Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he... |
OMIM:306000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Short stature, Hyperlipidemia, Hyperuricemia, Seizure |
ORPHA:364 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Mild postnatal growth retardation, Reduced insulin like growth factor bind... |
OMIM:615961 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... |
OMIM:613027 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic stea... |
OMIM:612526 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Myoclonus, Hyperammonemia, Increased level of hipp... |
OMIM:246450 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Seizure, Hypoglycemia |
ORPHA:35701 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca... |
OMIM:232200 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... |
OMIM:610717 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca... |
OMIM:232220 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hypoglycemia, Hepatocellular necrosis, Hep... |
OMIM:231100 |
Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Abnormal localization of kidney,... |
ORPHA:446 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Growth delay, Short stature, Delayed puberty |
ORPHA:314802 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... |
OMIM:607616 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Severe postnatal growth retardation, Short stature |
OMIM:262700 |
Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Severe short-limb d... |
ORPHA:436182 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Growth d... |
OMIM:251880 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... |
ORPHA:35878 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Hypoglycemia, Severe short stature |
OMIM:223500 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Renal cyst, H... |
OMIM:617056 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hepatomegaly, Hypouricemia, Hypoglycemia, Short stature, Nephrocalcinosis, Gly... |
OMIM:616026 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Hypoketotic hypoglycemia, Intrauterine growth retardation, Hyperinsulinemic hypogl... |
ORPHA:71212 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Sei... |
ORPHA:79233 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Seizure, Hepatomegaly, Myoclonus, Hypertriglyceridemia |
OMIM:615924 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Renal steatosis, Hepatic failure |
OMIM:261650 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Pituitary dwarfism, Hypoglycemia, Severe short stature |
OMIM:262400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Ascites, Cirrhos... |
OMIM:617156 |
Fructose And Galactose Intolerance |
|
Seizure, Hypoglycemia |
OMIM:229500 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Growth delay, Short stature, Delayed puberty |
ORPHA:314811 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Intrauterine growth retardation, Duplicated collecting system, Seizure, Hepatic s... |
OMIM:617093 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Seizure, Neonatal hypoglycemia |
OMIM:240900 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Short stature, Insulin resistance, Hypercholesterolemia,... |
ORPHA:181393 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
3-Methylglutaconic Aciduria Type 1 |
|
Seizure, 3-Methylglutaconic aciduria, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Growth delay, Hyperbilirubinemia, Cirrhosis, Hypercholes... |
OMIM:605814 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Bilateral tonic-clonic seizure, Elevated circulating creat... |
OMIM:201475 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma free carnitine, Hyperammonemia, Seizure, Decreased plasma total carnitine, Long-... |
OMIM:608836 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Glycogen Storage Disease 0, Liver |
|
Seizure, Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Growth delay, Short stature, Abnormal circulating selenium concentration, A... |
ORPHA:171706 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Hypoketotic hypoglycemia, Growth delay, Hepatic necrosi... |
OMIM:231530 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... |
ORPHA:79083 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Intrauterine growth retardation, Ketotic hypoglycemia, Elevated circulatin... |
ORPHA:26792 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce... |
ORPHA:348 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset d... |
ORPHA:324575 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... |
ORPHA:2088 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:144600 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating... |
OMIM:232400 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Short stature, Ketotic hypoglycemia, Glycosuria, Seizure, Elevated hepatic transa... |
ORPHA:2089 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Hypoglycemia, Short stature |
OMIM:616113 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Hypoglycemi... |
OMIM:231680 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Hypertriglyceridemia, Growth delay |
OMIM:618010 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Diabetes mellitus, Unilat... |
OMIM:137920 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal... |
