|
DOID:0060816 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Disease Ontology 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.
Synonyms: Graham-Cox syndrome, MRXS28, corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, mental retardation, X-linked, syndromic 28,
Echinobase Genes
:
igbp1
| MIM:300472 - corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee