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Results 1 - 10 of 22 for coloboma
  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. Coloboma 
    Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. Baraitser-Winter syndrome 
    ... frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation Genetic Testing ... 2; BRWS2 PubMed Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  4. Microphthalmia 
    ... with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that ... carry information from the eyes to the brain. Colobomas may be present in one or both eyes ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  5. Manitoba oculotrichoanal syndrome 
    ... notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface ... AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics
  6. CHARGE syndrome 
    ... several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal ... in one of the structures of the eye (coloboma), which forms during early development. A coloboma may ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  7. Congenital anomalies of kidney and urinary tract 
    ... multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes ( ... are PAX2, which is also associated with renal coloboma syndrome, and HNF1B, which is involved in 17q12 ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  8. SRD5A3-congenital disorder of glycosylation 
    ... in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  9. Renpenning syndrome 
    ... split in structures that make up the eye (coloboma), an opening in the roof of the mouth ( ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  10. Bosma arhinia microphthalmia syndrome 
    ... in one of several structures of the eye (coloboma) and clouding of the lenses of the eyes ( ...
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
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