Term Name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
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 )

Relationships
is a type of: syndromic X-linked intellectual disability