Heterozygous germline variants in SMARCA2 are linked with Nicolaides-Baraitser syndrome (MIM: 601358), which is characterized by intellectual disability, seizures, limited to absence of speech ability, short stature, dysmorphic facial features and sparse hair (91, 92; 93–97); and heterozygous germline variants in KMT2C are linked with Kleefstra syndrome, type 2 (MIM: 617768), which is characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphic features (98–101). This evidence concerns the gene SMARCA2 and intellectual disability - sparse hair - brachydactyly.