OMIM:255120 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalaninemia, Seizure, Increased ... |
OMIM:266150 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Growth delay, Chronic hepatic failure, Hypophosphatemia, Hyperuricemia, Seizure, Re... |
ORPHA:469 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca... |
OMIM:232240 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia, Seizure, Increased serum pyruvate, Organic aciduria |
OMIM:614741 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Intrauterine growth retardation, Hyp... |
OMIM:619048 |
Morgagni-Stewart-Morel Syndrome |
|
Seizure, Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
Hypoglycemia, Leucine-Induced |
|
Seizure, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... |
OMIM:203800 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating creatine kinase concentration... |
OMIM:619386 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Short stature, Tubulointerstiti... |
ORPHA:79259 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Hyperuricemia, Seizure, Vesicoureteral reflux, Chronic kidney disease, Proteinuri... |
ORPHA:261222 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Seizure, Increased circulating ferritin concentration, Hypertriglycer... |
OMIM:603552 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Re... |
ORPHA:276556 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Seizure, H... |
ORPHA:79237 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... |
OMIM:608600 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid nephrolithias... |
ORPHA:411536 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Cholelithiasis, Exercise-induced myoglobinuria, Hyperuricemia, Jaundice |
OMIM:232800 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, ... |
OMIM:618120 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Hepatomegaly, Hypoglycemia, Lacticaciduria, Elevated circulating creatine ... |
ORPHA:26791 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Choles... |
OMIM:615382 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly, Hepatic failure, Aminoaciduria |
ORPHA:664 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Myoclonus, Seizure, Cirrhosis, Status epilepticus, Hepatic stea... |
ORPHA:363400 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Seizure, Hepatic steatosis, Impaired gluconeoge... |
OMIM:261680 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic... |
ORPHA:276580 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Seizure, Hepatic steatosis, Microscopic hematuria, Glomerulopathy, Proteinuria |
ORPHA:79087 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... |
OMIM:613845 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Aciduria |
OMIM:617950 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... |
OMIM:603471 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Abnormality of endocrine pancreas physiolo... |
ORPHA:93111 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Seizure, Hepatic failure, Elevated hepatic tr... |
ORPHA:156 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Growth delay, Short stature, Seizure, Increased urinary glycerol, Hypertriglyceridemia |
OMIM:307030 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Nephrolithiasis, Cystinuria, Seizure, Hypocalcemia |
ORPHA:163693 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Methylmalonic aciduria, Focal impair... |
ORPHA:289504 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the spleen, Hyperuricemia, Abnormality of the pancreas |
ORPHA:543 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... |
ORPHA:280356 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Organic aciduria, Hyperammonemia |
ORPHA:6 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Increased urine alpha-ketoglutarate concentration... |
ORPHA:2394 |
Laron Syndrome |
|
Hypoglycemia, Hypoplasia of penis, Abnormality of the elbow, Severe short stature, Hypercholester... |
ORPHA:633 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... |
ORPHA:567548 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Hammertoe |
OMIM:618400 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hyp... |
OMIM:229600 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Cardiomegaly, Hyperammonemia, Rec... |
OMIM:212140 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Intrauterine growth retardation, Seizure, Micropenis, Elevated hepatic transaminase... |
OMIM:613861 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Temple Syndrome |
|
Intrauterine growth retardation, Short stature, Maturity-onset diabetes of the young, Small hand,... |
OMIM:616222 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated circulating seb... |
OMIM:615160 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic st... |
ORPHA:79085 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester... |
OMIM:606721 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Decreased liver function, Seizure, Elevated hepatic transaminase |
OMIM:246900 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Sh... |
ORPHA:79240 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Hypoglycemia, Hepatocellular carc... |
OMIM:276700 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperglycemia, Hyperammonemia, Seizure, Hyperuricemia, Ketonuria |
ORPHA:134 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... |
