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Deafness, autosomal recessive 40(DFNB40)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: DFNB40
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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)
OMIM®: 608264

Clinical features

Prelingual sensorineural hearing impairment
MedGen UID:
Concept ID:
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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