autosomal dominant congenital deafness with onychodystrophy

Term ID

DOID:0080720

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/28396750/

References

• GARD:4732
• OMIM:124480

Ontology

Human Disease   ( DOID:0080720 )