neuronal ceroid lipofuscinosis 13

Term ID

DOID:0110727

Synonyms

• CLN13
• neuronal ceroid lipofuscinosis 13 Kufs type

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

References

• ICD10CM:E75.4
• OMIM:615362
• ORDO:352709

Ontology

Human Disease   ( DOID:0110727 )