|
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
| |
|