Conditions / Genetic
hereditary spastic paraplegia 50
info · Genetic
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
Signs and symptoms
- Hypotonia
- Severe intellectual disability
- Hyperreflexia
- Spastic tetraplegia
- Babinski sign
- Global developmental delay
- Cerebral palsy
- Jaw hyperreflexia
- Limb hypertonia
- Adducted thumb
Also known as: AP-4 deficiency syndrome; AP-4-Associated Hereditary Spastic Paraplegia; SPG50; adaptor protein complex 4 deficiency; autosomal recessive spastic paraplegia 50