ORPHA:726036
Red cell aplasia-microcephaly-seizure-developmental delay syndrome
Also called BMFS due to TP53 gain-of-function variant, RCA-microcephaly-seizure-developmental delay syndrome, Germline p53 activation syndrome, BMFS5
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Antenatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:726036 is classified under "Immunological diseases" in the Orphanet nomenclature.