| Metadata | |
|---|---|
| ID | DOID:0110722 |
| Name | neuronal ceroid lipofuscinosis 7 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN7 [EXACT] |
| Parent Relationships |