ORPHA:85445 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:617575 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Medium chain dicarboxylic aciduria, Hypoglycemia, Seizure, Hepatic steatosis, Hyper... |
OMIM:201450 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia |
OMIM:245900 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epile... |
ORPHA:3006 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia |
ORPHA:214 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Seizure, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Myoclonus, Hyperammonemia, Recurrent hypoglycemi... |
ORPHA:20 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellu... |
ORPHA:370 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Femoral bowing, En... |
OMIM:615415 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acy... |
ORPHA:79159 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Decreased plasma free carnitine, Myoglobinuria, Hypoketotic hypoglycemia, Elevated ... |
ORPHA:228305 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosi... |
ORPHA:264580 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia, Seizure, Acute hepatic failure, Elevated hepatic transaminase, Jaun... |
OMIM:616483 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Seizure, Hepatomegaly |
ORPHA:79281 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Seizure, Myoclonus, Hypoglycemia |
OMIM:610090 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Febrile seizure (within the age range of 3 months to 6 years), Hypoglycemia, Bilate... |
ORPHA:42 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Intrauterine growth retardation, Maturity-onset diabetes of the young, Small hand, Hypercholester... |
ORPHA:254531 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Growth delay |
OMIM:616111 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Short stature, Neonatal hypoglycemia, Seizure, Postnatal growth retardation |
ORPHA:231140 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Endocardial Fibroelastosis |
|
Seizure, Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Flar... |
OMIM:617303 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ... |
ORPHA:411543 |
Gaisböck Syndrome |
|
Hyperproteinemia, Nephrocalcinosis, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus,... |
ORPHA:90041 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Hyperuricosuria |
OMIM:300661 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, H... |
ORPHA:228308 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Ne... |
ORPHA:730 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste... |
OMIM:301045 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating threonine concentration, Myoclonus, Abnormal circulating histi... |
ORPHA:79096 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... |
OMIM:300635 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Hallux valgus, Focal segmental glomerulosclerosis, Minimal change glomerul... |
OMIM:618348 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Short stature, Craniosynostosis, Myoclonus, Seizure, Increa... |
ORPHA:251004 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Ele... |
OMIM:615381 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria |
ORPHA:2158 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Diabetes me... |
ORPHA:528 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, 3-Methylglutaconic aciduria, Seizure, Hypoglycemia |
ORPHA:67048 |
Seckel Syndrome 10 |
|
Cone-shaped epiphysis, Insulin resistance, Metaphyseal widening, Glucose intolerance, Impaired gl... |
OMIM:617253 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration... |
OMIM:618838 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling, Renal cyst, Seizure, Decreased liver function |
OMIM:614870 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Seizure, Renal salt wasting |
OMIM:614736 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Seizure, Hypoglycemia, Hyperalaninemia |
OMIM:614702 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Hereditary Xanthinuria |
|
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... |
ORPHA:3467 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h... |
ORPHA:263455 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Myoclonus, Splenomegaly, Seizure, Clonic seizure, Bilateral to... |
OMIM:610539 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Seizure, Jaundice, Cholestasis, Decreased circulating cortisol level |
OMIM:201400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated c... |
ORPHA:435660 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Arachnodactyly, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoa... |
OMIM:619013 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Pancreatitis, Hepatic steatosi... |
ORPHA:435651 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Decreased serum ... |
ORPHA:541423 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Joint hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,... |
OMIM:208540 |
Juvenile Paget Disease |
|
Short stature, Hyperuricemia |
ORPHA:2801 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Enlarged kidney, Insulin resist... |
ORPHA:90301 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... |
ORPHA:412 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Seizure, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Decreased urinary potassium, Hyperuricem... |
