Lowe syndrome is an inherited disorder that is characterized by defects in the eyes, brain and kidneys. This disorder typically only affects males. All affected infants are born with a thick clouding of the lenses in their eyes and all children will have some sort of visual impairment due to eye abnormalities. About half will develop increased pressure in their eyes. Affected infants have weak muscle tone at birth that slowly improves with age. Motor development, such as crawling, standing and walking, are often delayed. Some children may never learn to walk and require a wheelchair for mobility. All children with Lowe syndrome will have some degree of intellectual disability. Seizures and behavior problems are also common. Kidney problems usually develop around one year of age. Kidney problems progressively worsen into adulthood and could cause life-threatening kidney disease, which contributes to a reduced life expectancy. There is no cure for Lowe syndrome, but medical surveillance and care may help to improve some symptoms and overall condition of life. Lowe syndrome is caused by pathogenic variants in the OCRL gene.