hypomyelinating leukodystrophy 18

info · Genetic

A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.

Signs and symptoms

Delayed speech and language development
Global developmental delay
Spasticity
Absent speech
Failure to thrive
Seizure
Nystagmus
Dysmetria
Dystonia
Cerebellar atrophy

Also known as: HLD18