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

• OMIM:619688

Ontology

Human Disease   ( DOID:0070397 )