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autosomal dominant congenital deafness with onychodystrophy
Summary
- Definition
- A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.
- Super Class
- autosomal dominant disease physical disorder syndrome
External Links
- Disease Ontology
- DOID:0080720
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
