Autosomal recessive nonsyndromic hearing loss 91(DFNB91)

MedGen UID:: 462054
•Concept ID:: C3150704
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 91

Gene (location): Gene(s) directly associated with this condition or phenotype.	SERPINB6 (6p25.2)

Monarch Initiative:	MONDO:0013269
OMIM®:	613453

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. [from MONDO]

Clinical features

From HPO

Progressive hearing impairment

MedGen UID:: 331224
•Concept ID:: C1842138
•: Finding

A progressive form of hearing impairment.

See: Feature record | Search on this feature

Ear malformation
- Progressive 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 91

Recent clinical studies

Etiology

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280

See all (1)

Diagnosis

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280

See all (1)

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Autosomal recessive nonsyndromic hearing loss 91(DFNB91)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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