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Deafness, autosomal recessive 88(DFNB88)

MedGen UID:
811084
Concept ID:
C2829267
Disease or Syndrome
Synonyms: DFNB88
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). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ELMOD3 (2p11.2)
OMIM®: 615429

Clinical features

From HPO
Hearing impairment
MedGen UID:
5453
Concept ID:
C0018772
Finding
A decreased magnitude of the sensory perception of sound.

Recent clinical studies

Etiology

Liu L, Yang B
Acta Neurol Belg 2013 Jun;113(2):157-60. Epub 2012 Oct 2 doi: 10.1007/s13760-012-0138-6. PMID: 23055113

Diagnosis

Liu L, Yang B
Acta Neurol Belg 2013 Jun;113(2):157-60. Epub 2012 Oct 2 doi: 10.1007/s13760-012-0138-6. PMID: 23055113

Prognosis

Liu L, Yang B
Acta Neurol Belg 2013 Jun;113(2):157-60. Epub 2012 Oct 2 doi: 10.1007/s13760-012-0138-6. PMID: 23055113

Clinical prediction guides

Asgharzade S, Tabatabaiefar MA, Modarressi MH, Ghahremani MH, Reiisi S, Tahmasebi P, Abdollahnejad F, Chaleshtori MH
Int J Pediatr Otorhinolaryngol 2017 Jan;92:88-93. Epub 2016 Nov 15 doi: 10.1016/j.ijporl.2016.11.010. PMID: 28012541

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