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Autosomal recessive nonsyndromic hearing loss 49(DFNB49)

MedGen UID:
346670
•Concept ID:
C1857811
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 49; Deafness, neurosensory, autosomal recessive 49; DFNB49 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): MARVELD2 (5q13.2)
 
Monarch Initiative: MONDO:0012420
OMIM®: 610153

Definition

Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies (Riazuddin et al., 2006 and Chishti et al., 2008). [from OMIM]

Clinical features

From HPO
Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB
Hum Mutat 2016 Oct;37(10):991-1003. Epub 2016 Aug 21 doi: 10.1002/humu.23042. PMID: 27375115Free PMC Article
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281

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