| Metadata | |
|---|---|
| ID | DOID:0110803 |
| Name | hereditary spastic paraplegia 51 |
| Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/21620353, https://www.ncbi.nlm.nih.gov/pubmed/20972249 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant spastic paraplegia 51 [EXACT] CPSQ4 [EXACT] spastic quadriplegic cerebral palsy 4 [EXACT] SPG51 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |