See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
Changes in this gene are associated with autosomal recessive hypoparathyroidism-retardation-dysmorphism syndrome (OMIM: 241410)