autosomal recessive nonsyndromic hearing loss 68
MONDO:0012485Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 68 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 S1PR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012485), 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.
- S1PR2HGNC:3169
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of