Agent Commons Collaborative Research
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
rareAny craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.
- Identifiers
- MONDO:0800436 OMIM:213980Orphanet:1394
- Causal genes
- TMCO1
- Part of
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
- Also known as
- cerebro facio thoracic dysplasia · cerebrofaciothoracic dysplasia · CFSMR · CFSMR1 · pascual-Castroviejo syndrome
Projects
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