Search Ontology:
Human Disease
hypomyelinating leukodystrophy 9
- Term ID
- DOID:0060791
- Synonyms
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- HLD9
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- Definition
- A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24777941
- References
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- ICD10CM:E75.2
- MIM:616140
- ORDO:438114
- Ontology
- Human Disease ( DOID:0060791 )
- is a type of
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Genes Involved
Zebrafish Models