ORPHA:95409 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Mody |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Hypoglycemia, Hyperammonemia |
OMIM:618253 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Joint dislocation, Cirrhosis, Increased circulating ferritin concent... |
ORPHA:139491 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria |
OMIM:222730 |
Mehmo Syndrome |
|
Hypoglycemia, Birth length less than 3rd percentile, Seizure, Micropenis, Delayed puberty |
OMIM:300148 |
Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Elev... |
ORPHA:94086 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hypoglycemia, Hepatitis, Hyperuricemia, Seizure, Type I diabetes mel... |
ORPHA:199299 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:600995 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hepatic steatosis, Seizure, Acute hyperammonemia, Ketonuria |
OMIM:210200 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Dicarboxylic acid... |
OMIM:212138 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepati... |
OMIM:618641 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitu... |
ORPHA:2348 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:613101 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
H Syndrome |
|
Hallux valgus, Short stature, Delayed puberty, Micropenis, Hepatosplenomegaly, Diabetes mellitus,... |
ORPHA:168569 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Mandibuloacral Dysplasia |
|
Short clavicles, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Os... |
ORPHA:2457 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Long penis, Short stature, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Ascites, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Short stature, Hydroxyprolinuria, Hyperuricemia, Hyperphosphatemia |
OMIM:239000 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Hyperbilirubinemia, Seizure, Hepatic steatosis, Decreased liver function, Choles... |
OMIM:614300 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Intrauterine growth retardation, Hammertoe, Narrow pelvis bone, Nephrogen... |
OMIM:608022 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... |
ORPHA:650 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Bilateral tonic-clonic seizure,... |
ORPHA:369840 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased ... |
ORPHA:158057 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Short stature, Postaxial polydactyly, Met... |
OMIM:613091 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Myoclonus, Renal cyst, S... |
OMIM:614922 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content |
OMIM:261750 |
Shashi-Pena Syndrome |
|
Seizure, Hypoglycemia |
OMIM:617190 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... |
ORPHA:157 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Short stature, Elevated hepatic tra... |
OMIM:256810 |
Congenital Disorder Of Glycosylation, Type Im |
|
Seizure, Hypoketotic hypoglycemia |
OMIM:610768 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Cog4-Cdg |
|
Growth delay, Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly... |
ORPHA:263501 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Hypoglycemia, Intrauterine growth retardation, Hyperglutaminemia, Elevated... |
OMIM:619355 |
Leprechaunism |
|
Severe intrauterine growth retardation, Hepatomegaly, Fasting hypoglycemia, Long penis, Insulin r... |
ORPHA:508 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... |
ORPHA:209902 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Hypoglycemia |
OMIM:618958 |
Cog7-Cdg |
|
Hepatomegaly, Adducted thumb, Elevated circulating creatine kinase concentration, Long fingers, A... |
ORPHA:79333 |
Gracile Syndrome |
|
Renal Fanconi syndrome, Decreased transferrin saturation, Intrauterine growth retardation, Elevat... |
ORPHA:53693 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypoglycemic seizure... |
ORPHA:199296 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Seizure, Hypoglycemic seizures, Short stature, Neonatal hypoglycemia |
OMIM:262600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Hyperammonem... |
ORPHA:159 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Short clavicles, Type II diabetes mellitus, Short stature, Tapered finger, Renovascular hypertens... |
ORPHA:401923 |
Lesch-Nyhan Syndrome |
|
Short stature, Nephrolithiasis, Hyperuricemia, Hyperuricosuria |
OMIM:300322 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Elevated circulating creatine k... |
OMIM:614727 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Seizure, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Intrauterine growth retardation, Short stature, Maturity-onset diabetes of the young, Small hand,... |
ORPHA:96184 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Nephronophthisis, Glucose intolerance, Impaired gl... |
OMIM:615630 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short iliac bones, Short st... |
OMIM:614376 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Bilateral Striopallidodentate Calcinosis |
|
Seizure, Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver |
ORPHA:1980 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, M... |
ORPHA:2924 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting ... |
