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Human Disease

hypomyelinating leukodystrophy 23

Term ID
DOID:0070397
Synonyms
  • 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 )
Relationships
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Genes Involved
Zebrafish Models