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Features include: Type E brachydactyly, Short stature, Short 4th metacarpal, and Round face and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 1 | Short stature |
Head and neck |
No clinical trials have been registered for brachydactyly, type E, with atrial septal defect, type 2.
3 publications have been identified in PubMed for brachydactyly, type E, with atrial septal defect, type 2. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).
Liang C (2026). [PMID: 41810204](https://pubmed.ncbi.nlm.nih.gov/41810204/). *Transl Pediatr*. [Case Report / Case Series]
Öztürk M (2025). [PMID: 40461715](https://pubmed.ncbi.nlm.nih.gov/40461715/). *Eur J Pediatr*. [Epidemiology / Natural History]
Shaker N (2024). [PMID: 39445206](https://pubmed.ncbi.nlm.nih.gov/39445206/). *Case Rep Dent*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Online Mendelian Inheritance in Man
1
Round face |
Heart and blood vessels | 1 | Atrial septal defect |