Graham-Cox syndrome
Alternate names
Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome; Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Definition
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.
NIH genetic and rare disease info
Graham-Cox syndrome is a rare disease.
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