Usher syndrome, type 1M
MONDO:0032841Mondo
Findings
No curated finding names Usher syndrome, type 1M yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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 vestibular functionHPOHP:0001751
- 5 of 5 reported patients · Infantile onset
- DrusenHPOHP:0011510
- 5 of 5 reported patients
- NyctalopiaHPOHP:0000662
- 5 of 5 reported patients
- Prelingual sensorineural hearing impairmentHPOHP:0000399
- 5 of 5 reported patients · Infantile onset
- Optic disc pallorHPOHP:0000543
- 4 of 5 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 5 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.
- ESPNHGNC:13281
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · G2P · Autosomal recessive · 2018
Where it sits
- A kind of