autosomal recessive nonsyndromic hearing loss 70
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 70 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 PNPT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013978), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
3 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.
- Hearing impairmentHPOHP:0000365
- 3 of 3 reported patients · Childhood onset
- Abnormal vestibular functionHPOHP:0001751
- 0 of 3 reported patients
- Cognitive impairmentHPOHP:0100543
- 0 of 3 reported patients
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.
- PNPT1HGNC:23166
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of