ORPHA:3337 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Maple Syrup Urine Disease |
|
Elevated circulating L-alloisoleucine concentration, Hypoglycemia, Pancreatitis, Increased level ... |
OMIM:248600 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Hypoadrenocorticism, Familial |
|
Seizure, Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, ... |
ORPHA:88673 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Seizure, 3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased urinary copper concentration, Increased circulating coppe... |
ORPHA:209919 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... |
OMIM:267700 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Intrauterine growth retardation, Methylmalonic aciduria, Lacticaciduria, Growth del... |
OMIM:245400 |
Leigh Syndrome |
|
Seizure, Hepatocellular necrosis |
OMIM:256000 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Seizure |
OMIM:618158 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Smith-Magenis Syndrome |
|
Short stature, Abnormality of the urinary system, Hypercholesterolemia, Seizure, Hypertriglycerid... |
OMIM:182290 |
Addison Disease |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Decreased urinary potassium, Hyperuricem... |
ORPHA:85138 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Seizure, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalce... |
ORPHA:411634 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Abnormality of the metaphysis, Splenomegaly, Aminoaciduria |
ORPHA:417 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Hand polydactyly, S... |
OMIM:314390 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... |
OMIM:271500 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling, Seizure, Elevated circulating aspartate aminotransferase conc... |
OMIM:614876 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Craniosynostosis, Postaxial hand... |
OMIM:200995 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis, Abnormal B-type natriuretic peptide level |
ORPHA:100093 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Long fingers, Seizure, Hepatic steatosis, Acute hepatic failure, Long toe, Elevated... |
OMIM:615438 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Short stature, Pancreatitis, Hyperglycinemia, Hyperammonemia, Increas... |
OMIM:606054 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Seizure, Hepatomegaly, Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
Cockayne Syndrome |
|
Renal hypoplasia, Hepatomegaly, Growth delay, Nephrotic syndrome, Abnormality of epiphysis morpho... |
ORPHA:191 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hydronephrosis, Hypoglycemia, Growth delay, Short stature, Increased hepatic glycog... |
OMIM:614921 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Seizure, Elevated circulating glutaric acid concen... |
OMIM:231670 |
Timothy Syndrome |
|
Cardiomegaly, Seizure, Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... |
ORPHA:158061 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Hyperprolinemia, Splenomegaly, Status epilepticus, Neonatal hypoglycemia, Increa... |
OMIM:619046 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... |
OMIM:603278 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Bilateral tonic-clonic seizure, Infantile spasms, Elevated circulating creatine kin... |
ORPHA:480864 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormal renal physiology, Splenomegaly, Seizure, Increased circulating ferritin co... |
ORPHA:540 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis... |
ORPHA:101330 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Growth delay, Macronodular cirrhosi... |
OMIM:619418 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... |
ORPHA:73272 |
Adrenomyodystrophy |
|
Short stature, Abnormality of the urinary system, Megacystis, Seizure, Hepatic steatosis |
ORPHA:977 |
Aicardi-Goutieres Syndrome 9 |
|
Portal hypertension, Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Ascites, Gl... |
OMIM:619487 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Cholestatic liver disease, Seizure |
ORPHA:5 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Nephrocalcinosis, Myoclonus, Renal cyst, Neonatal hypoglycemia, Seizure, Hepatic st... |
ORPHA:445038 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Tubulointerstitial nephritis, Hyperalaninemia, Hepatic steatosis, Elevated circulat... |
OMIM:614582 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Early onset a... |
ORPHA:79322 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:151660 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... |
ORPHA:890 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Seizure, Decreased circulating cortisol level |
OMIM:202200 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Cone-shaped epiphysis, Short stature, Nephronophthisis, Renal dys... |
OMIM:266920 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Seizure, Hepatomegaly |
OMIM:607906 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Hyperl... |
ORPHA:1414 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Intrauterine growth retardation, Hyperlipidemia, Craniosynostosis, Finger syndactyly... |
ORPHA:254346 |
Ddost-Cdg |
|
Short stature, Seizure, Hepatic steatosis, Nephrotic range proteinuria, Elevated hepatic transami... |
