Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... |
ORPHA:293964 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Overgrowth, Obesity |
OMIM:620195 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Obesity |
ORPHA:329249 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c... |
OMIM:615980 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... |
OMIM:619048 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... |
ORPHA:890 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Obesity |
ORPHA:85274 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Abnormal circulating selenium concentration |
ORPHA:171706 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, ... |
ORPHA:369 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity |
OMIM:614845 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Steatorrhea, Increased he... |
ORPHA:71 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity |
ORPHA:3055 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71526 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Cryptorchidism, Obesity, Truncal obe... |
OMIM:616222 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Failure to thrive, Truncal obesity, Decreased testicular size |
ORPHA:261483 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Proportionate tall stature, Cirrhosis, Hypercholesterolemia, ... |
ORPHA:528 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis |
OMIM:608709 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Laurence-Moon Syndrome |
|
Cryptorchidism, Congenital hepatic fibrosis, Obesity |
ORPHA:2377 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Elevated circu... |
OMIM:615381 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Elevated hepatic transaminase |
OMIM:617406 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity |
ORPHA:254531 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Obesity |
OMIM:615982 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Obesity |
OMIM:600955 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity |
OMIM:264120 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Cryptorchidism, Hyperlipidemia, Obesity, Hepatic... |
ORPHA:91 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Cryptorchidism, Obesity, Truncal obesity, Hypercholesterolemia |
ORPHA:96184 |
Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Obesity |
OMIM:614962 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity |
OMIM:301900 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... |
ORPHA:79644 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Biliary tract abnormality, Obesity |
ORPHA:3191 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Mehmo Syndrome |
|
Small for gestational age, Obesity |
OMIM:300148 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Mehmo Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:85282 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... |
ORPHA:189427 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased body weight, Abdominal obesity |
OMIM:615954 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Incr... |
OMIM:610475 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Decreased testicular size, Obesity |
ORPHA:66628 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Microvesicular hep... |
OMIM:610198 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Obesity |
ORPHA:77296 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Obesity |
ORPHA:2233 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Decreased testicular size, Obesity |
ORPHA:179494 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, Disproportionate tall stature, Hypermethioninemia, Failure to thrive, Hepati... |
OMIM:236200 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... |
OMIM:261680 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Obesity |
ORPHA:2183 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
19P13.12 Microdeletion Syndrome |
|
Cryptorchidism, Hyperlipidemia, Hepatic steatosis, Obesity |
ORPHA:254346 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276556 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... |
ORPHA:276575 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
Summitt Syndrome |
|
Obesity, Tall stature |
ORPHA:3210 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Chung-Jansen Syndrome |
|
Cryptorchidism, Obesity |
OMIM:617991 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Overgrowth |
OMIM:605309 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatocellular ... |
OMIM:201475 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con... |
ORPHA:79086 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Wilson-Turner Syndrome |
|
Cryptorchidism, Truncal obesity |
ORPHA:3459 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Large for gestational age, Decreased circulating free fa... |
ORPHA:324575 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Decreased testicular size, Obesity |
OMIM:619185 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Obesity |
OMIM:615633 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Wagr Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:893 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Retinitis Pigmentosa |
|
Abnormal testis morphology, Obesity |
ORPHA:791 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity |
ORPHA:177910 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Obesity, Abnormal circulating C-p... |
ORPHA:552 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Temple Syndrome |
|
Cryptorchidism, Small for gestational age, Obesity |
ORPHA:254516 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive |
OMIM:210200 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Decreased testicular size, Obesity |
ORPHA:3085 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Obesity |
OMIM:601794 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis |
ORPHA:210548 |
Obesity Due To Sim1 Deficiency |
|
Obesity |
ORPHA:369873 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Abdominal obesity, Small for gestational age, Decreased testicular size |
OMIM:300869 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:363741 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity, Polysplenia |
OMIM:610543 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity |
ORPHA:254525 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Obesity |
OMIM:610628 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Decreased testicular size, Obesity |
