Synonyms: Graham-Cox 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome?
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Advocacy Organizations
National Organization for Disorders of the Corpus Callosum
The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.