ORPHA:300536 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Pancreatic cysts, Fractures of the long bones, Splenomegaly, Abn... |
ORPHA:464329 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Pancreatitis, Splenomegaly, Cirrho... |
ORPHA:90970 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Recurrent pancreatitis, Jaundice, Hepatic steatosis, Hepatosplenomegaly, Diabetes... |
ORPHA:444490 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature, Methylmalonic aciduria, Seizure, Elevated urine suberic acid level |
OMIM:248360 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Seizure, Hypoglycemia |
OMIM:610006 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Bilateral tonic-clonic seizure, Increased urinary taurine, Seizure, Generalized-ons... |
OMIM:615501 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Hepatomegaly, Seizure, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Broad ischia, Radial deviation of the thumb, Abnormal renal artery ... |
ORPHA:79328 |
Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Adducted thumb, Short stature, Myoclonus, Seizure |
OMIM:612015 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Short stature, Decreased fibular diameter, Gluc... |
OMIM:619127 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Growth delay, Short stature, Epiphyseal stippling, Delayed closure of the anterior ... |
ORPHA:251009 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Acute Liver Failure |
|
Hypoglycemia, Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Hyperammonemia, Seizure, Acut... |
ORPHA:90062 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:613327 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly |
ORPHA:139406 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperammonemia, Hyperalaninemia, Hypoglycemia, Ketonuria |
OMIM:615751 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration... |
OMIM:618835 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Proximal placement of thumb, Seizure, Hip dislocat... |
OMIM:616263 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration... |
OMIM:618839 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... |
OMIM:130650 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... |
ORPHA:99901 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Abnormality of the ureter, Short stature, Abnormal localization of kidney, Hyperc... |
ORPHA:819 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hydronephrosis, Hypoglycemia, Intrauterine growth retardation, Short stature, Growt... |
OMIM:608779 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concen... |
ORPHA:52430 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Rheumatoid arthritis, Clubbing, Enlarged kidney |
ORPHA:79128 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, Hyperlipidemia, Glucos... |
ORPHA:189439 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
Hirsutism, Skeletal Dysplasia, And Mental Retardation |
|
Coxa valga, Down-sloping shoulders, Joint subluxation, Hyperuricemia |
OMIM:142625 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperuricemia |
OMIM:102730 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Short stature, Insulin-resistant diabetes mellitus, Epiphyseal dys... |
OMIM:226980 |
Classic Galactosemia |
|
Hepatomegaly, Hypoglycemia, Ascites, Seizure, Hepatic failure, Elevated hepatic transaminase, Del... |
ORPHA:79239 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In... |
OMIM:252150 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Re... |
OMIM:212065 |
Hsd10 Mitochondrial Disease |
|
Seizure, Hypoglycemia |
OMIM:300438 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Growth delay, Splenomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... |
ORPHA:449395 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Splenomegaly, Seizure, Atonic seizure, Portal hypertension, Generalized non-motor (... |
OMIM:610293 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Alagille Syndrome 1 |
|
Renal dysplasia, Prolonged neonatal jaundice, Cirrhosis, Hypertriglyceridemia, Cholestasis, Hypop... |
OMIM:118450 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Urinary retention, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent ... |
ORPHA:2126 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Splenomegaly, Seizure, In... |
OMIM:603553 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Microvesicular hepatic steatosis, Intrauterine growth retardation, Glutaric aciduria... |
OMIM:610198 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Myoclonic spasms, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Growth ... |
OMIM:252160 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Abnormality of ... |
ORPHA:391428 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Hypoglycemia, Short stature |
ORPHA:231137 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Polydactyly, Postaxial polydactyly, Sandal gap, Preaxial polydactyly, Micropenis, Sy... |
OMIM:612651 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Growth delay, Elevated hepatic ... |
OMIM:615895 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased urinary cortisol level, Hyperlipidemia, Renal cell carcinoma, Glucose intolerance, Incr... |