ORPHA:2234 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Rafiq Syndrome |
|
Truncal obesity, Obesity |
OMIM:614202 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Hepatic fibrosis, Obesity |
ORPHA:110 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
14Q11.2 Microduplication Syndrome |
|
Obesity |
ORPHA:261229 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity |
ORPHA:480907 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... |
OMIM:617253 |
Carpenter Syndrome |
|
Cryptorchidism, Obesity, Polysplenia |
ORPHA:65759 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Megalencephaly |
|
Macroorchidism, Truncal obesity |
ORPHA:2477 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
Monosomy 13Q34 |
|
Hepatic steatosis, Hypercalcemia, Obesity |
ORPHA:96168 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity |
ORPHA:2928 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:212138 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Weight loss... |
OMIM:619487 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Increased circulating ... |
ORPHA:90041 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Truncal obesity, Obesity |
OMIM:618363 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepato... |
ORPHA:14 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Increased body weight |
OMIM:615830 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Pancreatitis |
OMIM:619471 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level |
OMIM:219080 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity |
ORPHA:1035 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:171839 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Obesity |
OMIM:615986 |
48,Xxyy Syndrome |
|
Cryptorchidism, Obesity, Azoospermia, Decreased testicular size, Tall stature |
ORPHA:10 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity |
ORPHA:819 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level, Paradoxical incr... |
OMIM:610489 |
Pseudopseudohypoparathyroidism |
|
Obesity |
OMIM:612463 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis... |
OMIM:212065 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Failure to thrive, Hepatic stea... |
OMIM:616263 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Obesity |
ORPHA:464282 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Obesity |
OMIM:619737 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Elevated circulating creatine kinase concentration, Obesity |
OMIM:615418 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver... |
OMIM:618329 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Increased body mass index, Small for gestational age, Truncal obesity |
OMIM:300957 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia, Obesity |
ORPHA:261222 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Schaaf-Yang Syndrome |
|
Cryptorchidism, Failure to thrive in infancy, Obesity |
OMIM:615547 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... |
ORPHA:1501 |
Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Truncal obesity, Decreased testicular size |
OMIM:300882 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight |
ORPHA:589905 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Increased hepatic gly... |
ORPHA:79259 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... |
ORPHA:348 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:464288 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Obesity |
OMIM:614613 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
Leptin Receptor Deficiency |
|
Obesity |
OMIM:614963 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:3409 |
15Q24 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Small for gestational age, Obesity |
ORPHA:94065 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati... |
ORPHA:280365 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Obesity |
ORPHA:412035 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Ring Chromosome Y Syndrome |
|
Cryptorchidism, Azoospermia, Unilateral cryptorchidism, Obesity |
ORPHA:261529 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Hypophospha... |
OMIM:616026 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepat... |
ORPHA:746 |
Chromosome 2Q37 Deletion Syndrome |
|
Obesity |
OMIM:600430 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Obesity |
OMIM:194072 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:612462 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Diffuse hepatic steatosis, Hepatomegaly, Failure to thrive, Decreased liver function |
ORPHA:436271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Cryptorchidism, Abdominal obesity, Decreased testicular size |
OMIM:300354 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Obesity |
OMIM:300055 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Obesity |
ORPHA:2180 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Neoplasm of the pancreas, Small for gestational... |
ORPHA:2959 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hypo... |
ORPHA:699 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity |
OMIM:620191 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Truncal obesity, Failure to thrive, Small for gestational age, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Obesity |
ORPHA:163681 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Obesity |
OMIM:618443 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Small for gestational age, Portal hypertension,... |
OMIM:613658 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity |
OMIM:615300 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Obesity |
OMIM:103580 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity |
ORPHA:284180 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
Bdv Syndrome |
|
Cryptorchidism, Obesity |
OMIM:619326 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Decreas... |
OMIM:209900 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Truncal obesity, Decreased testicular size |
ORPHA:3041 |
Momo Syndrome |
|
Overgrowth, Obesity, Tall stature, Large for gestational age |
ORPHA:2563 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity |
OMIM:616831 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Disproportionate tall stature, Abdominal obesity |
OMIM:301039 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Proportionate tall stature, Obesity |
ORPHA:404443 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... |
