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Autosomal dominant nonsyndromic hearing loss 49(DFNA49)

MedGen UID:
331222
•Concept ID:
C1842136
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 49
 
Monarch Initiative: MONDO:0012023
OMIM®: 608372

Definition

An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23. [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.
See: Feature record | Search on this feature
Progressive hearing impairment
MedGen UID:
331224
•Concept ID:
C1842138
•
Finding
A progressive form of hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
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