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Deafness, autosomal recessive 30(DFNB30)

MedGen UID:
335521
Concept ID:
C1846784
Disease or Syndrome
Synonyms: DFNB30; DFNB30 Nonsyndromic Hearing Loss and Deafness
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MYO3A (10p12.1)
OMIM®: 607101

Authors:
A Eliot Shearer  |  Michael S Hildebrand  |  Richard JH Smith   view full author information

Clinical features

Progressive hearing impairment
MedGen UID:
331224
Concept ID:
C1842138
Finding
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Prognosis

Qu R, Sang Q, Xu Y, Feng R, Jin L, He L, Wang L
Int J Pediatr Otorhinolaryngol 2016 May;84:43-7. Epub 2016 Mar 5 doi: 10.1016/j.ijporl.2016.02.036. PMID: 27063751

Clinical prediction guides

Qu R, Sang Q, Xu Y, Feng R, Jin L, He L, Wang L
Int J Pediatr Otorhinolaryngol 2016 May;84:43-7. Epub 2016 Mar 5 doi: 10.1016/j.ijporl.2016.02.036. PMID: 27063751

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