U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...