Term Name: neuronal ceroid lipofuscinosis 7
Synonyms: CLN7
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.
Ontology: Human Disease [DOID:0110722]   ( DOID:0110722 )

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