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Metadata
ID	DOID:0070397
Name	hypomyelinating leukodystrophy 23
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/
Xrefs	MIM:619688
Synonyms	HLD23 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease