by Remember The Girls | May 2, 2022
Back to Previous Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role...
by Remember The Girls | May 1, 2022
Back to Previous Otopalatodigital Spectrum Disorders The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1) Otopalatodigital syndrome type 2 (OPD2)...