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Autosomal recessive nonsyndromic hearing loss 18A(DFNB18; DFNB18A)

MedGen UID:
356389
•Concept ID:
C1865870
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A; DFNB18 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): USH1C (11p15.1)
 
Monarch Initiative: MONDO:0011192
OMIM®: 602092

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C 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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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