Term Name: | hypomyelinating leukodystrophy 15 |
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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. |
Ontology: | Human Disease [DOID:0070398] ( DOID:0070398 ) |