Autosomal dominant nonsyndromic hearing loss 4B(DFNA4B)

MedGen UID:: 482927
•Concept ID:: C3281297
•: Disease or Syndrome

Synonym:	Deafness, autosomal dominant 4b

Gene (location): Gene(s) directly associated with this condition or phenotype.	CEACAM16 (19q13.31-13.32)

Monarch Initiative:	MONDO:0013823
OMIM®:	614614

Definition

Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by Wang et al., 2015) [from OMIM]

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.

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Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

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Visual impairment

MedGen UID:: 777085
•Concept ID:: C3665347
•: Finding

Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

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Abnormality of the eye
- Visual impairment
Ear malformation
- Abnormal vestibular function
- Sensorineural hearing loss disorder

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Autosomal dominant nonsyndromic hearing loss 4B(DFNA4B)

Definition

Clinical features

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