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Autosomal dominant nonsyndromic hearing loss 4A(DFNA4; DFNA4A)

MedGen UID:
322209
•Concept ID:
C1833503
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 4; Deafness, autosomal dominant 4A; DFNA 4 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): MYH14 (19q13.33)
 
Monarch Initiative: MONDO:0010915
OMIM®: 600652

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. [from MONDO]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Wang M, Zhou Y, Zhang F, Fan Z, Bai X, Wang H
BMC Med Genet 2020 Jul 25;21(1):154. doi: 10.1186/s12881-020-01086-y. PMID: 32711451Free PMC Article

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