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;
Origin ID : 601358;
UMLS CUI : C1303073;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)