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Results 1 - 10 of 12 for Renal coloboma syndrome
  1. Renal coloboma syndrome 
    Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  2. PAX2 gene 
    ... the PAX2 gene have been found to cause renal coloboma syndrome. Most variants are specific to each affected family; ... embryonic development, causing the signs and symptoms of renal coloboma syndrome. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  3. Congenital anomalies of kidney and urinary tract 
    ... affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) ... CAKUT are PAX2, which is also associated with renal coloboma syndrome, and HNF1B, which is involved in 17q12 deletion ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  4. Kidney Diseases (National Library of Medicine)  
    You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about ...
    https://medlineplus.gov/kidneydiseases.html - Health Topics
  5. Optic Nerve Disorders (National Library of Medicine)  
    The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages. You have one connecting the back of each eye (your retina) to ...
    https://medlineplus.gov/opticnervedisorders.html - Health Topics
  6. SALL4 gene 
    ... people with Duane-radial ray syndrome and acro-renal-ocular syndrome. More About This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition A least one ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  7. LRP2 gene 
    ... as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been ... This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/lrp2 - Genetics
  8. FREM1 gene 
    ... This Health Condition MedlinePlus Genetics provides information ... malformations syndrome, sometimes called BNAR. These mutations change single protein ...
    https://medlineplus.gov/genetics/gene/frem1 - Genetics
  9. FRAS1 gene 
    ... This Health Condition MedlinePlus Genetics provides ... (a condition called renal agenesis). The FRAS1 gene mutations involved in CAKUT ...
    https://medlineplus.gov/genetics/gene/fras1 - Genetics
  10. FREM2 gene 
    ... This Health Condition MedlinePlus Genetics provides ... DKFZp686J0811 ECM3 ...
    https://medlineplus.gov/genetics/gene/frem2 - Genetics
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