Conditions / Genetic
hereditary spastic paraplegia 51
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
Signs and symptoms
- Inability to walk
- Hypotonia
- Severe intellectual disability
- Ventriculomegaly
- Hyperreflexia
- Spastic tetraplegia
- Neonatal hypotonia
- Spasticity
- Babinski sign
- Delayed ability to walk
Also known as: CPSQ4; SPG51; autosomal dominant spastic paraplegia 51; spastic quadriplegic cerebral palsy 4