Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Flattened femoral head, Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossif... |
ORPHA:168621 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... |
OMIM:601376 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy, Calf muscle pseudohypertrophy |
OMIM:300376 |
Short Stature Due To Ghsr Deficiency |
|
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... |
ORPHA:314811 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
3-Methylglutaconic Aciduria Type 1 |
|
Dystonia, Hepatomegaly, Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia |
ORPHA:67046 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... |
OMIM:617156 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, ... |
ORPHA:369 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... |
OMIM:214950 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... |
ORPHA:90647 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... |
OMIM:601559 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Elevated hepatic transa... |
OMIM:610717 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Knee flexion contractur... |
OMIM:619040 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Cirrhosis, Elevated circulating alkal... |
OMIM:613812 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Recurrent hypo... |
OMIM:212140 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating alanine am... |
OMIM:619048 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Failure to thrive, Elevated gamma-glutamyltransferase level, Eleva... |
OMIM:619484 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Dystonia, Hypoglycemia, Decreased liver function, Ataxia, Elevated hepatic transami... |
OMIM:246900 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Toe syndactyly, Bidirectional ventricular ectopy, Prolonged QT interva... |
OMIM:170390 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... |
ORPHA:2089 |
Eiken Syndrome |
|
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... |
ORPHA:79106 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... |
OMIM:256810 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Neutropenia, Atrioventricular block, Anemia, Heart... |
ORPHA:398124 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, H... |
ORPHA:79237 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... |
OMIM:604367 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... |
OMIM:610198 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Failure to thrive, Decreased liver function, Elevated hepatic transaminase |
OMIM:616974 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic ... |
ORPHA:79301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Mental Retardation, Autosomal Dominant 45 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Brugada Syndrome 8 |
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Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Congenital Disorder Of Glycosylation, Type Ig |
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Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... |
OMIM:607143 |
Andersen-Tawil Syndrome |
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Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Increased serum serotonin, Hyperactivity, Small for gestational age |
ORPHA:85288 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Cardiomyopathy, Familial Hypertrophic, 8 |
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Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... |
OMIM:147480 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616829 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Contractures involving the joints of the feet, Hepatomegaly, Hypoxemia, Aplasia/Hypoplasia of the... |
ORPHA:456312 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
Bile Acid Conjugation Defect 1 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
3-Methylglutaconic Aciduria Type 4 |
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Decreased liver function, Hypoglycemia, Failure to thrive |
ORPHA:67048 |
Microcephaly-Micromelia Syndrome |
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Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... |
OMIM:251230 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Insulinomatosis And Diabetes Mellitus |
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Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Brugada Syndrome 5 |
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Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Atrial Fibrillation, Familial, 14 |
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Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Failure to thrive, Elevated circulating alkaline phosphatase concentration, Hepatic... |
OMIM:235555 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Combined Malonic And Methylmalonic Acidemia |
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Elevated hepatic transaminase, Dystonia, Hypoglycemia, Failure to thrive |
ORPHA:289504 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Ataxia, Hepatic failure, Elevated hepatic transami... |
ORPHA:2394 |
Short Rib-Polydactyly Syndrome |
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Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... |
ORPHA:1505 |
Preeclampsia |
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Small for gestational age, Increased body mass index, Abnormality of the hepatic vasculature, Typ... |
ORPHA:275555 |
Low Phospholipid-Associated Cholelithiasis |
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Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
Hypoglycemia, Leucine-Induced |
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Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypog... |
ORPHA:453533 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Obesity Due To Sim1 Deficiency |
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Attention deficit hyperactivity disorder, Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Acromesomelic Dysplasia 3 |
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Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia |
ORPHA:446 |
Brugada Syndrome 7 |
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Atrial flutter, ST segment elevation |
