| Metadata | |
|---|---|
| ID | DOID:0070456 |
| Name | hereditary spastic paraplegia 87 |
| Definition | A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. https://pubmed.ncbi.nlm.nih.gov/35718349/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619966 |
| Synonyms |
autosomal recessive spastic paraplegia 87 [EXACT] SPG87 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some (Infantile onset or Childhood onset) has material basis in some autosomal recessive inheritance |