neuronal ceroid lipofuscinosis 7

Term ID

DOID:0110722

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. https://www.ncbi.nlm.nih.gov/pubmed/17564970

References

• GARD:1220
• ICD10CM:E75.4
• OMIM:610951
• ORDO:228366

Ontology

Human Disease   ( DOID:0110722 )