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hypoparathyroidism-deafness-renal disease syndrome | RareConnect | RareConnect.io

/syndromic disease

/hereditary disease

/partial deletion of the short arm of chromosome 10

/hypoparathyroidism-deafness-renal disease syndrome

hypoparathyroidism-deafness-renal disease syndrome

Rare Disease

MONDO:0007797

Also Known As

Barakat SyndromeBarakat syndromeHDR syndromehypoparathyroidism, deafness, and renal anomalies syndromehypoparathyroidism, sensorineural deafness, and renal diseasehypoparathyroidism-deafness-renal disease syndromeHDRhypoparathyroidism, sensorineural deafness, and renal dysplasiahypoparathyroidism, sensorineural deafness, and renal dysplasia syndromenephrosis, nerve deafness, and hypoparathyroidism

Definition

The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:146255 ↗

Orphanet

Orphanet:2237 ↗

GARD

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