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Results 1 - 10 of 18 for "cyst," dermoid OR cyst OR "malformation," congenital
  1. Cholangiocarcinoma 
    Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They ...
    https://medlineplus.gov/genetics/condition/cholangiocarcinoma - Genetics
  2. Congenital generalized lipodystrophy 
    ... lipodystrophy Berardinelli-Seip syndrome Brunzell syndrome (with bone cysts) BSCL Generalized lipodystrophy Lipodystrophy, congenital generalized Seip syndrome Total lipodystrophy Genetic Testing Registry: ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  3. Senior-Løken syndrome 
    ... nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  4. CLPB deficiency 
    ... calcium in the kidneys (nephrocalcinosis) or kidney (renal) cysts.Many people with mild, moderate, or severe CLPB deficiency have clouding of the lenses of the eyes (cataracts) from birth (congenital) or beginning in infancy.CLPB deficiency is associated ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  5. RNAse T2-deficient leukoencephalopathy 
    ... individuals with RNAse T2-deficient leukoencephalopathy may have cysts in regions of the brain called the temporal ... white matter lesions are primarily concentrated around the cysts and the ventricles. An abnormally small head and ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  6. HNF1B gene 
    ... cases a type of MODY known as renal cysts and diabetes (RCAD) syndrome (also known as HNF1B- ... have kidney abnormalities (primarily fluid-filled sacs called cysts). Affected individuals may also have abnormalities of the ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  7. CLPB gene 
    ... Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe ... cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  8. 17q12 deletion syndrome 
    ... kidney and urinary tract function. Fluid-filled sacs (cysts) in the kidneys are particularly common. Many affected ... often before age 25. The combination of kidney cysts and MODY5 is sometimes referred to as renal ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  9. Pachyonychia congenita 
    ... follicular keratoses) on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and ... palmoplantar hyperhidrosis).Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
  10. Congenital anomalies of kidney and urinary tract 
    ... a kidney formed of fluid-filled sacs called cysts (multicystic dysplastic kidney), buildup of urine in the ... example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
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