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Abbreviations
Adult
CADASIL
Pediatric
3-methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
6p25 deletion
Aceruloplasminemia
acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Adult onset autosomal dominant leukodystrophy
Alpha-methylacetoacetic aciduria
Amyotrophic lateral sclerosis
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Axenfeld-Rieger
Bannayan Riley Ruvalcaba
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Christianson
Coffin-Lowry
Congenital disorder of glycosylation, type Ia
Cowden
COXPD12
D-2 hydroxyglutaric aciduria
Dystonia with cerebellar atrophy
EAOH
Ectodermal dysplasia
EMPF1
Enterovirus D68
Episodic Ataxia 2
Ethylmalonic encephalopathy
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Fucosidosis
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
HDLS
HHHH
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
IBGC1
Kufor-Rakeb
Leukoencephalopathy with Ataxia
Lissencephaly, X linked
Machado Joseph
Mannosidosis
MC1DN21
Mitochondrial depletion
Mitochondrial DNA Depletion syndrome 1
Molybdenum cofactor deficiency
Mucolipidosis type IV
Multiple Acyl-CoA dehydrogenase deficiency
Multiple sclerosis
Multiple system atrophy
Myotonic dystrophy 1
Myotonic dystrophy 2
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neurofibromatosis type 1
Neuronal ceroid lipofuscinosis 2
Niemann Pick
PCWH
PEBAT
Phosphoglycerate dehydrogenase deficiency
PLOSL1
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 2D
Progressive external ophthalmoplegia, AD
Revesz
Ribose 5-phosphate isomerase deficiency
SANDO
SCAN2
SCO2
SENER
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Sulfite oxidase deficiency
Tubulinopathies
Unverricht Lundborg
Vitamin E, familial isolated deficiency of
Wolfram
Woodhouse-Sakati
Contact us
Metabolic Brain
Home
Disease list
Our team
Bibliography
Related apps
Abbreviations
Adult
CADASIL
Pediatric
3-methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
6p25 deletion
Aceruloplasminemia
acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Adult onset autosomal dominant leukodystrophy
Alpha-methylacetoacetic aciduria
Amyotrophic lateral sclerosis
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Axenfeld-Rieger
Bannayan Riley Ruvalcaba
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Christianson
Coffin-Lowry
Congenital disorder of glycosylation, type Ia
Cowden
COXPD12
D-2 hydroxyglutaric aciduria
Dystonia with cerebellar atrophy
EAOH
Ectodermal dysplasia
EMPF1
Enterovirus D68
Episodic Ataxia 2
Ethylmalonic encephalopathy
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Fucosidosis
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
HDLS
HHHH
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
IBGC1
Kufor-Rakeb
Leukoencephalopathy with Ataxia
Lissencephaly, X linked
Machado Joseph
Mannosidosis
MC1DN21
Mitochondrial depletion
Mitochondrial DNA Depletion syndrome 1
Molybdenum cofactor deficiency
Mucolipidosis type IV
Multiple Acyl-CoA dehydrogenase deficiency
Multiple sclerosis
Multiple system atrophy
Myotonic dystrophy 1
Myotonic dystrophy 2
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neurofibromatosis type 1
Neuronal ceroid lipofuscinosis 2
Niemann Pick
PCWH
PEBAT
Phosphoglycerate dehydrogenase deficiency
PLOSL1
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 2D
Progressive external ophthalmoplegia, AD
Revesz
Ribose 5-phosphate isomerase deficiency
SANDO
SCAN2
SCO2
SENER
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Sulfite oxidase deficiency
Tubulinopathies
Unverricht Lundborg
Vitamin E, familial isolated deficiency of
Wolfram
Woodhouse-Sakati
Contact us
More
Home
Disease list
Our team
Bibliography
Related apps
Abbreviations
Adult
CADASIL
Pediatric
3-methylcrotonyl CoA carboxylase deficiency
3-Methylglutaconic aciduria, type I
3-Methylglutaconic aciduria, type IV
6p25 deletion
Aceruloplasminemia
acute infection-induced encephalopathy-3
Acute necrotizing encephalitis
Adult onset autosomal dominant leukodystrophy
Alpha-methylacetoacetic aciduria
Amyotrophic lateral sclerosis
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Axenfeld-Rieger
Bannayan Riley Ruvalcaba
CEMCOX1
Cerebellar ataxia, Cayman type
Cerebrotendinous xanthomatosis
Charcot Marie Tooth, X-linked
Christianson
Coffin-Lowry
Congenital disorder of glycosylation, type Ia
Cowden
COXPD12
D-2 hydroxyglutaric aciduria
Dystonia with cerebellar atrophy
EAOH
Ectodermal dysplasia
EMPF1
Enterovirus D68
Episodic Ataxia 2
Ethylmalonic encephalopathy
Familial adult myoclonic epilepsy 3
Familial hemiplegic migraine
Fragile X
Fragile X tremor / ataxia
Fucosidosis
Gerstmann Straussler
Giant axonal neuropathy
Glutaric acidemia I
HDLS
HHHH
Hyperornithinemia - Hyperammonemia - Homocitrullinuria
Hyperphenylalaninemia
Hypomelanosis of Ito
IBGC1
Kufor-Rakeb
Leukoencephalopathy with Ataxia
Lissencephaly, X linked
Machado Joseph
Mannosidosis
MC1DN21
Mitochondrial depletion
Mitochondrial DNA Depletion syndrome 1
Molybdenum cofactor deficiency
Mucolipidosis type IV
Multiple Acyl-CoA dehydrogenase deficiency
Multiple sclerosis
Multiple system atrophy
Myotonic dystrophy 1
Myotonic dystrophy 2
NARP
NBIA 3
NBIA 4
NBIA 5
NBIA 6
Neurofibromatosis type 1
Neuronal ceroid lipofuscinosis 2
Niemann Pick
PCWH
PEBAT
Phosphoglycerate dehydrogenase deficiency
PLOSL1
Polyglucosan body neuropathy, adult form
Pontocerebellar hypoplasia, Type 2D
Progressive external ophthalmoplegia, AD
Revesz
Ribose 5-phosphate isomerase deficiency
SANDO
SCAN2
SCO2
SENER
Sotos
Spastic ataxia, Charlevoix-Saguenay type
Spastic paraplegia
Spastic paraplegia 2
Spastic paraplegia 11
Spastic paraplegia 35
Spinal muscular atrophy
Spinocerebellar ataxia 2
Spinocerebellar ataxia 6
Spinocerebellar ataxia 31
Sulfite oxidase deficiency
Tubulinopathies
Unverricht Lundborg
Vitamin E, familial isolated deficiency of
Wolfram
Woodhouse-Sakati
Contact us
Carbamoyl phosphate synthetase deficiency
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