neuronal ceroid lipofuscinosis 7 (DOID:0110722)
Alliance: disease page
Synonyms: CLN7
Alt IDs: OMIM:610951, ICD10CM:E75.4, ORDO:228366
Definition: 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.