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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
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

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

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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