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ZRSR2 function has not been fully characterized.
Orofaciodigital syndrome 21 is associated with mutations in the ZRSR2 gene on chromosome X.
Genetic testing for ZRSR2 is available. Testing is considered confirmatory for diagnosis.
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC
Online Mendelian Inheritance in Man