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Features include very common findings: Progressive sensorineural hearing impairment, Low platelet count (thrombocytopenia), and Increased mean platelet volume; and common findings: Decreased total neutrophil count and Low iron red blood cell count (iron deficiency anemia). 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Low platelet count (thrombocytopenia), Increased mean platelet volume, Decreased total neutrophil count |
Phenotype severity distribution: 3 very common features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome.
2 publications have been identified in PubMed for DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).
Zeng L (2026). [PMID: 41511813](https://pubmed.ncbi.nlm.nih.gov/41511813/). *Mol Genet Genomic Med*. [Basic Science / Preclinical]
Alasmari BG (2024). [PMID: 38915998](https://pubmed.ncbi.nlm.nih.gov/38915998/). *Cureus*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 12:36 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Ears | 1 | Progressive sensorineural hearing impairment |