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Human Disease
hypomyelinating leukodystrophy 11
- Term ID
- DOID:0060792
- Synonyms
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- HLD11
- Definition
- A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/26151409
- References
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- ICD10CM:G11.1
- MIM:616494
- Ontology
- Human Disease ( DOID:0060792 )
- is a type of
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Zebrafish Models