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Brain malformations with or without urinary tract defects
- ... or sides, blood in the urine (hematuria), recurrent urinary tract ... at the base of the brain. Aneurysms can be life-threatening if they tear ...
- ... syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects ...
- ... 2 duplication include malformations of the kidneys and urinary tract. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 duplications; signs and symptoms ...
- ... divided into two lobes (bifid scrotum). These genital abnormalities can lead to problems in the urinary tract.Mild intellectual disability and developmental delay occur in ...
- ... delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that ...
- ... gene involved in the condition): severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.Individuals with ...
- ... A characteristic feature of Vici syndrome is a brain abnormality called agenesis of the corpus callosum, in which ... Vici syndrome include seizures; hearing loss caused by abnormalities of the ... upper lip (cleft lip) with or without an opening in the roof of the mouth ( ...
- ... X-linked adrenoleukodystrophy, but medical testing may show brain or biochemical abnormalities. Some individuals with the asymptomatic form may develop ...
- ... underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back ...