hypomyelinating leukodystrophy 19

info · Genetic

A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.

Signs and symptoms

Delayed CNS myelination
Delayed ability to walk
Pendular nystagmus
Myopia
Poor head control
Ataxia
Leukodystrophy
Head titubation
Hypospadias
Babinski sign

Also known as: HLD19