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Deafness, autosomal recessive 18(DFNB18A)

MedGen UID:
356389
Concept ID:
C1865870
Disease or Syndrome
Synonyms: DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18 Nonsyndromic Hearing Loss and Deafness; DFNB18A
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: USH1C
Cytogenetic location: 11p15.1
OMIM: 602092

Disease characteristics

Excerpted from the GeneReview: Deafness and Hereditary Hearing Loss Overview
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Richard JH Smith  |  A Eliot Shearer  |  Michael S Hildebrand, et. al.   view full author information

Clinical features

Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

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