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Nicolaides–Baraitser syndrome : ウィキペディア英語版 | Nicolaides–Baraitser syndrome
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 less than 100 cases worldwide.〔PMID 22366787〕 NCBRS is a distinct condition and well recognizable once the symptoms have been identified. ==Symptoms==
The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints and broad distal phalanges.
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