C130983Level 4
Barakat Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys.
**Synonyms:** - Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome
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