Term Name: | neuronal ceroid lipofuscinosis 8 |
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Synonyms: | CLN8 |
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. |
Ontology: | Human Disease [DOID:0110723] ( DOID:0110723 ) |