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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 ...
- ... 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 ...
- ... retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of ... vermis Cerebello-oculo-renal syndrome Cerebellooculorenal syndrome 1 CORS Familial aplasia of ...
- ... in the colored part of the eye (iris coloboma).In almost all people with ... urine is formed (renal tubules).LRP2 gene mutations that cause Donnai-Barrow ...