OMIM:220110 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Xylt1-Cdg |
|
Truncal obesity, Hepatomegaly |
ORPHA:370930 |
48,Xxxy Syndrome |
|
Cryptorchidism, Obesity, Azoospermia, Decreased testicular size, Tall stature |
ORPHA:96263 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal mitochondrial shape... |
ORPHA:17 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Azoospermia, Hepatic steatosis |
OMIM:210900 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Obesity, Abdominal obesity |
OMIM:219090 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Elevated circulating glutaric acid concentration, Microvesicular hepati... |
ORPHA:66634 |
Radio-Tartaglia Syndrome |
|
Obesity |
OMIM:619312 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:439822 |
Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, C... |
OMIM:124000 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size |
ORPHA:813 |
Carpenter Syndrome 1 |
|
Cryptorchidism, Obesity, Polysplenia |
OMIM:201000 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Truncal obesity, Decreased testicular size |
ORPHA:127 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Adiposis Dolorosa |
|
Obesity |
ORPHA:36397 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Abdominal obesity, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Bardet-Biedl Syndrome 17 |
|
Obesity |
OMIM:615994 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Macrovesicular hepatic steatosis |
OMIM:617303 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Increased body weight |
ORPHA:97279 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity |
ORPHA:247768 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cryptorchidism, Failure to thrive, Abnormal testis morphology, Obesity |
ORPHA:96147 |
Webb-Dattani Syndrome |
|
Cryptorchidism, Hypernatremia, Obesity |
OMIM:615926 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... |
OMIM:615356 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Large for gestational age, Birth length greater than 97th percentile, Microvesicula... |
OMIM:300868 |
3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis |
OMIM:616271 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... |
ORPHA:404454 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Obesity, Abdominal obesity, Failure to thrive, Decreased testicular size |
ORPHA:398079 |
Kleefstra Syndrome 1 |
|
Cryptorchidism, Obesity |
OMIM:610253 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Obesity |
ORPHA:369837 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Hyperamm... |
OMIM:222700 |
Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Obesity |
ORPHA:3157 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:99832 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco... |
OMIM:618278 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:261197 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Increased i... |
ORPHA:79102 |
Angelman Syndrome |
|
Obesity |
OMIM:105830 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Decreased body weight |
OMIM:619229 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Obesity |
ORPHA:91355 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
White-Sutton Syndrome |
|
Failure to thrive, Obesity |
OMIM:616364 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hepatitis, Weight loss,... |
OMIM:615846 |
Chops Syndrome |
|
Splenomegaly, Cryptorchidism, Obesity |
OMIM:616368 |
2Q37 Microdeletion Syndrome |
|
Obesity |
ORPHA:1001 |
Sotos Syndrome |
|
Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Tall stature |
OMIM:117550 |
Wagro Syndrome |
|
Decreased testicular size, Obesity |
OMIM:612469 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased body weight,... |
ORPHA:2298 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity |
ORPHA:2235 |
Insulin-Like Growth Factor I, Resistance To |
|
Truncal obesity, Decreased body weight |
OMIM:270450 |
Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity |
OMIM:216550 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Hepatic failure |
OMIM:301072 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Obesity |
OMIM:618493 |
Down Syndrome |
|
Obesity |
ORPHA:870 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated ... |
OMIM:270400 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Cohen Syndrome |
|
Cryptorchidism, Failure to thrive in infancy, Obesity |
ORPHA:193 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Peripartum Cardiomyopathy |
|
Obesity |
ORPHA:563 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Kleefstra Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:261494 |
Prader-Willi Syndrome |
|
Cryptorchidism, Abdominal obesity, Failure to thrive in infancy, Obesity |
OMIM:176270 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Abnormal circulating lipid concentration, Truncal obesity |
OMIM:616541 |
3Q29 Microduplication Syndrome |
|
Obesity |
ORPHA:251038 |
Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Cryptorchidism, Obesity, Failure to thrive, Decreased testicular size |
ORPHA:98754 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity |
ORPHA:2822 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Obesity |
OMIM:614231 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Overweight, Jaundice, Obesity, Hyperbilirubinemia, Decreased body ... |
OMIM:619475 |
Angelman Syndrome |
|
Obesity |
ORPHA:72 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small for gestational age, Cryptorchidism, Obesity, Failure to thrive, Decreased testicular size |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small for gestational age, Cryptorchidism, Obesity, Failure to thrive, Decreased testicular size |
ORPHA:177904 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Failure to thrive in infancy, Biliary atresia, Obesity, Proportionate ... |
ORPHA:96149 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small for gestational age, Cryptorchidism, Obesity, Failure to thrive, Decreased testicular size |
ORPHA:177901 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Kallmann Syndrome |
|
Cryptorchidism, Decreased testicular size, Obesity |
ORPHA:478 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macro... |
OMIM:619127 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hyperlipidemia, Hyperkalemia, Obesity |
ORPHA:293987 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Increased body weight, Abdominal obesity, Failure to thrive, Decreased testicular... |
ORPHA:398069 |
