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

• OMIM:619966

Ontology

Human Disease   ( DOID:0070456 )