Conditions / Genetic
hereditary spastic paraplegia 52
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
Signs and symptoms
- Hypertonia
- Hypotonia
- Severe intellectual disability
- Excessive shyness
- Hyperreflexia
- Delayed ability to walk
- Drooling
- Spasticity
- Short stature
- Flexion contracture
Also known as: CPSQ6; SPG52; autosomal recessive spastic paraplegia 52; spastic quadriplegic cerebral palsy 6