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hypomyelinating leukodystrophy 15
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0070398
- Mondo Disease Ontology
- OMIM
