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Autosomal recessive nonsyndromic hearing loss 103(DFNB103)

MedGen UID:
863487
Concept ID:
C4015050
Disease or Syndrome
Synonym: Deafness, autosomal recessive 103
 
Gene (location): CLIC5 (6p21.1)
 
Monarch Initiative: MONDO:0014469
OMIM®: 616042

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 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.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Vestibular areflexia
MedGen UID:
863489
Concept ID:
C4015052
Finding
Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.

Recent clinical studies

Etiology

Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Clinical prediction guides

Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

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