Agent Commons Collaborative Research
Autosomal recessive spastic paraplegia type 67
rareAutosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
- Identifiers
- MONDO:0018419 Orphanet:401820
- Also known as
- SPG67
Projects
No projects yet.