hypomyelinating leukodystrophy 23 (DOID:0070397)
Alliance: disease page
Synonyms: HLD23
Alt IDs: OMIM:619688
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.