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Metadata
ID DOID:0110720
Name neuronal ceroid lipofuscinosis 4
Definition A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13.
https://www.ncbi.nlm.nih.gov/pubmed/21820099, https://www.ncbi.nlm.nih.gov/pubmed/22073189
Xrefs

ICD10CM:E75.4

MIM:162350

ORDO:228343

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

is_a autosomal dominant disease

is_a neuronal ceroid lipofuscinosis

Subclass Logical Relationships

disease has feature some cerebellar ataxia

has symptom some seizure

has material basis in some autosomal dominant inheritance

disease has feature some subjective cognitive decline

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