Autosomal recessive nonsyndromic hearing loss 101(DFNB101)

MedGen UID:: 856148
•Concept ID:: C3892049
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 101

Gene (location): Gene(s) directly associated with this condition or phenotype.	GRXCR2 (5q32)

Monarch Initiative:	MONDO:0014363
OMIM®:	615837

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. [from MONDO]

Clinical features

From HPO

Bilateral sensorineural hearing impairment

MedGen UID:: 96788
•Concept ID:: C0452138
•: Disease or Syndrome

A bilateral form of sensorineural hearing impairment.

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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
- Bilateral sensorineural hearing impairment

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Autosomal recessive nonsyndromic hearing loss 101(DFNB101)

Definition

Clinical features

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