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Autosomal recessive nonsyndromic hearing loss 84B(DFNB84B)

MedGen UID:
767073
•Concept ID:
C3554159
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 84b
 
Gene (location): OTOGL (12q21.31)
 
Monarch Initiative: MONDO:0013984
OMIM®: 614944

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL 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 hyporeflexia
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

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

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