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Autosomal recessive nonsyndromic hearing loss 33(DFNB33)

MedGen UID:
335464
Concept ID:
C1846576
Disease or Syndrome
Synonym: Deafness, autosomal recessive 33
 
Monarch Initiative: MONDO:0011799
OMIM®: 607239

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.

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

Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Wei Q, Liu Y, Wang S, Liu T, Lu Y, Xing G, Cao X
Int J Mol Med 2014 Feb;33(2):310-6. Epub 2013 Dec 9 doi: 10.3892/ijmm.2013.1581. PMID: 24337325Free 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
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999

Clinical prediction guides

Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
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
Wei Q, Liu Y, Wang S, Liu T, Lu Y, Xing G, Cao X
Int J Mol Med 2014 Feb;33(2):310-6. Epub 2013 Dec 9 doi: 10.3892/ijmm.2013.1581. PMID: 24337325Free PMC Article
Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Jun;84(6):484-90. Epub 2006 May 4 doi: 10.1007/s00109-005-0023-3. PMID: 16596430Free PMC Article
Thomas MA, Der Kaloustian VM, Tewfik TL
J Otolaryngol 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. PMID: 15841999

Supplemental Content

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