Attenuation of retinal blood vessels, Atypical scarring of skin, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Depression, Glaucoma, Hallucinations, Hemianopia, High hypermetropia, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Iris hypopigmentation, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Schizophrenia, Scotoma, Sensorineural hearing impairment, Type II diabetes mellitus, Undetectable light- and dark-adapted electroretinogram, Vestibular dysfunction, Vestibular hypofunction, Visual field defect, Visual impairment, Visual loss, Wide nasal bridge

abnormal kidney morphology, abnormal orientation of outer hair cell stereociliary bundles, abnormal outer hair cell stereociliary bundle morphology, abnormal ribbon synapse morphology, abnormal startle reflex, abnormal synapse morphology, abnormal synaptic vesicle exocytosis, abnormal vestibular hair cell physiology, abnormal vibrissa morphology, absent cochlear inner hair cells, absent cochlear outer hair cells, absent distortion product otoacoustic emissions, cochlear ganglion degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased cochlear microphonics, degeneration of organ of Corti supporting cells, head bobbing, hearing/vestibular/ear phenotype, impaired balance, increased or absent threshold for auditory brainstem response, organ of Corti degeneration, reduced linear vestibular evoked potential, sensorineural hearing loss, vision/eye phenotype