Term Name: | neuronal ceroid lipofuscinosis 4 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0110720] ( DOID:0110720 ) |