Term Name: neuronal ceroid lipofuscinosis 8
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 )

Relationships
is a type of: autosomal recessive disease neuronal ceroid lipofuscinosis