Usher syndrome type 1- MedGen UID:
- 292820
- •Concept ID:
- C1568247
- •
- Disease or Syndrome
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.
Autosomal recessive nonsyndromic hearing loss 31- MedGen UID:
- 339621
- •Concept ID:
- C1846839
- •
- Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.
Autosomal recessive nonsyndromic hearing loss 46- MedGen UID:
- 355302
- •Concept ID:
- C1864815
- •
- Disease or Syndrome
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.
Hearing loss, autosomal recessive 109- MedGen UID:
- 1633308
- •Concept ID:
- C4693935
- •
- Disease or Syndrome
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).