hereditary spastic paraplegia 90B

info · Genetic

A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1.

Signs and symptoms

Short stature
Delayed ability to walk
Seizure
Gastroesophageal reflux
Joint contracture
Failure to thrive
Appendicular spasticity
Sensorineural hearing impairment
Myopia
Axial hypotonia

Also known as: SPG90B; autosomal recessive spastic paraplegia 90B