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Start free with EleplanRed cell aplasia-microcephaly-seizure-developmental delay syndrome
ORPHA:726036Disease
Also called BMFS due to TP53 gain-of-function variant · RCA-microcephaly-seizure-developmental delay syndrome · Germline p53 activation syndrome · BMFS5
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
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
Cross-references
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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