Term Name: | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
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Synonyms: | corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, Graham-Cox syndrome, mental retardation, X-linked, syndromic 28, MRXS28 |
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. |
Ontology: | Human Disease [DOID:0060816] ( DOID:0060816 ) |