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Metadata
ID DOID:0110723
Name neuronal ceroid lipofuscinosis 8
Definition A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
https://www.ncbi.nlm.nih.gov/pubmed/15024724, https://www.ncbi.nlm.nih.gov/pubmed/15074367, https://www.ncbi.nlm.nih.gov/pubmed/15965709
Xrefs

ICD10CM:E75.4

OMIM:600143

ORDO:228354

Synonyms

CLN8 [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

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