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Human Disease

hereditary spastic paraplegia 87

Term ID
DOID:0070456
Synonyms
  • autosomal recessive spastic paraplegia 87
  • SPG87
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/
References
Ontology
Human Disease   ( DOID:0070456 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models