Gene Summary

Name:
SRY (sex determining region Y)-box 4
Synonyms:
Sox-4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gallbladder morphology Sox4em1(IMPC)Mbp HET Early adult 0.00
increased circulating alkaline phosphatase level Sox4em1(IMPC)Mbp HET   Early adult 2.39×10-05
abnormal hindbrain development Sox4em1(IMPC)Mbp HOM E9.5 0.00
decreased body length Sox4em1(IMPC)Mbp HET Early adult 2.63×10-09
enlarged uterus Sox4em1(IMPC)Mbp HET Early adult 0.00
increased freezing behavior Sox4em1(IMPC)Mbp HET Early adult 7.11×10-12
abnormal heart morphology Sox4em1(IMPC)Mbp HOM E9.5 0.00
abnormal brain morphology Sox4em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube closure Sox4em1(IMPC)Mbp HOM E9.5 0.00
persistence of hyaloid vascular system Sox4em1(IMPC)Mbp HET   Early adult 5.47×10-05
preweaning lethality, complete penetrance Sox4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal uterus morphology Sox4em1(IMPC)Mbp HET Early adult 0.00
abnormal retina blood vessel morphology Sox4em1(IMPC)Mbp HET Early adult 4.62×10-07
abnormal neural tube morphology Sox4em1(IMPC)Mbp HOM E9.5 0.00
abnormal bone structure Sox4em1(IMPC)Mbp HET   Early adult 8.97×10-05
abnormal retina morphology Sox4em1(IMPC)Mbp HET Early adult 2.56×10-06
abnormal retina vasculature morphology Sox4em1(IMPC)Mbp HET Early adult 2.85×10-06
enlarged gallbladder Sox4em1(IMPC)Mbp HET Early adult 0.00
decreased brain size Sox4em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E9.5

Images

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

Human diseases caused by Sox4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sox4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... ORPHA:1465

