Actinomyopathy-associated syndromic…

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Actinomyopathy-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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