SIX2-related disorder

OMIM number: N/A

Comments closing date: 09/07/2026

The condition is an ultra-rare genetic disorder related to a pathogenic SIX2 missense variant. There is currently no OMIM disease association. Information about this condition is largely based on gene deletion cases rather than missense variants. It has been reported to cause ptosis which is a condition affecting the eyes including vision quality and eyelid formation, frontonasal dysplasia which is related to the development of typical facial features and conductive hearing loss. Missense variants in the gene affected are also associated with kidney disease (renal hypoplasia) which can progress to requiring kidney transplant and can cause life threatening illness and death.

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