Format

Send to:

Choose Destination

Deafness, autosomal recessive 40(DFNB40)

MedGen UID:
334053
Concept ID:
C1842345
Disease or Syndrome
Synonyms: DFNB40
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)
 
OMIM®: 608264

Clinical features

Prelingual sensorineural hearing impairment
MedGen UID:
504431
Concept ID:
CN000372
Finding
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  

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center