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Autosomal recessive nonsyndromic hearing loss 74(DFNB74)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Deafness, autosomal recessive 74
Gene (location): MSRB3 (12q14.3)
Monarch Initiative: MONDO:0013386
OMIM®: 613718


Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
Concept ID:
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Rod-cone dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies


Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

Clinical prediction guides

Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S
Hum Genet 2005 Jan;116(1-2):17-22. Epub 2004 Nov 6 doi: 10.1007/s00439-004-1205-8. PMID: 15538632

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