Visualize Submit Comment
Metadata
ID DOID:0110727
Name neuronal ceroid lipofuscinosis 13
Definition A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
https://www.ncbi.nlm.nih.gov/pubmed/23297359
Xrefs

ICD10CM:E75.4

OMIM:615362

ORDO:352709

Subsets

DO_rare_slim

Synonyms

CLN13 [EXACT]

neuronal ceroid lipofuscinosis 13 Kufs type [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

is_a autosomal recessive disease

Add an item to the term tracker