White-Sutton Syndrome |
|
Obesity |
ORPHA:468678 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Decreased body weight, Failure to thrive, Hepatic steatosis, Abnormal testi... |
ORPHA:79474 |
1P36 Deletion Syndrome |
|
Cryptorchidism, Abnormality of the spleen, Obesity, Abnormality of the liver, Annular pancreas, F... |
ORPHA:1606 |
Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Ulnar-Mammary Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:3138 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Obesity |
OMIM:616078 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Large for gestational age, Cr... |
ORPHA:116 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Cholesta... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Cholesta... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Cholesta... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Obesity, Biliary cirrhosis, Cholesta... |
ORPHA:99226 |
Cushing Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... |
ORPHA:96253 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Truncal obesity, Obesity |
ORPHA:466950 |
7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:96121 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity |
ORPHA:177907 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity |
ORPHA:2637 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
Digeorge Syndrome |
|
Splenomegaly, Obesity, Hydrocele testis, Hypocalcemia, Cholelithiasis, Hepatic steatosis |
OMIM:188400 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Obesity |
OMIM:618653 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Obesity |
ORPHA:369950 |
Meningioma |
|
Decreased circulating cortisol level, Obesity |
ORPHA:2495 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:244242 |
22Q11.2 Deletion Syndrome |
|
Splenomegaly, Cryptorchidism, Obesity, Hypocalcemia, Cholelithiasis, Failure to thrive |
ORPHA:567 |
Prader-Willi Syndrome |
|
Cryptorchidism, Abdominal obesity, Failure to thrive, Decreased testicular size |
ORPHA:739 |
Helsmoortel-Van Der Aa Syndrome |
|
Cryptorchidism, Failure to thrive, Truncal obesity, Obesity |
OMIM:615873 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Ogden Syndrome |
|
Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Hydrocele testis, Macrovesicular hepa... |
OMIM:300855 |
Carney Complex |
|
Neoplasm of the pancreas, Testicular neoplasm, Hepatocellular carcinoma, Testicular adrenal rest ... |
ORPHA:1359 |
Wiedemann-Rautenstrauch Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Cryptorchidism, Failure to thrive, Slender build |
ORPHA:3455 |
Kabuki Syndrome |
|
Cryptorchidism, Failure to thrive, Obesity |
ORPHA:2322 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Truncal obesity |
OMIM:210720 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
Craniopharyngioma |
|
Obesity |
ORPHA:54595 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Obesity |
OMIM:619269 |
1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... |
ORPHA:70591 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Microvesicular hepatic steatosis, Hyperammonemia, Increased hepatocell... |
OMIM:220111 |
Bloom Syndrome |
|
Azoospermia, Abdominal obesity, Small for gestational age, Oligozoospermia |
ORPHA:125 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Portal hypertension, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Hypocalcemia, Hypomagnesemi... |
OMIM:619503 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Testicula... |
ORPHA:64 |
White-Kernohan Syndrome |
|
Obesity |
OMIM:619426 |
Sarcoidosis |
|
Hepatomegaly, Hypercalcemia, Portal hypertension, Weight loss, Abnormal liver parenchyma morpholo... |
ORPHA:797 |
Tako-Tsubo Cardiomyopathy |
|
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
Myhre Syndrome |
|
Cryptorchidism, Small for gestational age, Obesity |
OMIM:139210 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Obesity, Azoospermia |
ORPHA:1772 |
Xq21 Microdeletion Syndrome |
|
Obesity |
ORPHA:1435 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression ... |
ORPHA:99889 |
Adnp Syndrome |
|
Cryptorchidism, Truncal obesity |
ORPHA:404448 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:75857 |
17Q24.2 Microdeletion Syndrome |
|
Truncal obesity, Failure to thrive in infancy |
ORPHA:529962 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Truncal ob... |
OMIM:180849 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Obesity |
ORPHA:444077 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Failure to thrive, Obesity |
OMIM:617157 |
Williams Syndrome |
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Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:904 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Cryptorchidism, Failure to thrive, Obesity |
ORPHA:353281 |
Carpenter Syndrome 2 |
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Bilateral cryptorchidism, Cryptorchidism, Obesity |
OMIM:614976 |
Monosomy 22Q13.3 |
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Obesity |
ORPHA:48652 |
Williams-Beuren Syndrome |
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Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Obesity |
OMIM:194050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hydrocele testis, Cryptorchidism, Failure to thrive, Obesity |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hydrocele testis, Cryptorchidism, Failure to thrive, Obesity |
ORPHA:353277 |
Witteveen-Kolk Syndrome |
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Small for gestational age, Unilateral cryptorchidism, Obesity |
OMIM:613406 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Cryptorchidism, Obesity |
OMIM:607872 |
Ulnar-Mammary Syndrome |
|
Obesity |
OMIM:181450 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Truncal obesity, Failure to thrive |
OMIM:612474 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Cryptorchidism, Decreased testicular size, Obesity |
OMIM:309580 |
Cornelia De Lange Syndrome |
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Cryptorchidism, Failure to thrive, Truncal obesity |
ORPHA:199 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morph... |
ORPHA:79318 |
Primrose Syndrome |
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Bilateral cryptorchidism, Cryptorchidism, Truncal obesity, Elevated circulating alpha-fetoprotein... |
OMIM:259050 |
Pallister-Killian Syndrome |
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Cryptorchidism, Obesity |
OMIM:601803 |