Disease association ontology term - MONDO:0010333 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Term summary
- ID
- MONDO:0010333
- Name
- corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Ontology or CV name
- Disease association
- Definition
- A 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.
