Features include always present findings: Dystonia, Ataxia, CNS hypomyelination, and Leukodystrophy and others; and common findings: Shrinkage of the cerebellum (cerebellar atrophy), Intention tremor, Nystagmus, and Difficulty swallowing (dysphagia) and others. 33 total HPO annotations.

EPRS1 encodes glutamyl-prolyl-tRNA synthetase 1 (1,512 aa). Multifunctional protein which primarily functions within the aminoacyl-tRNA synthetase multienzyme complex, also known as multisynthetase complex. Highest expression in Cells Cultured fibroblasts (176.6 TPM) and Cells EBV-transformed lymphocytes (122.6 TPM).

Leukodystrophy, hypomyelinating, 15 is associated with mutations in the EPRS1 gene on chromosome 1.

EPRS1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 17.4.

Genetic testing for EPRS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 15 has been reported in the published literature.

Phenotype severity distribution: 8 always present features, 8 common features.

No clinical trials have been registered for leukodystrophy, hypomyelinating, 15.

13 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 15. Research spans Case Report / Case Series (54%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (15%).