Phenotypes for disease #05543 (CGL (lipodystrophy, generalized, congenital (CGL)))

34 entries on 1 page. Showing entries 1 - 34.
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0000159195 congenital lipodystrophy, muscular dystrophy CGL-4 no acanthosis nigricans, hepatosplenomegaly, reduced growth hormone secretion, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, caridac arrhythmia, lordosis, contractures (ankles, shoulders, fingers), constipation; CPK 1374; no intellectual disability Unknown - - - - Johan den Dunnen 00210630
0000159196 congenital lipodystrophy, muscular dystrophy CGL-4 no acanthosis nigricans, fatty liver, no muscle weakness, myalgia, muscle stiffness, transient IgA deficiency, recurrent pneumonia; CPK 542-2253; no intellectual disability Unknown - - - - Johan den Dunnen 00210631
0000159197 congenital lipodystrophy, muscular dystrophy CGL-4 no acanthosis nigricans, no muscle weakness, nephrosis; CPK 2000; no intellectual disability Unknown - - - - Johan den Dunnen 00210632
0000159198 congenital lipodystrophy, muscular dystrophy CGL-4 generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability Unknown - - - - Johan den Dunnen 00210633
0000159199 congenital lipodystrophy, muscular dystrophy CGL-4 generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability Unknown - - - - Johan den Dunnen 00210634
0000184808 congenital generalized lipodystrophy CGL-1 pseudoacromegaly, acanthosis nigricans, PCO, hypertension, diabetes, retinopathy, proteinuria, ESRD (renal transplantation), CAD, diabetic neuropathy, diabetic foot ulcer, toe amputation Familial, autosomal recessive 30y - - - Johan den Dunnen 00244842
0000184809 congenital generalized lipodystrophy CGL-1 pseudoacromegaly, acanthosis nigricans, PCO, bone cysts, splenic artery aneurysm, hypertension diabetes, retinopathy, proteinuria, kidney failure, diabetic neuropathy, recurrent acute pancreatitis Familial, autosomal recessive 30y - - - Johan den Dunnen 00244843
0000184810 congenital generalized lipodystrophy CGL-1 pseudoacromegaly, acanthosis nigricans, bone cysts, diabetes, microalbuminuria Familial, autosomal recessive 31y - - - Johan den Dunnen 00244844
0000184811 congenital generalized lipodystrophy CGL-1 polycystic ovaries, acanthosis nigricans, hypertension, diabetes, proteinuria, diabetic neuropathy, recurrent acute pancreatitis Familial, autosomal recessive 22y - - - Johan den Dunnen 00244845
0000184812 congenital generalized lipodystrophy CGL-1 bone cysts, toxic multinodular nodular goiter (received radioiodine), hypertension, diabetes, retinopathy, microalbuminuria, CAD; 62y-died Familial, autosomal recessive 62y - - - Johan den Dunnen 00244846
0000184813 congenital generalized lipodystrophy CGL-1 bone cysts, familial Mediterranean fever, hypertension, diabetes, proteinuria, ESRD (on hemodialysis), diabetic neuropathy Familial, autosomal recessive 64y - - - Johan den Dunnen 00244847
0000184814 congenital generalized lipodystrophy CGL-1 bone cysts, seizures, atrial flutter, subclinical hypothyroidism, diabetes, elevated liver enzymes, proteinuria, renal failure, CAD; 62y-died Familial, autosomal recessive 62y - - - Johan den Dunnen 00244848
0000184815 congenital generalized lipodystrophy CGL-1 bone cysts, polycystic ovaries, acanthosis nigricans, diabetes, retinopathy, recurrent acute pancreatitis Familial, autosomal recessive 21y - - - Johan den Dunnen 00244849
0000184816 congenital generalized lipodystrophy CGL-1 bone cysts, IFG, IGT, elevated liver enzymes Familial, autosomal recessive 11y - - - Johan den Dunnen 00244850
0000184817 congenital generalized lipodystrophy CGL-1 diabetes, elevated liver enzymes, retinopathy, proteinuria, diabetic neuropathy, foot ulcer, amputation Familial, autosomal recessive 25y - - - Johan den Dunnen 00244851
