Term Name:	hypomyelinating leukodystrophy 23
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.
Ontology:	Human Disease [DOID:0070397]   ( DOID:0070397 )