Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... |
ORPHA:446 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... |
OMIM:231100 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Cirrhosis, Hyperammonemia, ... |
OMIM:271500 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... |
OMIM:232400 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Hepatic... |
OMIM:616719 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, H... |
OMIM:619048 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Generalized limb muscle atrophy, Hepatic fibrosis, Frequent falls, Intention tremor, Progressive ... |
ORPHA:466794 |
Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... |
OMIM:618782 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... |
ORPHA:280356 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepati... |
OMIM:602579 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Hypoglycemia, Pneumonia, Cardiomegaly, Bradycar... |
OMIM:601005 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Ascites, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradyca... |
OMIM:261740 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe... |
OMIM:618815 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramyocellular lip... |
ORPHA:681 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Ventricular tachycardia, Ventricul... |
OMIM:212138 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia |
OMIM:614302 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoalbuminemia, Hypoglycemia, Hepatocellular necrosis, Elevated hepatic transamina... |
OMIM:251880 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Hepatic fibrosis, Cirrhosis, Cholestasis, Generalized hypotonia, Hypotonia |
OMIM:609313 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Oc... |
OMIM:615630 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Vocal cord paresis |
OMIM:158580 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia |
ORPHA:366 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Skeletal muscle atrophy, Portal fibrosis, Hepatic fibrosis, E... |
ORPHA:370 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... |
ORPHA:79240 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
Coach Syndrome 2 |
|
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... |
OMIM:619111 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypoalbu... |
ORPHA:79319 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus |
ORPHA:2377 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, S... |
OMIM:606777 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:201475 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... |
ORPHA:71277 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Elevated hepatic transaminase, Decreased serum zinc, Hepatic steatosis, Hepatos... |
ORPHA:541423 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated hep... |
ORPHA:264580 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Distal lower limb muscle weakness |
OMIM:608634 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cardiomyopathy, Cirrhosis, Hepatic... |
OMIM:606069 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Pleoconial Myopathy With Salt Craving |
|
Paralysis, Proximal amyotrophy, Myopathy, Neonatal hypotonia |
OMIM:262900 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... |
OMIM:614954 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis |
ORPHA:1909 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... |
OMIM:615779 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Myopathy, Hepatomegaly, Hypoglyc... |
OMIM:212140 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis, Distal lower limb muscle weakness |
OMIM:158590 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... |
OMIM:613759 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Distal amyotrophy, Lower limb muscle we... |
OMIM:607641 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... |
OMIM:278000 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Butyrylcholinesterase Deficiency |
|
Paralysis, Abnormality of the liver |
ORPHA:132 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... |
OMIM:115197 |
Necrotizing Enterocolitis |
|
Shock, Ascites, Peritonitis, Hyperglycemia, Abnormal heart morphology, Edema, Abnormal glucose ho... |
ORPHA:391673 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Facial edema |
ORPHA:95717 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Tachycardia, Bradycardia, Respiratory tract infection, Pulmonary edema, Cardiac arrest... |
ORPHA:70587 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyopathy, Bra... |
OMIM:609286 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Decreased liver function, Oligohydramnios, Arrhythmia |
OMIM:617021 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Knee fle... |
OMIM:616286 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Shoulder g... |
ORPHA:263297 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:614947 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Pedal edema |
OMIM:126320 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Donohue Syndrome |
|
Fasting hypoglycemia, Skeletal muscle atrophy, Hepatic fibrosis, Hyperglycemia, Pancreatic islet-... |
OMIM:246200 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Hepatic failure, Elevated... |
OMIM:617156 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Patent forame... |
ORPHA:542306 |
Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Hepatomegaly, Hepatic fibrosis, Muscular hypotonia of the trunk, Spastic tetraplegia, S... |
OMIM:619487 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... |
OMIM:616299 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... |
ORPHA:139491 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Spasticity, Abnormal circulating leucine concentration, Hypotonia |
ORPHA:6 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... |
ORPHA:99095 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Knee flexion ... |
ORPHA:79322 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
Coach Syndrome 1 |
|
Dystonia, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis,... |
OMIM:216360 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Syncope, Abnormal EKG, Abnormal left ventricular function, Aortic valve st... |
