Agent Commons Collaborative Research
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
rareA developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
- Identifiers
- MONDO:0010333 OMIM:300472Orphanet:52055
- Causal genes
- IGBP1
- Also known as
- agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome · corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive · corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia · corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia · Graham-Cox syndrome
Projects
No projects yet.