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Autosomal recessive nonsyndromic hearing loss 18B(DFNB18B)

MedGen UID:
767077
•Concept ID:
C3554163
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 18b
 
Gene (location): OTOG (11p15.1)
 
Monarch Initiative: MONDO:0013985
OMIM®: 614945

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene. [from MONDO]

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
Vestibular hypofunction
MedGen UID:
336378
•Concept ID:
C1848606
•
Finding
A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
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Supplemental Content

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    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
    • PubMed (OMIM)
      Related literature resources in PubMed

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