Barakat syndrome

Barakat syndrome
Other namesHDR syndrome[1]
This condition is inherited in an autosomal dominant manner.
SpecialtyMedical genetics Edit this on Wikidata

Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity[2] that was first described by Amin J. Barakat et al. in 1977.[3]

  1. ^ "Hypoparathyroidism sensorineural deafness renal disease syndrome". www.orpha.net. Retrieved 29 March 2019.
  2. ^ Barakat, Amin J.; Raygada, Margarita; Rennert, Owen M. (2018-04-16). "Barakat syndrome revisited". American Journal of Medical Genetics Part A. 176 (6): 1341–1348. doi:10.1002/ajmg.a.38693. ISSN 1552-4825. PMID 29663634. S2CID 4898362.
  3. ^ Barakat AY, D'Albora JB, Martin MM, Jose PA (July 1977). "Familial nephrosis, nerve deafness, and hypoparathyroidism". J. Pediatr. 91 (1): 61–4. doi:10.1016/S0022-3476(77)80445-9. PMID 874665.