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Metadata
ID DOID:0110729
Name neuronal ceroid lipofuscinosis 6A
Definition A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/15996215
Xrefs

GARD:1224

ICD10CM:E75.4

OMIM:601780

ORDO:228363

Subsets

DO_rare_slim

Synonyms

CLN6 [EXACT]

neuronal ceroid lipofuscinosis 6 [EXACT]

neuronal ceroid lipofuscinosis 6 variable age of onset [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

is_a autosomal recessive disease

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