hypomyelinating leukodystrophy 25

info · Genetic

A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21.

Signs and symptoms

Delayed CNS myelination
Delayed ability to walk
Nystagmus
Mild global developmental delay
Hypotonia
Seizure
Global developmental delay
Delayed speech and language development
Gait ataxia
Microcephaly

Also known as: HLD25