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DFNA 2 Nonsyndromic Hearing Loss(DFNA2A)

MedGen UID:
436997
Concept ID:
C2677637
Disease or Syndrome
Synonyms: DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: KCNQ4
Cytogenetic location: 1p34.2
OMIM: 600101

Definition

DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss is moderate in the low frequencies and severe to profound in the high frequencies. Although the hearing impairment is often detected during routine hearing assessment of a school-age child, it is likely that hearing is impaired from birth, especially at high frequencies. Most affected persons initially require hearing aids to assist with sound amplification between ages ten and 40 years. By age 70 years, all persons with DFNA2 hearing loss have severe-to-profound hearing impairment. [from GeneReviews]

Clinical features

Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Finding
A disorder characterized by noise in the ears, such as ringing, buzzing, roaring or clicking.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

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