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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.
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.

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