OMIM:613120 |
Insulinoma |
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Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Laurin-Sandrow Syndrome |
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Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive |
OMIM:618958 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Atelosteogenesis Type Iii |
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Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Glycogen Storage Disease Iii |
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Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated hepatic transaminase |
OMIM:232400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Elevated hepatic transaminase, Decreased liver function, Hypoglycemia, Small for gestational age |
OMIM:615160 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Failure to thrive, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level, Lethargy |
OMIM:274270 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice |
ORPHA:890 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Cachexia, Distal arthrogryposis, Hypoglycemia, Decreased liver function, Hepatic st... |
ORPHA:42 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Ataxia-Telangiectasia |
|
Gait disturbance, Type II diabetes mellitus, Failure to thrive, Ataxia, Diabetes mellitus, Aplasi... |
ORPHA:100 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Slc35A2-Cdg |
|
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:356961 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hypogonadism, Diabetes... |
ORPHA:79230 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis, Elevated circulating alanin... |
OMIM:619386 |
Microphthalmia With Limb Anomalies |
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Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... |
ORPHA:1106 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... |
OMIM:246200 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly |
OMIM:258865 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... |
OMIM:268305 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hyp... |
ORPHA:71212 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Dystonia, Hypoglycemia, Small for gestational age |
OMIM:614702 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Cholestatic liver disease,... |
ORPHA:65682 |
Classic Galactosemia |
|
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Hypoglycemia, Decreased serum insulin-like gr... |
ORPHA:79239 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... |
ORPHA:75565 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondria... |
OMIM:251880 |
Blue Diaper Syndrome |
|
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Prolonged QT interval, Bradycardia |
OMIM:601005 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Galactosemia |
|
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Gait imbalance, Decreased serum insulin-like ... |
ORPHA:352 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure,... |
OMIM:231100 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... |
OMIM:227270 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... |
ORPHA:90065 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:151660 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating alkaline phosph... |
OMIM:214900 |
Porphyria Cutanea Tarda |
|
Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Corne... |
ORPHA:101330 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipide... |
ORPHA:156 |
Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... |
OMIM:617394 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... |
OMIM:600803 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... |
OMIM:615381 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... |
ORPHA:2298 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... |
OMIM:119800 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Cholestasis, Hepatic failure, Elevated hepatic transaminase, Jaundice |
OMIM:618528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... |
OMIM:220111 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Hydrocephalus With Associated Malformations |
|
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth |
OMIM:236640 |
Medullary Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyroid carcinoma, P... |
ORPHA:1332 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:370 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Abnormal ery... |
ORPHA:264580 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hepatic steatos... |
OMIM:613327 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... |
OMIM:603471 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Cirrhosis, Hepatic failure... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... |
OMIM:616278 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Cyanosis, Impaired gluconeog... |
OMIM:261680 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Transie... |
OMIM:255120 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia |
ORPHA:3085 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Clubbing of fingers, Atrial fibrillation, Mitral regurgitation, Systoli... |
ORPHA:99106 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Femoral-Facial Syndrome |
|
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... |
ORPHA:1988 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... |
ORPHA:314795 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Failure to thrive, Cirrhosis, Elevated circulating aspartate aminotransferase conce... |
OMIM:617049 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age |
OMIM:609425 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... |
OMIM:600649 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia |
ORPHA:2849 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Pes cavus, Decreased/absent ankle reflexes |
ORPHA:1177 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... |
ORPHA:189439 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Failure to thrive, Glucose intolerance, Impaired glucose tolerance, Abnormality of the liver, Ele... |
OMIM:610131 |
Propionic Acidemia |
|
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia |
ORPHA:35 |
Grant Syndrome |
|
Down-sloping shoulders, Micrognathia, Tibial bowing |
