/craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Rare Disease
MONDO:0800436
Also Known As
CFSMR1cerebrofaciothoracic dysplasiapascual-Castroviejo syndrome type 1CFSMRcerebro facio thoracic dysplasiapascual-Castroviejo syndrome
Definition
Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.
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