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Results 1 - 10 of 13 for Brain malformations with or without urinary tract defects
  1. PAX2 gene 
    ... and other structures of the urinary system but without the eye problems of renal coloboma syndrome (described above). The urinary system abnormalities vary in severity and are grouped together as congenital anomalies of kidney and urinary tract (CAKUT). The most severe CAKUT abnormalities can cause ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  2. Polycystic kidney disease 
    ... or sides, blood in the urine (hematuria), recurrent urinary tract ... at the base of the brain. Aneurysms can be life-threatening if they tear ...
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease - Genetics
  3. Chromosome 8 
    ... 8. This condition is characterized by heart and urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  4. Mowat-Wilson syndrome 
    ... syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  5. 16p11.2 duplication 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  6. Opitz G/BBB syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  7. Imerslund-Gräsbeck syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome - Genetics
  8. SATB2-associated syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/satb2-associated-syndrome - Genetics
  9. GRIP1 gene 
    ... of the FRAS/FREM complex leads to kidney abnormalities and other problems in Fraser syndrome. More About ... glutamate receptor-interacting ...
    https://medlineplus.gov/genetics/gene/grip1 - Genetics
  10. Vici syndrome 
    ... 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 ( ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
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