corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the

A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.

Signs and symptoms

• Short stature
• Agenesis of corpus callosum
• Nystagmus
• Broad forehead
• High palate
• Recurrent pneumonia
• Cupped ear
• Macrocephaly
• Retrognathia
• Intellectual disability

Also known as: Graham-Cox syndrome; MRXS28; corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; mental retardation, X-linked, syndromic 28