craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0018454
obsolete dysostosis of genetic origin (obsolete MONDO:0018454)
excluded_subClassOf
MONDO:0031329
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
is_a
CFSMR
related
CFSMR1
exact
cerebro facio thoracic dysplasia
related
cerebrofaciothoracic dysplasia
exact
pascual-Castroviejo syndrome
related
pascual-Castroviejo syndrome type 1
exact