lindau syndrome
• vitamin B6-dependent seizures see pyridoxine-dependent epilepsy
• Vitamin E Deficiency see ataxia with vitamin E deficiency
• VL see megalencephalic leukoencephalopathy with subcortical cysts
• Von Bogaert-Bertrand disease see Canavan disease
• von Hippel-Lindau syndrome
• von Recklinghausen Disease see neurofibromatosis type 1
• WBS see Williams syndrome
• WD see Wilson disease
• WHS see Wolf-Hirschhorn syndrome
• Williams syndrome
• Wilson disease
• WMS see Williams syndrome
• Wolf-Hirschhorn syndrome
• WS see Williams syndrome
• X-ALD see X-linked adrenoleukodystrophy
• X-linked adrenoleukodystrophy
• X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome
• X-linked copper deficiency see Menkes syndrome
• X-linked corpus callosum agenesis see L1 syndrome
• X-linked dystonia-parkinsonism
• X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
• X-linked hyperuricemia see Lesch-Nyhan syndrome
• X-linked lissencephaly
• X-linked mental retardation and macroorchidism see fragile X syndrome
• X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
• X-linked primary hyperuricemia see Lesch-Nyhan syndrome
• X linked Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 2
• X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
• X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
• Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
• XDP see X-linked dystonia-parkinsonism
• XLIS see X-linked lissencephaly
• 47,XX,+21 see Down syndrome
• 47,XY,+21 see Down syndrome