autosomal recessive nonsyndromic hearing loss 84A
MONDO:0013249Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 84A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.
Definition from the Mondo Disease Ontology (MONDO:0013249), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:9679HGNC:9679
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
Where it sits
- A kind of