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Metadata
ID DOID:0110721
Name neuronal ceroid lipofuscinosis 1
Definition A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/pubmed/7637805
Xrefs

GARD:1219

ICD10CM:E75.4

OMIM:256730

ORDO:228329

Subsets

DO_rare_slim

Synonyms

CLN1 [EXACT]

neuronal ceroid lipofuscinosis 1 variable age of onset [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

is_a autosomal recessive disease

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