has material basis in germline mutation in TMCO1 syndromic intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete dysostosis of genetic origin craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 https://github.com/monarch-initiative/mondo/issues/5619 https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia pascual-Castroviejo syndrome type 1 MEDGEN:1808104 MESH:C565862 SCTID:720635002 Orphanet:1394 DOID:0081124 Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene. UMLS:C5677021 MONDO:0800436 GARD:0001210 OMIM:213980 CFSMR cerebrofaciothoracic dysplasia pascual-Castroviejo syndrome cerebro facio thoracic dysplasia CFSMR1