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Autosomal recessive nonsyndromic hearing loss 45(DFNB45)

MedGen UID:: 854732
•Concept ID:: C3888030
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 45

Monarch Initiative:	MONDO:0012903
OMIM®:	612433

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. [from MONDO]

Clinical features

From HPO

Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Ear malformation
- Abnormal vestibular function
- Prelingual sensorineural hearing impairment

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 45

Recent clinical studies

Prognosis

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.

Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766

Clinical prediction guides

Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.

Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766

Supplemental Content

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Genetic Testing Registry

Clinical resources

Molecular resources

Coriell Institute for Medical Research

Consumer resources

Reviews

Related information

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PMC Articles
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PubMed
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Autosomal recessive nonsyndromic hearing loss 45
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