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hypomyelinating leukodystrophy 23
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0070397
- Mondo Disease Ontology
- OMIM
