Search Ontology:
Human Disease
hypomyelinating leukodystrophy 17
- Term ID
- DOID:0070404
- Synonyms
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- HLD17
- Definition
- A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (2)
- References
- Ontology
- Human Disease ( DOID:0070404 )
- is a type of
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