Usher syndrome type 1F
MONDO:0011186Mondo
Findings
No curated finding names Usher syndrome type 1F 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.
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 15 of 15 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 14 of 15 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 7 of 8 reported patients
- Impaired tandem gaitHPOHP:0031629
- 7 of 8 reported patients
- Motor delayHPOHP:0001270
- 1 of 8 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.
- PCDH15HGNC:14674
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: Usher syndrome type 1F
- Also called
- USH1F