Disease-gene associations mined from literature

Human genes for neuronal ceroid lipofuscinosis 8

Neuronal ceroid lipofuscinosis 8 [DOID:0110723]

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.

Synonyms:  neuronal ceroid lipofuscinosis 8,  DOID:0110723