| Metadata | |
|---|---|
| ID | DOID:0060816 |
| Name | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/14556245 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia [EXACT] Graham-Cox syndrome [EXACT] mental retardation, X-linked, syndromic 28 [EXACT] MRXS28 [EXACT] |
| Parent Relationships |