Conditions / Genetic
hypomyelinating leukodystrophy 5
info · Genetic · ICD-10: G37.8
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
Signs and symptoms
- Developmental cataract
- CNS hypomyelination
- Intellectual disability
- Hyperreflexia
- Axial hypotonia
- Babinski sign
- Dysarthria
- Global developmental delay
- Onion bulb formation
- Decreased motor nerve conduction velocity
Also known as: HLD5; hypomyelination-congenital cataract syndrome