Nicolaides–Baraitser syndrome
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Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in fewer than 200 cases worldwide.[2] NCBRS is a distinct condition and well recognizable once the symptoms have been identified.
Quick Facts Other names, Frequency ...
Nicolaides-Baraitser syndrome - NCBRS | |
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Other names | NCBRS |
Frequency | <1 / 1 000 000[1] |
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The differential includes Coffin–Siris syndrome.