Conditions / Genetic
hereditary spastic paraplegia 89
info · Genetic
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13.
Signs and symptoms
- Lower limb hyperreflexia
- Motor delay
- Spastic paraplegia
- Thin corpus callosum
- Mild intellectual disability
- Seizure
- Axial hypotonia
- Febrile seizure (within the age range of 3 months to 6 years)
- Microcephaly
- Intrauterine growth retardation
Also known as: SPG89; autosomal recessive spastic paraplegia 89