Delayed speech and language development, Dysdiadochokinesis, Enlarged vestibular aqueduct, Enuresis, Failure to thrive, Generalized hypotonia, Global developmental delay, Goiter, Hyperaldosteronism, Hyperparathyroidism, Hypocalciuria, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagnesemia, Hypoplasia of the cochlea, Hypothyroidism, Hypotonia, Incomplete partition of the cochlea type II, Increased circulating renin level, Intellectual disability, Intellectual disability, moderate, Intention tremor, Nephropathy, Neurological speech impairment, Peripheral hypomyelination, Polydipsia, Polyuria, Renal potassium wasting, Renal salt wasting, Renal sodium wasting, Respiratory insufficiency, Salt craving, Seizure, Sensorineural hearing impairment, Short stature, Thyroid carcinoma, Tracheal stenosis, Vertigo, Vestibular dysfunction

abnormal eye electrophysiology, abnormal motor capabilities/coordination/movement, abnormal renal tubule morphology, abnormal scala media morphology, abnormal spinal cord white matter morphology, abnormal stria vascularis morphology, abnormal tectorial membrane morphology, absent endocochlear potential, absent pinna reflex, absent startle reflex, brain vacuoles, cochlear ganglion degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, collapsed Reissner membrane, decreased body size, decreased brain size, decreased urine creatinine level, delayed eyelid opening, distended Reissner membrane, enhanced long term potentiation, eyelids fail to open, hearing/vestibular/ear phenotype, hindlimb paralysis, impaired balance, impaired righting response, increased or absent threshold for auditory brainstem response, increased post-tetanic potentiation, increased startle reflex, increased urine sodium level, organ of Corti degeneration, postnatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, slow postnatal weight gain, thin cerebral cortex, utricular macular degeneration, vestibular ganglion degeneration, vestibular hair cell degeneration, vestibular saccular macula degeneration, vision/eye phenotype, weakness