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Deafness, autosomal recessive 2(DFNB2)

MedGen UID:
325485
Concept ID:
C1838701
Disease or Syndrome
Synonyms: DFNB 2 Nonsyndromic Hearing Loss and Deafness; DFNB2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: MYO7A
Cytogenetic location: 11q13.5
OMIM: 600060

Clinical features

Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431).
Vertigo
MedGen UID:
500924
Concept ID:
CN002108
Finding
An abnormal sensation of spinning while the body is actually stationary.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

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