autosomal recessive nonsyndromic hearing loss 46
MONDO:0012327Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 46 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.
Definition from the Mondo Disease Ontology (MONDO:0012327), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Profound sensorineural hearing impairmentHPOHP:0011476
- 9 of 9 reported patients · Infantile onset
- Absent vestibular functionHPOHP:0008555
- 0 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 9 reported patients
Where it sits
- A kind of