OMIM:138930 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Calf muscle pseudohypertrophy, ... |
OMIM:310200 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Juvenile Huntington Disease |
|
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... |
ORPHA:248111 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Ataxia, Hypoglycemia, Failure to thrive |
ORPHA:95428 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... |
ORPHA:905 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive, Elevated circulating aspa... |
OMIM:609015 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... |
ORPHA:64743 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular ad... |
ORPHA:79240 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
Ivic Syndrome |
|
Leukocytosis, Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of t... |
ORPHA:2307 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:73272 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... |
OMIM:203800 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Omodysplasia 1 |
|
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... |
OMIM:258315 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... |
OMIM:602347 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease |
ORPHA:5 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Acute hepatic steatosis, Hypoglycemia, Lethargy |
OMIM:210200 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Lethargy |
OMIM:616483 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Joint contracture of the hand, Arthrogryposis multiplex congenita, Ing... |
ORPHA:352490 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized ... |
ORPHA:79086 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Hepatocellular carcinoma, Decreased body mass ind... |
ORPHA:247585 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Lethargy |
OMIM:201450 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight |
OMIM:618342 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga |
OMIM:164900 |
Familial Hyperaldosteronism Type Iii |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Tricuspid regurgi... |
OMIM:263520 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Tenorio Syndrome |
|
Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Hepatosplenomegaly... |
ORPHA:96334 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... |
ORPHA:2751 |
Ivic Syndrome |
|
Leukocytosis, Upper limb undergrowth, Hypoplasia of the ulna, Triphalangeal thumb, Short clavicle... |
OMIM:147750 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Elevated gamma-glutamy... |
ORPHA:567983 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... |
OMIM:616860 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus, Obesity |
OMIM:614613 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Failure to thrive, Decreased liver f... |
OMIM:124000 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
Propionic Acidemia |
|
Dystonia, Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Failure to thrive, Pa... |
OMIM:606054 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypog... |
ORPHA:79095 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... |
OMIM:617925 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosplenome... |
ORPHA:1333 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... |
OMIM:608594 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hepatomegaly, Abnormality of the liver, Acute hepatic failure, Hypothyroi... |
ORPHA:1667 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... |
ORPHA:3035 |
Rett Syndrome |
|
Short foot, Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Weight loss, Cirrhosis, Acute hepatic failure, Cholecystitis, Elevated hepatic tran... |
ORPHA:131 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... |
OMIM:269700 |
Orofaciodigital Syndrome X |
|
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly |
OMIM:165590 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Splenomegaly |
ORPHA:664 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... |
ORPHA:1227 |
Eiken Syndrome |
|
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
Glutaric Acidemia I |
|
Dystonia, Hepatomegaly, Hypoglycemia, Failure to thrive |
OMIM:231670 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... |
ORPHA:3093 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Increased circulating T4 level, Goiter, Failure to thrive, Splenomegaly, Hyperactiv... |
ORPHA:525731 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... |
OMIM:248370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Cyanosis, Hepatic failure, Elevated... |
ORPHA:159 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Hepatic steatosis, Acute hepatic failure, Increased circulating lactate dehydr... |
ORPHA:99901 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Brachymesomelia-Renal Syndrome |
|
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius |
OMIM:113470 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Hepatitis, Decreased ... |
ORPHA:199299 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Failure to thrive, Bile duct proliferation, Elevated gamma-glutamyltransferase leve... |
OMIM:618329 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... |
OMIM:274000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... |
ORPHA:26793 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:609069 |
Ck Syndrome |
|
Hyperactivity, Slender build |
ORPHA:251383 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Pseudohypoparathyroidism Type 1B |
|
Cortical subperiosteal resorption of humeral metaphyses, Prolonged QT interval, Diaphyseal sclerosis |
ORPHA:94089 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... |
OMIM:601027 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal echocardiogram, Areflexia of lower limbs, Pes cavus, Conges... |
OMIM:229300 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive |
OMIM:617865 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Elevated hepatic transamina... |
OMIM:212138 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Knee flexion contracture, Hyperactivity, Elevated circulating alkaline phosphata... |
OMIM:616809 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... |
ORPHA:1788 |
Pseudohypoparathyroidism Type 1C |
|
