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Human Disease

neuronal ceroid lipofuscinosis 4

Term ID
DOID:0110720
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models