Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

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.

Also known as: Graham-Cox syndrome, MRXS28, corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive, corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia, intellectual disability, X-linked, syndromic 28, mental retardation, X-linked, syndromic 28, agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome, corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia

28 clinical trials for this condition and its sub-types.