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Autosomal recessive nonsyndromic hearing loss 17(DFNB17)

MedGen UID:
355180
Concept ID:
C1864276
Disease or Syndrome
Synonym: Deafness, autosomal recessive 17
 
Monarch Initiative: MONDO:0011279
OMIM®: 603010

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Prognosis

Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar;143(3):311-329. Epub 2024 Mar 9 doi: 10.1007/s00439-024-02649-2. PMID: 38459354Free PMC Article
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free PMC Article
Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H
Laryngoscope 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. PMID: 19274735Free PMC Article
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL
Eur J Hum Genet 2009 May;17(5):554-64. Epub 2008 Dec 24 doi: 10.1038/ejhg.2008.231. PMID: 19107147Free PMC Article

Clinical prediction guides

Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar;143(3):311-329. Epub 2024 Mar 9 doi: 10.1007/s00439-024-02649-2. PMID: 38459354Free PMC Article
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free PMC Article
Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM
Eur J Hum Genet 2019 Sep;27(9):1456-1465. Epub 2019 May 3 doi: 10.1038/s41431-019-0417-2. PMID: 31053783Free PMC Article
Lebeko K, Bosch J, Noubiap JJ, Dandara C, Wonkam A
Pan Afr Med J 2015;20:383. Epub 2015 Apr 17 doi: 10.11604/pamj.2015.20.383.5230. PMID: 26185573Free PMC Article

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