corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (DOID:0060816)
Alliance: disease page
Synonyms: corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Graham-Cox syndrome; mental retardation, X-linked, syndromic 28; MRXS28
Alt IDs: OMIM:300472, ICD10CM:Q87.8, ORDO:52055
Definition: 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.