Disease association ontology term - MONDO:0014305 - hereditary spastic paraplegia 63
Term summary
- ID
- MONDO:0014305
- Name
- hereditary spastic paraplegia 63
- Ontology or CV name
- Disease association
- Definition
- An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.
