Conditions / Genetic
hereditary spastic paraplegia 18B
info · Genetic
A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11.
Signs and symptoms
- Inability to walk
- Biceps hyperreflexia
- Intellectual disability
- Absent speech
- Babinski sign
- Joint contracture
- Strabismus
- Lower limb spasticity
- Lower limb muscle weakness
- High palate
Also known as: IDMDC; autosomal recessive spastic paraplegia 18; autosomal recessive spastic paraplegia type 18; intellectual disability, motor dysfunction and joint contractures; spastic paraplegia 18B