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Disease Ontology Browser
neuronal ceroid lipofuscinosis 4B (DOID:0110720)
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Synonyms: autosomal dominant neuronal ceroid lipofuscinosis 4B; CLN4B disease; neuronal ceroid lipofuscinosis 4 Parry type
Alt IDs: OMIM:162350, ICD10CM:E75.4, ORDO:228343
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.

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MGI 6.14
The Jackson Laboratory