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Autosomal recessive nonsyndromic hearing loss 51(DFNB51)

MedGen UID:
355880
Concept ID:
C1864968
Disease or Syndrome
Synonyms: Autosomal recessive nonsyndromic deafness 51; Deafness, autosomal recessive 51
 
Monarch Initiative: MONDO:0012370
OMIM®: 609941

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. [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  

Recent clinical studies

Etiology

Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S
Hear Res 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21 doi: 10.1016/j.heares.2005.08.001. PMID: 16243461

Diagnosis

Arunachalam RK, Koshy T, Venkatesan V, Dawson GP, Franklin Durairaj Paul S, George P
Lab Med 2020 Jan 2;51(1):56-65. doi: 10.1093/labmed/lmz027. PMID: 31150550
Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A
Eur J Med Genet 2016 Jun;59(6-7):325-9. Epub 2016 May 8 doi: 10.1016/j.ejmg.2016.05.002. PMID: 27169813
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S
Hear Res 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21 doi: 10.1016/j.heares.2005.08.001. PMID: 16243461

Prognosis

Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR
Mamm Genome 2007 Sep;18(9):646-56. Epub 2007 Sep 18 doi: 10.1007/s00335-007-9049-x. PMID: 17876667Free PMC Article

Clinical prediction guides

Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS
Am J Med Genet A 2011 May;155A(5):993-1000. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33828. PMID: 21465647Free PMC Article
Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR
Mamm Genome 2007 Sep;18(9):646-56. Epub 2007 Sep 18 doi: 10.1007/s00335-007-9049-x. PMID: 17876667Free PMC Article

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