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Deafness, autosomal recessive 68(DFNB68)

MedGen UID:
324374
Concept ID:
C1835854
Disease or Syndrome
Synonyms: DFNB68
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): S1PR2 (19p13.2)
OMIM®: 610419

Clinical features

Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M
BMC Med Genet 2013 May 24;14:56. doi: 10.1186/1471-2350-14-56. PMID: 23705809Free PMC Article

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