Actinomyopathy-associated syndromic…
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Start free with EleplanActinomyopathy-associated syndromic thrombocytopenia
ORPHA:674653Disease
Also called ACTB-AST
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Gene
ACTBDisease-causing germline mutation(s)
Cross-references
MONDO 100433OMIM 620475UMLS C5882677
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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