ORPHA:189427 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Seizure, Hepatomegaly, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:607398 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Ascites, Metaphyseal irregularity, Cardiomegaly, Splenomegaly, ... |
OMIM:269920 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropathy, Hypercalci... |
ORPHA:116 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Hypoglycemia, Short stature |
ORPHA:48431 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Intrauterine growth retardation, Growth delay, Elevated hepatic... |
ORPHA:66634 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Metaphyseal dysplasia, Growth delay, Ascites, Elevated hepatic transa... |
ORPHA:1667 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperlysinemia, Infantile spasms, Lacticaciduria, Hyperglycemia, Hype... |
ORPHA:3008 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Seizure, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis |
OMIM:614924 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin resistance, Pancreatitis, Acrooste... |
ORPHA:280365 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly |
OMIM:618541 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Arthritis, Increased total bilirubin, Spl... |
ORPHA:2137 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Hepatomegaly, Intrauterine growth retardation, Growth delay, Hyperammonemia, Seizure... |
ORPHA:1194 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, ... |
ORPHA:905 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Hypercholesterolemia... |
OMIM:300972 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr... |
OMIM:608594 |
Familial Osteodysplasia, Anderson Type |
|
Bifid femur, Aplastic clavicle, Hyperuricemia, Seizure, Aplasia/hypoplasia of the femur, Elbow di... |
ORPHA:2769 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Micronodular cir... |
ORPHA:98907 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria, Growth delay |
OMIM:204000 |
Monosomy 13Q34 |
|
Growth delay, Insulin resistance, Osteochondrosis, Hepatic steatosis, Fetal pyelectasis, Infantil... |
ORPHA:96168 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Growth delay, Hyperlipidemia, Insulin resistance, Delayed epiphyseal o... |
ORPHA:91 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Ascites, Glucose intolerance, Cardi... |
OMIM:235200 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Seizure, Acute hyperammonemia, Hyperglycinuria, Organic aciduria, Ketonuria |
OMIM:210210 |
Donohue Syndrome |
|
Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Long penis, Hyperglycemi... |
OMIM:246200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration... |
OMIM:619055 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Metatarsus adductus, Intrauterine growth retardation, Elevated circulating long cha... |
OMIM:214110 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Seizure, Hypercholesterolemia, Left ventricular hypertrophy |
ORPHA:90065 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Seizure, Hepatic steatosis, Renal steatosis, Hypocalcemia, Jaundice |
OMIM:228100 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... |
ORPHA:882 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Short stature, Recurrent hypogly... |
OMIM:616817 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Arthritis, Splenomegaly, Hypercholesterolemia, Abn... |
OMIM:210250 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr... |
OMIM:269700 |
Chylomicron Retention Disease |
|
Growth delay, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, St... |
ORPHA:71 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Metatarsus adductus, Intrauterine growth retardation, Epiphyseal stippling, Cubitus... |
OMIM:614866 |
Perlman Syndrome |
|
Hepatomegaly, Seizure, Status epilepticus, Abnormal pancreas morphology, Hypoplasia of penis, Nep... |
ORPHA:2849 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
Insulinoma |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Reactive hypogly... |
ORPHA:97279 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypospadias, Hepatomegaly, Short stature, Hyperammonemia, 3-Methylglutaconic aciduria |
OMIM:604273 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting, Hypoglycemia |
OMIM:201910 |
Temple Syndrome |
|
Recurrent hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Short stature |
ORPHA:254516 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Short stature, Seizure, Hypoplasia of penis, Delayed puberty |
ORPHA:95496 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly |
OMIM:618398 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Growth delay, Hyperlipidemia, Congenital nephrotic syndro... |
OMIM:256300 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Enlarged ovaries, Fasting hyperinsulin... |
ORPHA:2298 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Hepatomegaly, Bilateral tonic-clonic seizure, Hammertoe, Bile duct proliferation, ... |
OMIM:261515 |
Mitochondrial Trifunctional Protein Deficiency |
|
Myoglobinuria, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hype... |
OMIM:609015 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... |
OMIM:616860 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Elevated... |
ORPHA:275761 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Upper limb undergrowth, Bilateral tonic-clonic seizure, Nephrocalcinosis, Abnormal... |
