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Autosomal dominant nonsyndromic hearing loss 69(DCUA; DFNA69)

MedGen UID:
905882
Concept ID:
C4225241
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 69; Deafness, autosomal dominant 69, unilateral or asymmetric
 
Gene (location): KITLG (12q21.32)
 
Monarch Initiative: MONDO:0014738
OMIM®: 616697

Definition

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

Clinical features

From HPO
Sensorineural hearing impairment
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.

Recent clinical studies

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