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  2. Hypoparathyroidism with sensorineural deafness and renal dysplasia

Hypoparathyroidism with sensorineural deafness and renal dysplasia

Definition:

Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. It has been reported that mutations in GATA3 cause HDR syndrome.

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