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hypomyelinating leukodystrophy 5
Summary
- Synonym
-
- HLD5
- hypomyelination-congenital cataract syndrome
- Definition
- A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0060793
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