Short 3rd metacarpal, Prolonged QT interval, Short 5th metacarpal, Short metatarsal, Short fifth ... |
ORPHA:79444 |
Ck Syndrome |
|
Hyperactivity, Slender build |
OMIM:300831 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... |
OMIM:619418 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hypoglycemia, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... |
OMIM:304120 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure |
OMIM:611126 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... |
ORPHA:171 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal P wave, Increased circulating troponin T concentration, Ane... |
ORPHA:85443 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... |
OMIM:614921 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder, Reduced phenylalanine hydroxylase level |
OMIM:261600 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Acute myeloid l... |
ORPHA:86839 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Failure to thrive, Jaund... |
ORPHA:90790 |
Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase, Glucose intolerance, Absence of pubertal devel... |
ORPHA:785 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Incr... |
OMIM:182290 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Prolonged QT interval, Hypochromic microcytic anemia, Normochromic microc... |
ORPHA:66634 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Precocious puberty, Broad-based gait |
OMIM:300958 |
Pseudohypoparathyroidism Type 1A |
|
Hypertension, Short 3rd metacarpal, Prolonged QT interval, Short 5th metacarpal, Short metatarsal... |
ORPHA:79443 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Hypocholesterolemia, Failure to thrive, Hyperactivity, Hypothyroidism |
OMIM:610883 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Athetosis, Hepatomegaly, Microvesicular hepatic steatosis, Dystonia, Limb joint contracture, Ling... |
ORPHA:404454 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Graves disease, Goiter |
OMIM:275000 |
Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... |
OMIM:211350 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Gait disturbance, Large for gestational age, Neonatal hypoglycemia |
ORPHA:457485 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Arthrogryposis multiplex congenita, Hyperactivity, Hepatic steatosis, Hypothyroid... |
ORPHA:254346 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Pancreatic... |
OMIM:276700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chroni... |
ORPHA:98849 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormality of the intrahepatic bile duct, Failure to thrive, Attention deficit hyperactivity dis... |
ORPHA:485405 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Ataxia, Diabetes mellitus, Lethargy |
ORPHA:2609 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... |
ORPHA:958 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Failure to thrive... |
ORPHA:508 |
Fibrochondrogenesis 1 |
|
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... |
OMIM:228520 |
Simpson-Golabi-Behmel Syndrome |
|
Toe syndactyly, Prolonged QT interval, Talipes equinovarus, Cardiomyopathy, Bundle branch block, ... |
ORPHA:373 |
Dextrocardia |
|
Abnormal foot morphology, Abnormality of the spleen, Congenital hip dislocation, Abnormal EKG, T-... |
ORPHA:1666 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait, Obesity |
ORPHA:3077 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced ejection fraction, Limited knee flexion/extension, Pes cavus, Calf muscle hypertrophy, Ri... |
ORPHA:268 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Dystonia, Splenomegaly, Hyperactivity, Ataxia, Elevated hepatic transaminase, Diffi... |
OMIM:615673 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Diabetes insipidus, Failure to thrive, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:95496 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Lethargy |
OMIM:210210 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... |
OMIM:616878 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:226307 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Hyperactivity, Abdominal obesity, Gait ataxia, Delayed puberty |
OMIM:300354 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... |
ORPHA:31826 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia |
OMIM:614104 |
Fructose Intolerance, Hereditary |
|
Lethargy, Hepatomegaly, Hypoglycemia, Failure to thrive, Glycosuria, Cirrhosis, Hepatic steatosis... |
OMIM:229600 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Prolonged QT interval, Arrhythmia |
ORPHA:480864 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Decreased succinic semialdehyde dehydrogenase level |
OMIM:271980 |
Phocomelia, Schinzel Type |
|
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... |
ORPHA:2879 |
Occipital Horn Syndrome |
|
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... |
ORPHA:198 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Xanthelasma, ... |
OMIM:232200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Failure to thrive, Shuffling gait, Cholelithiasis, Hyperactivity, Flexion contracture, Decreased ... |
OMIM:300534 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity |
ORPHA:369939 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... |
ORPHA:85165 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... |
OMIM:114290 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Failure to thrive, Weight loss, Fat... |
ORPHA:275761 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Polydactyly |
ORPHA:93400 |
17Q24.2 Microdeletion Syndrome |
|
Upper limb undergrowth, Micrognathia, Prolonged QT interval, Pulmonic stenosis, Abnormality of th... |
ORPHA:529962 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... |
ORPHA:358 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Obesity |
OMIM:301013 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hemobilia, Weight loss, Hepatic necrosis, ... |
ORPHA:88673 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... |
ORPHA:860 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity |
ORPHA:412035 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis |
ORPHA:231625 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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