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hereditary spastic paraplegia 87
Summary
- Synonym
-
- SPG87
- autosomal recessive 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.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0070456
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P1W3 | Calcium permeable stress-gated cation channel 1 |
