has material basis in germline mutation in SMARCA2 congenital nervous system disorder intellectual disability-sparse hair-brachydactyly syndrome https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/nicolaides_baraitser_syndrome_2 sparse hair and mental retardation SCTID:401046009 OMIM:601358 DOID:0081441 MONDO:0011053 NICOLAIDES-Baraitser syndrome SMARCA2-related BAFopathy intellectual disability-sparse hair-brachydactyly syndrome UMLS:C1303073 MESH:C536116 MEDGEN:220983 GARD:0000270 NCBRS Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. Orphanet:3051 Nicolaides-Baraitser syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant syndromic intellectual disability BAFopathy