Usher syndrome type 1B
MONDO:0700087Mondo
Findings
No curated finding names Usher syndrome type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene
Definition from the Mondo Disease Ontology (MONDO:0700087), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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 electroretinogramHPOHP:0000512
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 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.
- MYO7AHGNC:7606
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: Usher syndrome type 1B
- Also called
- Usher syndrome, type 1B