Usher syndrome type 1C- MedGen UID:
- 338506
- •Concept ID:
- C1848604
- •
- 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 89- MedGen UID:
- 462701
- •Concept ID:
- C3151351
- •
- Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.
Autosomal recessive nonsyndromic hearing loss 84B- MedGen UID:
- 767073
- •Concept ID:
- C3554159
- •
- Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.
Autosomal recessive nonsyndromic hearing loss 18B- MedGen UID:
- 767077
- •Concept ID:
- C3554163
- •
- Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.
Lichtenstein-Knorr syndrome- MedGen UID:
- 898996
- •Concept ID:
- C4225383
- •
- Disease or Syndrome
Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015). Some patients with SLC9A1 mutations may not have deafness (Iwama et al., 2018)