hypomyelinating leukodystrophy 16

info · Genetic

A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.

Signs and symptoms

Delayed CNS myelination
Nystagmus
Hypoplasia of the corpus callosum
Dystonia
Seizure
Gait ataxia
Hypotonia
Intention tremor
Leukodystrophy
Brisk reflexes

Also known as: HLD16