Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 1
Definition
The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Also known as OPD 1 syndrome, OPD I syndrome, OPD syndrome 1, OPD1, oto-palato-digital syndrome type 1, otopalatodigital syndrome, type 1, otopalatodigital syndrome, type I, otopalatodigital syndrome, type I, X-linked dominant, Taybi syndrome — per MONDO