" /> Nicolaides-baraitser syndrome - CISMeF





Preferred Label : Nicolaides-baraitser syndrome;

Symbol : NCBRS;

CISMeF acronym : NBS; NCBRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NBS; Sparse hair-impaired intellectual development syndrome;

Description : Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene (SMARCA2, 600014.0001);

Prefixed ID : #601358;

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03/05/2025


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