autosomal recessive nonsyndromic hearing loss 124
MONDO:0968981Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 124 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 4 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 0 of 1 reported patient
- Abnormality of the cardiovascular systemHPOHP:0001626
- 0 of 1 reported patient
- Abnormality of the eyeHPOHP:0000478
- 0 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
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.
- PKHD1L1HGNC:20313
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of