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Autosomal recessive nonsyndromic hearing loss 67(DFNB67)

MedGen UID:
343997
•Concept ID:
C1853223
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 67; DFNB67 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): LHFPL5 (6p21.31)
 
Monarch Initiative: MONDO:0012460
OMIM®: 610265

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 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
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Abnormal fundus morphology
MedGen UID:
871316
•Concept ID:
C4025804
•
Anatomical Abnormality
Any structural abnormality of the fundus of the eye.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Clinical prediction guides

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P
Neural Plast 2017;2017:3192090. Epub 2017 Jun 13 doi: 10.1155/2017/3192090. PMID: 28695016Free PMC Article

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