Conditions / Genetic
hypomyelinating leukodystrophy 15
info · Genetic
A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41.
Signs and symptoms
- Dystonia
- Ataxia
- CNS hypomyelination
- Leukodystrophy
- Cerebral atrophy
- Hypoplasia of the corpus callosum
- Developmental regression
- Cognitive regression
- Dysphagia
- Motor regression
Also known as: HLD15