Cerebral visual impairment, Decreased circulating renin level, EMG: impaired neuromuscular transmission, Epistaxis, Focal impaired awareness seizure, Focal myoclonic seizure, Global developmental delay, Headache, Hearing impairment, Hyperaldosteronism, Hypertension, Hypokalemia, Intellectual disability, severe, Intracranial hemorrhage, Left ventricular hypertrophy, Metabolic alkalosis, Myopia, Nausea, Nephrolithiasis, Patent foramen ovale, Polydipsia, Pulmonary arterial hypertension, Second degree atrioventricular block, Seizure, Spastic paraplegia, Spastic tetraplegia, Tinnitus, Ventricular hypertrophy, Ventricular septal defect

abnormal inner hair cell synaptic ribbon morphology, abnormal myocardial fiber physiology, abnormal pancreatic beta cell differentiation, abnormal pancreatic beta cell physiology, abnormal pancreatic islet morphology, abnormal pons morphology, abnormal sinoatrial node conduction, abnormal sinus arrhythmia, absent active-zone-anchored inner hair cell synaptic ribbon, absent distortion product otoacoustic emissions, absent outer hair cell stereocilia, absent pinna reflex, behavior/neurological phenotype, cochlear ganglion degeneration, cochlear hair cell degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased insulin secretion, decreased neuron number, decreased pancreatic beta cell mass, decreased pancreatic beta cell proliferation, decreased pancreatic islet number, homeostasis/metabolism phenotype, increased heart rate variability, increased insulin sensitivity, increased or absent threshold for auditory brainstem response, increased pancreatic alpha cell number, nervous system phenotype, prolonged RR interval, sensorineural hearing loss