0000184818 congenital generalized lipodystrophy CGL-1 elevated HOMA score Familial, autosomal recessive 12y - - - Johan den Dunnen 00244852
0000184819 congenital generalized lipodystrophy CGL-1 IGT Familial, autosomal recessive 19y - - - Johan den Dunnen 00244853
0000184820 congenital generalized lipodystrophy CGL-1 elevated HOMA score, no hypertriglyceridemia Familial, autosomal recessive 3y - - - Johan den Dunnen 00244854
0000184821 congenital generalized lipodystrophy CGL-1 pseudoacromegaly, elevated HOMA score, no hypertriglyceridemia Familial, autosomal recessive 56y - - - Johan den Dunnen 00244855
0000184822 congenital generalized lipodystrophy CGL-1 pseudoacromegaly, acanthosis nigricans, IFG, elevated liver enzymes, no hypertriglyceridemia Familial, autosomal recessive 11y - - - Johan den Dunnen 00244856
0000184823 congenital generalized lipodystrophy CGL-1 pseudoacromegaly, no hypertriglyceridemia Familial, autosomal recessive 4y6m - - - Johan den Dunnen 00244857
0000184824 congenital generalized lipodystrophy CGL-2 pseudoacromegaly, acanthosis nigricans, polycystic ovaries, bone cysts, mild mental retardation, diabetes, retinopathy, microalbuminuria Familial, autosomal recessive 25y - - - Johan den Dunnen 00244859
0000184825 congenital generalized lipodystrophy CGL-2 pseudoacromegaly, acanthosis nigricans, bone cysts, mild mental retardation, diabetes, elevated liver enzymes, proteinuria Familial, autosomal recessive 19y - - - Johan den Dunnen 00244860
0000184826 congenital generalized lipodystrophy CGL-2 elevated HOMA score, elevated liver enzymes, cirrhosis Familial, autosomal recessive 11y - - - Johan den Dunnen 00244861
0000184827 congenital generalized lipodystrophy CGL-2 elevated HOMA score, elevated liver enzymes Familial, autosomal recessive 11y - - - Johan den Dunnen 00244862
0000184828 congenital generalized lipodystrophy CGL-2 pseudoacromegaly, acanthosis nigricans, polycystic ovaries, mild mental retardation, diabetes, elevated liver enzymes, cirrhosis, retinopathy, proteinuria, ESRD (on hemodialysis), diabetic neuropathy, diabetic foot ulcer Familial, autosomal recessive 25y - - - Johan den Dunnen 00244863
0000184829 congenital generalized lipodystrophy CGL-2 pseudoacromegaly, acanthosis nigricans, mild mental retardation, cardiomyopathy, hypertension, diabetes, elevated liver enzymes Familial, autosomal recessive 19y - - - Johan den Dunnen 00244864
0000184830 congenital generalized lipodystrophy CGL-2 pseudoacromegaly, acanthosis nigricans, mild mental retardation, cardiomyopathy, diabetes, elevated liver enzymes, microalbuminuria Familial, autosomal recessive 16y - - - Johan den Dunnen 00244865
0000184831 congenital generalized lipodystrophy CGL-2 elevated HOMA score, elevated liver enzymes Familial, autosomal recessive 11m - - - Johan den Dunnen 00244866
0000184832 congenital generalized lipodystrophy CGL-2 mild mental retardation, elevated liver enzymes Familial, autosomal recessive 5y4m - - - Johan den Dunnen 00244867
0000184833 congenital generalized lipodystrophy CGL-2 mild mental retardation, no hepatic steatosis Familial, autosomal recessive 3y1m - - - Johan den Dunnen 00244868
0000184834 congenital generalized lipodystrophy CGL-2 acanthosis nigricans, elevated HOMA score, elevated liver enzymes Familial, autosomal recessive 9m - - - Johan den Dunnen 00244869
0000184835 congenital generalized lipodystrophy CGL-4 myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGT, no hepatic steatosis Familial, autosomal recessive 16y - - - Johan den Dunnen 00244870
0000184836 congenital generalized lipodystrophy CGL-4 myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG Familial, autosomal recessive 13y - - - Johan den Dunnen 00244871
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