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Barakat syndrome [Supplementary Concept]

An autosomal dominant disorder characterized by sensorineural hearing loss, female genital abnormalities, renal abnormalities, and hypoparathyroidism. Inherited and de novo mutations resulting in HAPLOINSUFFICIENCY have been identified in the GATA3 gene. OMIM: 146255

Date introduced: August 25, 2010

MeSH Unique ID: C537907

Heading Mapped to:

Entry Terms:

  • Nephrosis, nerve deafness, and hypoparathyroidism
  • Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
  • HDR syndrome

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