OBO ID: DOID:0110720
Term Name: neuronal ceroid lipofuscinosis 4 Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0110720 )
OTHER neuronal ceroid lipofuscinosis 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAJC5 Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant 162350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None