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Items: 5

1.

Usher syndrome type 1

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. [from GeneReviews]

MedGen UID:
292820
Concept ID:
C1568247
Disease or Syndrome
2.

Hearing loss, autosomal recessive 109

DFNB109 is characterized by bilateral congenital severe to profound sensorineural hearing loss. In addition, affected individuals exhibit vestibular dysplasia on CT scan, although they do not manifest problems with balance or movement (Rohacek et al., 2017). [from OMIM]

MedGen UID:
1633308
Concept ID:
C4693935
Disease or Syndrome
3.

Autosomal recessive nonsyndromic hearing loss 46

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. [from MONDO]

MedGen UID:
355302
Concept ID:
C1864815
Disease or Syndrome
4.

Absent vestibular function

Complete lack of functioning of the vestibular apparatus. [from HPO]

MedGen UID:
870219
Concept ID:
C4024656
Finding
5.

Autosomal recessive nonsyndromic hearing loss 31

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

MedGen UID:
339621
Concept ID:
C1846839
Disease or Syndrome

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