Autosomal recessive nonsyndromic hearing loss 63(DFNB63)

MedGen UID:: 409872
•Concept ID:: C1969621
•: Disease or Syndrome

Synonyms:	Deafness, autosomal recessive 63; DFNB63 Nonsyndromic Hearing Loss and Deafness

Gene (location): Gene(s) directly associated with this condition or phenotype.	LRTOMT (11q13.4)

Monarch Initiative:	MONDO:0012670
OMIM®:	611451

Definition

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

Clinical features

From HPO

Congenital sensorineural hearing impairment

MedGen UID:: 356101
•Concept ID:: C1865866
•: Disease or Syndrome

A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.

See: Feature record | Search on this feature

Abnormality of the ear
- Congenital 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 63

Recent clinical studies

Diagnosis

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J, Kazemi A, Rezaei H, Vallian S
PLoS One 2023;18(8):e0289247. Epub 2023 Aug 10 doi: 10.1371/journal.pone.0289247. PMID: 37561809 Free PMC Article

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

Prasad S, Kölln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ
Am J Med Genet A 2004 Jan 1;124A(1):1-9. doi: 10.1002/ajmg.a.20272. PMID: 14679580

See all (2)

Clinical prediction guides

Vestibular dysfunction in DFNB1 deafness.

Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS
Am J Med Genet A 2011 May;155A(5):993-1000. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33828. PMID: 21465647 Free PMC Article

See all (1)

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Autosomal recessive nonsyndromic hearing loss 63(DFNB63)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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