Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Disease ID: disease_node_13608
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| Dbxref | ICD10CM:Q87.8, MIM:300472, ORDO:52055 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | Graham-Cox syndrome, MRXS28, corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, mental retardation, X-linked, syndromic 28 |
| Doid Label | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
| Doid Description | 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. |
| Disease Node Id | disease_node_13608 |
| Doid Id | DOID_0060816 |
| Label | Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)