DISEASES

Disease-gene associations mined from literature

Human genes for neuronal ceroid lipofuscinosis 7

Neuronal ceroid lipofuscinosis 7 [DOID:0110722]

A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

Synonyms:  neuronal ceroid lipofuscinosis 7,  DOID:0110722,  CLN7