OBO ID: DOID:0110720
Term Name: neuronal ceroid lipofuscinosis 4B Search Ontology:
Synonyms:
  • autosomal dominant neuronal ceroid lipofuscinosis 4B
  • CLN4B disease
  • neuronal ceroid lipofuscinosis 4 Parry type
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:
Ontology: Human Disease   (DOID:0110720)
OTHER neuronal ceroid lipofuscinosis 4B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None