Term Name: | neuronal ceroid lipofuscinosis 7 |
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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 ) |