Barakat syndrome

Also known as: HDR syndrome; hypoparathyroidism, deafness and renal dysplasia

Triad of hypoparathyroidism, sensorineural deafness and renal anomalies.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: GATA3

Etiology & mechanism

GATA3 haploinsufficiency.

Gene(s) involved (1)

GATA3

Symptoms & signs (6)

hypocalcemiarenal dysplasiaseizuressensorineural deafnesstetanyvesicoureteral reflux

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