ORPHA:2041 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... |
ORPHA:860 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... |
ORPHA:1209 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:249670 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... |
ORPHA:101330 |
Porphyria, Acute Hepatic |
|
Paralysis, Hypotonia, Respiratory paralysis, Generalized hypotonia |
OMIM:612740 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ectopia of the spleen, Ventricular septal defect, Atrioventricular canal defect |
OMIM:613751 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Cholelithiasis, Bra... |
OMIM:618775 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Macroglossia, Ataxia, Cholestasis |
OMIM:266920 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Contractures of the joints of the lower limbs, Skeletal muscle atrophy |
OMIM:613710 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy, Gait... |
OMIM:606183 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Ataxia |
ORPHA:3156 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Dysmetria, Ataxia, Hepatic steatosis, Diabetes mellitus, Flexion ... |
OMIM:616263 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Diabetes mellitus, Insulin resistance, Hepatic steatosis |
OMIM:615980 |
Aapoaiv Amyloidosis |
|
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... |
ORPHA:439232 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... |
ORPHA:49827 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hypoglycemia, Restrictive cardiomyopathy |
ORPHA:2022 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Flexion contracture |
OMIM:614498 |
Joubert Syndrome 9 |
|
Oculomotor apraxia, Hepatic fibrosis |
OMIM:612285 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia, Flexion contracture, Camptodactyly, Recurrent respiratory infections |
OMIM:610015 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Decreased liver function, Elevated hepat... |
OMIM:246900 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276575 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... |
OMIM:617205 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Congestive hea... |
OMIM:605676 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... |
OMIM:607598 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Splenome... |
ORPHA:64743 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... |
OMIM:616812 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Hypoketotic hypoglycemia, Palpitations, Hyper... |
ORPHA:276556 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Recurrent aspiration p... |
ORPHA:70 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Glucose intolerance, Impaired glucose tolerance, Bradycardia, Joint contr... |
OMIM:614407 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Pulmonary artery hypoplasi... |
OMIM:613426 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Ascites, Bradycardia, Decreased liver function, Elevated hepat... |
OMIM:617397 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation, Insulin re... |
OMIM:613327 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Left atrial enlargement, Syncope, Abnormal left ventri... |
ORPHA:75249 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
Hypertriglyceridemia 1 |
|
Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance |
OMIM:144600 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... |
ORPHA:53035 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation, Oculomotor apraxia, Ataxia, Generalized hypotonia, Hyp... |
OMIM:610688 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Generalized amyotrophy, Splenomegaly,... |
ORPHA:171 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Increased hepati... |
OMIM:613027 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Ascites, Edema, Arthrogryposis multiplex congenita, Cardiomyopathy, Poly... |
OMIM:232500 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... |
ORPHA:57777 |
Acute Peripheral Arterial Occlusion |
|
Paralysis, Limb muscle weakness |
ORPHA:90064 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Facial edema |
ORPHA:95716 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrho... |
ORPHA:231226 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hy... |
OMIM:615524 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Lower limb mus... |
OMIM:606721 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Cholestasis |
OMIM:615382 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger |
ORPHA:1388 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Midsystolic murmur, Atrial septal d... |
ORPHA:1677 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... |
OMIM:618641 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance |
ORPHA:181393 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Hypoglycemia, Cardiomyopathy |
ORPHA:67048 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Edema, Cirrhosis, Hepatosplenomegaly, Atrial septal de... |
ORPHA:101028 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Elevated hepatic transaminase, Hypocholesterolem... |
OMIM:212065 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Poor coordination, Insulin resistance, Left ventricular hypertrophy, Ataxia, Di... |
OMIM:209900 |
Abetalipoproteinemia |
|
Babinski sign, Hepatomegaly, Decreased HDL cholesterol concentration, Myopathy, Hepatic fibrosis,... |
ORPHA:14 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios |
ORPHA:3469 |
Illum Syndrome |
|
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita |
OMIM:208155 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Beta-Thalassemia Major |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, Spleno... |
ORPHA:231214 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Hepatic failure... |
ORPHA:156 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... |
ORPHA:26793 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Decreased liver ... |
OMIM:606003 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Hepatic cysts, Stillbirth, Polyhydramnios, Atrial septal defect |
OMIM:263630 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated circulatin... |
