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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): 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
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
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
Abnormal fundus morphology
MedGen UID:
871316
•Concept ID:
C4025804
•
Anatomical Abnormality
Any structural abnormality of the fundus of the eye.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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: 37561809Free 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

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: 21465647Free PMC Article

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