disease: Nicolaides-Baraitser syndrome

nameNicolaides-Baraitser syndrome
descriptionNicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills.
variant-disease NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) AND Nicolaides-Baraitser syndrome
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) AND Nicolaides-Baraitser syndrome
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) AND Nicolaides-Baraitser syndrome
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu) AND Nicolaides-Baraitser syndrome
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) AND Nicolaides-Baraitser syndrome
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