ORPHA:369837 |
Pearson Syndrome |
|
Lacticaciduria, Hypophosphatemia, Splenomegaly, Seizure, Postnatal growth retardation, Steatorrhe... |
ORPHA:699 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Abnormality of the metaphysis, Pate... |
ORPHA:290 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Hepatic steatosi... |
ORPHA:98908 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, Homocystinuria, Pancreatitis, Arachnodactyly, Seizure, Methioninuria, Hepati... |
OMIM:236200 |
Argininemia |
|
Hepatomegaly, Oroticaciduria, Portal fibrosis, Micronodular cirrhosis, Diaminoaciduria, Hyperammo... |
OMIM:207800 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Clubbing, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated ... |
OMIM:615486 |
Galactosemia I |
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Hepatomegaly, Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased... |
OMIM:230400 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Seizure, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Intrauterine growth retardation, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type ... |
OMIM:606176 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heavy proteinuria, Nephrotic syndrome, Patent ductus arteriosus, Hepatosplenomegaly, Urinary glyc... |
ORPHA:505248 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypoglycemia, Bile duct proliferation, Myoclonic seizure, Hyperalaninemia, Macrovesicular hepatic... |
OMIM:618329 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Glycosuria, S... |
ORPHA:436271 |
Aredyld Syndrome |
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Hepatomegaly, Abnormality of the ureter, Type II diabetes mellitus, Intrauterine growth retardati... |
ORPHA:1133 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Intrauterine growth retardation, Hypoglycemia, Severe postnatal growth retardation, Proportionate... |
ORPHA:391408 |
Obesity Due To Congenital Leptin Deficiency |
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Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:66628 |
Biliary Atresia, Extrahepatic |
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Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
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Hypouricemia |
OMIM:307830 |
X-Linked Lymphoproliferative Disease |
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Nephritis, Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreased liver function, Increas... |
ORPHA:2442 |
Silver-Russell Syndrome 1 |
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Hypospadias, Urethral valve, Abnormality of the ureter, Fasting hypoglycemia, Intrauterine growth... |
OMIM:180860 |
Mental Retardation, Autosomal Dominant 35 |
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Seizure, Hypoglycemia |
OMIM:616355 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hallux valgus, Knee dislocation, Hammertoe, Radioulnar dislocation, Joint dislocation, Shoulder d... |
ORPHA:536532 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Hype... |
ORPHA:465508 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Hepatomegaly, Delayed closure of the anterior fontanelle, Seizure, Cholestasis, Jaundice |
OMIM:614887 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Arthritis, Splenomegaly, Hypertriglyceridemia, Finger swelling, Elevated hepatic tr... |
OMIM:617591 |
Diffuse Neonatal Hemangiomatosis |
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Hypercalcemia, Hepatomegaly, Ascites, Patent ductus arteriosus, Renal hypoplasia/aplasia, Renal i... |
ORPHA:2123 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Intrauterine growth retardation, Nephrotic syndrome, Splenomegaly, Seizure |
OMIM:615846 |
Congenital Disorder Of Glycosylation, Type Iil |
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Hepatomegaly, Intrauterine growth retardation, Growth delay, Postaxial polydactyly, Elevated circ... |
OMIM:614576 |
Monocarboxylate Transporter 1 Deficiency |
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Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:179494 |
Hypercholesterolemia, Familial, 3 |
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Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Coach Syndrome 1 |
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Hepatomegaly, Hepatic fibrosis, Growth delay, Nephronophthisis, Multiple small medullary renal cy... |
OMIM:216360 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Hepatomegaly, Nephrotic syndrome, Membranous nephropathy, Arthritis, Stage 5 chronic kidney disea... |
OMIM:615559 |
Megalocornea-Mental Retardation Syndrome |
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Short stature, Arachnodactyly, Genu recurvatum, Genu valgum, Hypercholesterolemia, Seizure |
OMIM:249310 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Focal impaired awareness seizure, Se... |
OMIM:619644 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Seizure, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly |
OMIM:618278 |
Hypotonia-Cystinuria Syndrome |
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Nephrolithiasis, Cystinuria, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Griscelli Syndrome Type 2 |
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