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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): Gene(s) directly associated with this condition or phenotype.	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

Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 18A

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Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18A

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Autosomal recessive nonsyndromic hearing loss 14
Autosomal recessive nonsyndromic hearing loss 14

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Autosomal recessive nonsyndromic hearing loss 12

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Autosomal recessive nonsyndromic hearing loss 8

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