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hypomyelinating leukodystrophy 20
Summary
- Synonym
-
- HLD20
- Definition
- A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0112153
- Mondo Disease Ontology
- OMIM
