MedGen

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]

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

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) [from OMIM]

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

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

A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance [from HPO]