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

NIH info on Graham-Cox syndrome

Graham-Cox syndrome is a rare disease.

Resources

Frequently asked questions

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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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Graham-Cox syndrome
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