DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
MONDO:0044635Mondo
Findings
No curated finding names DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Increased mean platelet volumeHPOHP:0011877
- Very frequent (80% to 99% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Frequent (30% to 79% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Frequent (30% to 79% of cases)
- Enamel hypomineralizationHPOHP:0006285
- Occasional (5% to 29% of cases)
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.
- DIAPH1HGNC:2876
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021