hypomyelinating leukodystrophy 24

info · Genetic

A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.

Signs and symptoms

Peripheral axonal neuropathy
Severe short stature
Cerebral atrophy
Microcephaly
Decreased motor nerve conduction velocity
Developmental regression
Seizure
Flexion contracture
Global developmental delay
Areflexia

Also known as: HLD24