OMIM:615486 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Polyhydramnios, Pul... |
OMIM:615355 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... |
ORPHA:439 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Glucose intolerance, Cardiomegaly, Cardiomyopathy, Spleno... |
OMIM:235200 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Immunodeficiency 47 |
|
Hepatomegaly, Prolonged neonatal jaundice, Hepatic fibrosis, Elevated hepatic transaminase, Splen... |
OMIM:300972 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Diabetes... |
OMIM:249270 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Trimethylaminuria |
|
Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly |
OMIM:602079 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morpholo... |
ORPHA:185 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal c... |
ORPHA:186 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Palpita... |
ORPHA:324575 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis, Hypokalemia |
OMIM:613345 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... |
ORPHA:2299 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Diabetes mellitus |
ORPHA:411590 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis |
OMIM:607361 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis |
OMIM:615415 |
Lambert Syndrome |
|
Jaundice, Ventricular septal defect, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Atrial septal defect, Oligohydramnios, Atrial flutter, Overriding aort... |
OMIM:601927 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Oligohydramnios, P... |
ORPHA:139466 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Maturity-onset diabetes of the young, Cerebral palsy, Abnormal circulating neopterin concentratio... |
ORPHA:1578 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Farber Disease |
|
Skeletal muscle atrophy, Hepatic fibrosis, Myoclonus, Paraparesis, Intrahepatic cholestasis with ... |
ORPHA:333 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot, Polyhydramnios |
OMIM:618624 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... |
ORPHA:552 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Pancreatitis, Hepatic steatosis, Elevated circulating ... |
OMIM:619386 |
Bile Acid Malabsorption, Primary, 2 |
|
Decreased circulating chenodeoxycholic acid concentration, Elevated circulating aspartate aminotr... |
OMIM:619481 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... |
OMIM:208085 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Splenomegaly |
ORPHA:664 |
Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypertonia, Gene... |
OMIM:272750 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, A... |
ORPHA:90308 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Hypertension, Ventricular septal defect, Tachycardia, Atrial septal defect, Contractures of the i... |
OMIM:613870 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Rhabdomyolysis, Hypoglycemia |
OMIM:618120 |
Danon Disease |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... |
OMIM:300257 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hypoketotic hypog... |
OMIM:231530 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Lujo Hemorrhagic Fever |
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Myocarditis, Shock, Subconjunctival hemorrhage, Fulminant hepatitis, Bradycardia, Facial edema, C... |
ORPHA:319213 |
Adams-Oliver Syndrome 6 |
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Portal hypertension, Hepatic fibrosis |
OMIM:616589 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Infantile Liver Failure Syndrome 2 |
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Hypoglycemia, Cardiomyopathy, Acute hepatic failure, Elevated hepatic transaminase, Jaundice |
OMIM:616483 |
Atrial Septal Defect 1 |
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Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... |
OMIM:108800 |
Peroxisome Biogenesis Disorder 1B |
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Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Cirrhosis, Generalized hypotonia, Neonatal hypotonia |
OMIM:601539 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Atrial Septal Defect, Ostium Primum Type |
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Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Generalized amyotrophy |
OMIM:610006 |
Coffin-Siris Syndrome 10 |
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Ventricular septal defect |
OMIM:618506 |
Congenital Rubella Syndrome |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormality of the p... |
ORPHA:290 |
Tropical Endomyocardial Fibrosis |
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Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Elevated hepatic transaminase, Decreased liver function, Atrial septal defect, Hypoglycemia |
OMIM:615160 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Ventricular tachycardia, Cardiome... |
OMIM:600649 |
Tyrosinemia, Type I |
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Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hypertyrosinemia, Splenomegaly, Cirrhosis, ... |
OMIM:276700 |
Joubert Syndrome With Hepatic Defect |
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Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Elevated hepatic transam... |
ORPHA:1454 |
Absence Of The Pulmonary Artery |
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Truncus arteriosus, Pulmonary edema, Abnormal EKG, Recurrent respiratory infections, Reduced ejec... |
ORPHA:980 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
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Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... |
OMIM:261680 |
Spinocerebellar Ataxia Type 3 |
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Clumsiness, Dystonia, Skeletal muscle atrophy, Vocal cord paralysis, Abnormality of extrapyramida... |
ORPHA:98757 |
Chromosome 16P13.3 Duplication Syndrome |
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Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Paralysis, Parkinsonism |
OMIM:105500 |
Atrial Septal Defect, Ostium Secundum Type |
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Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
