Metadata | |
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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 |