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Hearing loss, autosomal recessive 113(DFNB113)

MedGen UID:
1674289
•Concept ID:
C5193079
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 113
 
Gene (location): CEACAM16 (19q13.31-13.32)
 
Monarch Initiative: MONDO:0032732
OMIM®: 618410

Definition

DFNB113 is characterized by postlingual progressive hearing impairment (Booth et al., 2018). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
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.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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