autosomal recessive nonsyndromic hearing loss 32
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 32 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.
Definition from the Mondo Disease Ontology (MONDO:0012091), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal sperm morphologyHPOHP:0012864
- 4 of 4 reported patients · Male
- Sensorineural hearing impairmentHPOHP:0000407
- 7 of 7 reported patients · Congenital onset
- Juvenile onset
- Male infertilityHPOHP:0003251
- 5 of 8 reported patients · Male
- Immotile spermHPOHP:0012208
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.
- CDC14AHGNC:1718
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of