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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive nonsyndromic deafness 84A
Summary
- Synonym
-
- DFNB84A
- autosomal recessive deafness 84A
- autosomal recessive deafness 84A with vestibular dysfunction
- Definition
- An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110529
- Mondo Disease Ontology
- OMIM
Related Genes
