Also Known As
Graham-Cox syndromeMRXS28corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessivecorpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathiacorpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathiaintellectual disability, X-linked, syndromic 28mental retardation, X-linked, syndromic 28agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndromecorpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathiacorpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
Definition
A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.