hypomyelinating leukodystrophy 15

Term ID

DOID:0070398

Synonyms

• HLD15

Definition

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. https://pubmed.ncbi.nlm.nih.gov/29576217/

References

• OMIM:617951

Ontology

Human Disease   ( DOID:0070398 )