Conditions / Genetic
hereditary spastic paraplegia 47
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
Signs and symptoms
- Hypertonia
- Severe intellectual disability
- Hyperreflexia
- Microcephaly
- Delayed ability to walk
- Neonatal hypotonia
- Spasticity
- Inability to walk
- Excessive shyness
- Babinski sign
Also known as: CPSQ5; SPG47; autosomal recessive spastic paraplegia 47; spastic quadriplegic cerebral palsy 5