Autosomal dominant nonsyndromic hearing loss 67(DFNA67)

MedGen UID:: 900413
•Concept ID:: C4084712
•: Disease or Syndrome

Synonym:	Deafness, autosomal dominant 67

Gene (location): Gene(s) directly associated with this condition or phenotype.	OSBPL2 (20q13.33)

Monarch Initiative:	MONDO:0014594
OMIM®:	616340

Definition

DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms (Xing et al., 2015; Thoenes 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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Tinnitus

MedGen UID:: 52760
•Concept ID:: C0040264
•: Disease or Syndrome

Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.

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Ear malformation
- Sensorineural hearing loss disorder
- Tinnitus

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Autosomal dominant nonsyndromic hearing loss 67(DFNA67)

Definition

Clinical features

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