Fig. 1. Facial phenotype of individuals with Cornelia de Lange Syndrome.
Fig. 1 | Facial phenotype of individuals with Cornelia de Lange Syndrome.
a | Classic Cornelia de Lange Syndrome (CdLS) phenotype resulting from an NIPBL variant. b | Non-classic CdLS phenotype in an individual with an NIPBL variant. c | Adult with NIPBL variant and classic phenotype. d | Non-classic phenotype in individual with an SMC1A variant. e | Classic phenotype in an individual with an SMC3 variant. f | Non-classic phenotype in an individual with a RAD21 variant. g | Non-classic phenotype in an individual with an HDAC8 variant. h | Non-classic phenotype in an individual with an ANKRD11 variant.