The table below shows human diseases predicted to be associated to Sox4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr... ORPHA:295
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis, Anemia OMIM:236750
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Anemia, Hydrops fet... ORPHA:3405
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu... ORPHA:45452
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Splenomegaly... OMIM:619462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Transaldolase Deficiency
Hydrops fetalis, Anemia, Coarctation of aorta, Hepatosplenomegaly, Thrombocytopenia, Edema, Atria... ORPHA:101028
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Single umbilical artery, Atrioventricular canal defect, Aganglionic mega... ORPHA:210122
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu... OMIM:613426
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Methimazole Embryofetopathy
Polyhydramnios, Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarct... ORPHA:1923
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Tricuspid... ORPHA:2414
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Anemia, Hydrops fetalis, Pericarditis, Splenomegaly, Ab... ORPHA:163596
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit... OMIM:619433
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnormality of the spleen, Intesti... ORPHA:93941
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula OMIM:619083
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Polyhydramnios, Capillary leak, Lymphedema, Pleural ef... ORPHA:1041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Vacuolated lymphocytes, High palate, Ascites, Prematur... OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, H... OMIM:617021
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect, Cleft palate, Tracheoesophageal fistula ORPHA:261272
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Congenital Disorder Of Glycosylation, Type Ih
Decreased fetal movement, Perimembranous ventricular septal defect, Protein-losing enteropathy, A... OMIM:608104
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Esophageal varix, Cardiomyopathy, Ascites, Portal h... OMIM:232500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia... OMIM:618815
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Congenital Tracheal Stenosis
Abnormal tracheobronchial morphology, Abnormal bronchus morphology, Meckel diverticulum, Abnormal... ORPHA:141127
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis, Ab... ORPHA:90064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis... OMIM:265380
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Fanconi Anemia, Complementation Group B
Aplastic anemia, Single umbilical artery, Esophageal atresia, Tracheoesophageal fistula, Coarctat... OMIM:300514
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Abnormality of the amniotic fluid OMIM:608540
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Esophageal atresia, Dextrocar... OMIM:314390
Congenital Tracheomalacia
Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Premature birth, Car... ORPHA:95430
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Hydrops fetalis, Anemia, Pleural... ORPHA:846
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Anemia, Ascites, Premature birth, Thrombocytopenia, Patent ductu... ORPHA:2123
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Neuraminidase Deficiency
Hydrops fetalis, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenom... OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Tricu... OMIM:611376
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphol... ORPHA:292
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Brad... OMIM:616201
Beta-Thalassemia
Irritability, Hepatomegaly, Abnormality of iron homeostasis, Reduced bone mineral density, Cholel... ORPHA:848
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Fliedner-Zweier Syndrome
Hypoplastic aortic arch, High palate, Tracheoesophageal fistula, Anal atresia, Bicuspid aortic va... OMIM:620511
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Dysphagia OMIM:255100
Congenital Contractural Arachnodactyly
Aortic aneurysm, High palate, Tracheoesophageal fistula, Intestinal malrotation, Mitral valve pro... ORPHA:115
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Fetal Gaucher Disease
Decreased fetal movement, Stillbirth, Hydrops fetalis, Pancytopenia, Neonatal death, Thrombocytop... ORPHA:85212
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic ste... OMIM:615415
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Patent ductus arteriosus, Tachycardia, Atrial septal defect,... OMIM:613870
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Generalized ed... OMIM:617478
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Dextrocardia, Pancytopenia, Glossitis, Megaloblastic anemia, High palate, Tracheoesophage... OMIM:277380
Timothy Syndrome
Single umbilical artery, Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arte... OMIM:601005
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu... ORPHA:766
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrotat... ORPHA:3426
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, B lymphocy... OMIM:619705
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Elevated circulating hepatic transamina... ORPHA:65682
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Absence Of The Pulmonary Artery
Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale... ORPHA:980
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, High palate, Pulmo... OMIM:617877
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Ascites, Pericardial constriction, Myocardial fibrosis... OMIM:253250
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Gastroesophageal reflux, Coarctation of aorta, Secundum... OMIM:600987
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization... ORPHA:891
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Splenomegaly ORPHA:2204
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Patent ductus arteriosus ORPHA:77298
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Feingold Syndrome 1
Decreased fetal movement, Gastrointestinal atresia, Tricuspid atresia, Polyhydramnios, Esophageal... OMIM:164280
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Left-to-right shunt... ORPHA:363444
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Coproporphyria, Hereditary
Hypertension, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, Increased ... OMIM:121300
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Chondrodysplasia, Blomstrand Type
Stillbirth, Polyhydramnios, Hydrops fetalis, Preductal coarctation of the aorta, Premature birth,... OMIM:215045
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th... ORPHA:49827
Esophageal Atresia
Polyhydramnios, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morph... ORPHA:1199
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyperinsulinemic... ORPHA:276608
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Neonatal death, N... OMIM:620014
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death OMIM:618839
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, High palate OMIM:618205
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death OMIM:618835
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Vacterl/Vater Association
Single umbilical artery, Polyhydramnios, Anorectal anomaly, Abnormal cardiac septum morphology, T... ORPHA:887
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Premature birth, Anemia OMIM:618838
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Polyhydramnios, Esophageal varix, Ascites, Portal hypertension, Hepatos... ORPHA:367
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Hyperbiliverdinemia
Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis OMIM:614156
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Tracheomalacia, Tracheoesophageal fistula, Coarctation of aorta, Ventricular sep... ORPHA:268249
Snakebite Envenomation
Hypotension, Cerebral ischemia, Angioedema, Cardiogenic shock, Epistaxis, Thrombocytopenia, Intra... ORPHA:449285
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Achondrogenesis, Type Ib
Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis, Edema OMIM:600972
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutr... OMIM:616738
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, High palate, Decrea... OMIM:618804
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Anemia, Intestinal perforation, Tracheoesophageal fistula, Thrombocy... ORPHA:537
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Fetal skin edema, Pericardial effusion, Splenomegaly, Decreased fetal m... OMIM:608776
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1834
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Retinal degeneration, Hyperalaninemia, Cholelithiasis OMIM:620646
Heart Defects, Congenital, And Other Congenital Anomalies
Single umbilical artery, Perimembranous ventricular septal defect, Transposition of the great art... OMIM:600001
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Breech presentation, Fetal akinesia sequence OMIM:615731
Variegate Porphyria
Tachycardia, Increased fecal protoporphyrin concentration OMIM:176200
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hydrops fetalis, Abnormal heart valve morphology, Vacuolated lymphocyte... OMIM:230500
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic... OMIM:616897
Gaucher Disease Type 1
Osteopenia, Anorexia, Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelith... ORPHA:77259
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Dysphagia, Patent ductus arteriosus, Ventricular septal... OMIM:616276
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hydrops fetalis, Anemia of inadequate production, Hypertrophic cardio... OMIM:613673
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Submucous clef... OMIM:619227
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Truncus arterios... ORPHA:2538
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276556
Beta-Thalassemia Intermedia
Decreased liver function, Osteopenia, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Chol... ORPHA:231222
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Sialidosis Type 2
Ascites, Hydrops fetalis, Splenomegaly, Pedal edema ORPHA:87876
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lethal Congenital Contracture Syndrome 10
Narrow palate, Hydrops fetalis, Fetal akinesia sequence, High palate, Hypoplasia of the thymus, C... OMIM:617022
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Noonan Syndrome 12
Polyhydramnios, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect, Su... OMIM:618624
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi... OMIM:620244
Czeizel-Losonci Syndrome
High palate, Dextrocardia, Tracheoesophageal fistula, Thickened nuchal skin fold ORPHA:2437
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Combined Oxidative Phosphorylation Deficiency 57
Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal... OMIM:620167
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Schisis Association
Premature birth, Cleft palate, Tracheoesophageal fistula, Anal atresia ORPHA:63862
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se... OMIM:609029
Caroli Disease
Anorexia, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegal... ORPHA:53035
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration, Cholelithiasis ORPHA:79278
Thakker-Donnai Syndrome
Transposition of the great arteries, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresi... ORPHA:1780
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Chromosome 9P Deletion Syndrome
Narrow palate, Perimembranous ventricular septal defect, High, narrow palate, Patent ductus arter... OMIM:158170
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Abnormality of prenatal development or birth, Sinus b... ORPHA:101016
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteri... ORPHA:79329
Opitz Gbbb Syndrome
Tracheomalacia, Aortic root aneurysm, Patent foramen ovale, Ectopic anus, High palate, Tracheoeso... ORPHA:2745
Fanconi Anemia, Complementation Group D2
Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tracheoesophageal fistula, