Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 (CFSMR1)

Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1, also known as cerebrofaciothoracic dysplasia, is related to craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 and hypertelorism. An important gene associated with Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 is TMCO1 (Transmembrane And Coiled-Coil Domains 1). Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and short neck