" /> Axenfeld-rieger syndrome, type 3 - CISMeF





Preferred Label : Axenfeld-rieger syndrome, type 3;

Symbol : RIEG3;

CISMeF acronym : RIEG3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss; Anterior chamber cleavage syndrome; Rieger syndrome, type 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box C1 gene (FOXC1, 601090.0001);

Prefixed ID : #602482;

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30/04/2025


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