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Human Disease
hypomyelinating leukodystrophy 23
- Term ID
- DOID:0070397
- Synonyms
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- HLD23
- Definition
- A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. https://pubmed.ncbi.nlm.nih.gov/33964137/
- References
- Ontology
- Human Disease ( DOID:0070397 )
- is a type of
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Zebrafish Models