Rare Disease Library

Eosinophilic gastroenteritis

EGE · Eosinophilic enteritis

Ataxia-tapetoretinal degeneration syndrome

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Autosomal dominant striatal neurodegeneration

ADSD

Autosomal recessive degenerative and progressive cerebellar ataxia

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Cochleosaccular degeneration-cataract syndrome

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive spastic paraplegia type 79

Fatal post-viral neurodegenerative disorder

Fatty acid hydroxylase-associated neurodegeneration

FAHN

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome

Frontotemporal neurodegeneration with movement disorder

Genetic frontotemporal degeneration with dementia

Genetic neurodegenerative disease

Genetic neurodegenerative disease with dementia

Helicoid peripapillary chorioretinal degeneration

Sveinsson chorioretinal atrophy · Atrophia areata

Hypertrophic olivary degeneration

HOD

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Dykes-Marks-Harper syndrome

Infantile cerebellar-retinal degeneration

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome · HPDL-related Leigh-like encephalopathy

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Axonal neuropathy-optic atrophy-cognitive deficit syndrome · ANOAC

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

Miscellaneous movement disorder due to genetic neurodegenerative disease

Miscellaneous movement disorder due to neurodegenerative disease

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

Neurodegeneration with brain iron accumulation

NBIA

Neurodegenerative disease with chorea

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

Nodular regenerative hyperplasia of the liver

Non-cirrhotic nodulation

Non-hereditary degenerative ataxia

OBSOLETE: Aregenerative anemia

OBSOLETE: Corticobasal degeneration

OBSOLETE: Disease predisposing to age-related macular degeneration

OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features

OBSOLETE: Heredodegenerative disease with dystonia as a major feature

OBSOLETE: Infantile striatothalamic degeneration