Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Definition

Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.

Also known as cerebrofaciothoracic dysplasia, CFSMR1, pascual-Castroviejo syndrome type 1 — per MONDO

Also identified as

• DOID 0081124 per MONDO
• MESH C565862 per MONDO
• OMIM 213980 per MONDO
• Orphanet 1394 per MONDO
• SCTID 720635002 per MONDO
• UMLS C5677021 per MONDO