Argininosuccinic Aciduria |
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Hepatomegaly, Hepatic fibrosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Ataxia, Eleva... |
OMIM:207900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Limb muscle weakness, Glucose intolerance, Impaired glucose tolerance, Facial palsy, Abnormality ... |
OMIM:610131 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Macr... |
OMIM:256810 |
Congenital Disorder Of Glycosylation, Type It |
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Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Hypoglycemia, Increased hepatic ... |
OMIM:614921 |
Hadziselimovic Syndrome |
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Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Osteootohepatoenteric Syndrome |
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Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Increased serum... |
OMIM:619377 |
Senior-Boichis Syndrome |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Increase... |
ORPHA:84081 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... |
OMIM:619167 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Cardiomegal... |
ORPHA:42 |
Isolated Biliary Atresia |
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Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Congenital diaphragmatic hernia, Ventricular septal defect, Abnormality of the pulmonary artery, ... |
ORPHA:1166 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Paralysis, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Bile du... |
OMIM:203700 |
Laubry-Pezzi Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... |
ORPHA:99094 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Acute pancreatitis, Diffuse alveolar hemo... |
ORPHA:99827 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect |
OMIM:616901 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Macroglossia, Edema, Bradycardia, Prolonged neonatal jaundice |
ORPHA:90673 |
Caroli Syndrome |
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Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
Eisenmenger Syndrome |
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Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... |
ORPHA:97214 |
Laryngeal Abductor Paralysis |
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Paralysis |
OMIM:308850 |
46,Xx Sex Reversal 5 |
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Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... |
OMIM:618901 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
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Hypouricemia |
OMIM:307830 |
Sepsis In Premature Infants |
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Hepatomegaly, Edema, Tachycardia, Bradycardia, Splenomegaly, Decreased liver function, Hypotensio... |
ORPHA:90051 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... |
OMIM:613404 |
Hyperkalemic Periodic Paralysis |
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Hyperkalemia, Hyponatremia, Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Hypok... |
ORPHA:682 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Hyperkalemia, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intram... |
ORPHA:79102 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Meckel Syndrome, Type 6 |
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Bile duct proliferation, Cystic liver disease, Hepatic fibrosis |
OMIM:612284 |
Cardiomyopathy, Dilated, 1Y |
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Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Tetanus |
|
Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
16P13.11 Microduplication Syndrome |
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Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
ORPHA:261243 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Arrhythmia, Pulmonary embolism, Elev... |
ORPHA:94093 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle morpholog... |
ORPHA:1055 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Hypoglycemia, Atrial fibrillation, Ventricular tachycard... |
ORPHA:137675 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy, Splenomeg... |
OMIM:616651 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Atrial septal d... |
ORPHA:392 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance |
OMIM:309620 |
Ebstein Malformation Of The Tricuspid Valve |
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Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Ebstein anomaly of the t... |
ORPHA:1880 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hypoglycem... |
OMIM:611126 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Periportal fibrosis, Flexion contracture |
OMIM:263210 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Limb hypertonia, Bradycardia, Neonatal hypoglycemia |
ORPHA:565624 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Lymphedema-Distichiasis Syndrome |
|
Lymphedema, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Predominantly lower limb ... |
OMIM:153400 |
Primary Angiitis Of The Central Nervous System |
|
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism |
ORPHA:140989 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Cholestasis, Jaundice |
OMIM:201400 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Abnormalit... |
OMIM:222470 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Hypertonia |
ORPHA:2031 |
Joubert Syndrome 1 |
|
Hepatic fibrosis, Macroglossia, Oculomotor apraxia, Ataxia, Generalized hypotonia, Hypotonia, Hem... |
OMIM:213300 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia, Flexion contracture |
OMIM:614653 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Polyhydramnios, Pulmoni... |
OMIM:608149 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Hemiparesis, Cirrhosis, Hypertonia, Portal hypertension |
ORPHA:974 |
Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... |
OMIM:248950 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Facial hypotonia, Cardiomegaly, Cholelithiasis, Bradycardia, Abnormal cardiac s... |
ORPHA:97297 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
Criss-Cross Heart |
|