Main clinical features
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ciliopathy characterized by progressive sensory dysfunction
characterized by nephronophtisis, progressive visual impairment presenting in the first six months of life and advancing to a cone-rod dystrophy and to blindness in the secund decade
neurosensory degeneration, metabolic defects and cardiomyopathy
associated with diabetes mellitus secundary to insulin resistance, truncal obesity and acanthosis nigricans before 5 years, small external genitalia in males, short stature evident by the age of 8, neurosensory deafness late in the first decade, renal failure frequently developing during the third decade and unusual cause of death, finally a dilated cardiomyopathy occuring at any age and often improving spontaneously |