Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is 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.

Downslanted palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean.


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PMID (PMCID)