Search Ontology:
Human Disease
neuronal ceroid lipofuscinosis 4
- Term ID
- DOID:0110720
- Synonyms
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- autosomal dominant neuronal ceroid lipofuscinosis 4B
- CLN4B disease
- neuronal ceroid lipofuscinosis 4 Parry type
- neuronal ceroid lipofuscinosis 4B
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. (2)
- References
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- ICD10CM:E75.4
- MIM:162350
- ORDO:228343
- Ontology
- Human Disease ( DOID:0110720 )
- is a type of
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Genes Involved
Zebrafish Models