| Metadata | |
|---|---|
| ID | DOID:0110720 |
| Name | neuronal ceroid lipofuscinosis 4 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/21820099, https://www.ncbi.nlm.nih.gov/pubmed/22073189 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant neuronal ceroid lipofuscinosis 4B [EXACT] CLN4B disease [EXACT] neuronal ceroid lipofuscinosis 4 Parry type [EXACT] neuronal ceroid lipofuscinosis 4B [EXACT] |
| Parent Relationships |