neuronal ceroid lipofuscinosis 8

Term ID

DOID:0110723

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. (3)

References

• ICD10CM:E75.4
• OMIM:600143
• ORDO:228354

Ontology

Human Disease   ( DOID:0110723 )