Conditions / Genetic
peroxisome biogenesis disorder 14B
info · Genetic
A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21.
Signs and symptoms
- Hypertonia
- Rotary nystagmus
- Strabismus
- Mild intellectual disability
- Migraine
- Nystagmus
- Chiari type I malformation
- Developmental cataract
- Loss of ambulation
- Progressive hearing impairment