Conductive hearing impairment, Constriction of peripheral visual field, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Dilatated internal auditory canal, Dysdiadochokinesis, Failure to thrive, Gait ataxia, Global developmental delay, Growth delay, Hearing impairment, Hyperreflexia, Hypertension, Intellectual disability, Intellectual disability, mild, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Peripheral visual field loss, Pituitary hypothyroidism, Progressive night blindness, Progressive sensorineural hearing impairment, Progressive visual loss, Reduced visual acuity, Renal artery stenosis, Reticular pigmentary degeneration, Seizure, Sensorineural hearing impairment, Stapes ankylosis, Strabismus, Upper limb muscle weakness, Visual acuity test abnormality

abnormal stria vascularis morphology, abnormal subarcuate fossa morphology, abnormal superior semicircular canal morphology, abnormal temporal bone morphology, abnormal type I spiral ligament fibrocytes, abnormal type II spiral ligament fibrocytes, abnormal vestibular system physiology, absent linear vestibular evoked potential, absent startle reflex, behavior/neurological phenotype, circling, cochlear outer hair cell degeneration, conductive hearing loss, deafness, decreased endocochlear potential, detached Reissner membrane, dilated endolymphatic duct, distended Reissner membrane, head bobbing, head shaking, head tossing, hearing/vestibular/ear phenotype, impaired swimming, increased or absent threshold for auditory brainstem response, sensorineural hearing loss, short vibrissae, small scala tympani