Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
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.
Also known as 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, Graham-Cox syndrome, intellectual disability, X-linked, syndromic 28, mental retardation, X-linked, syndromic 28, MRXS28 — per MONDO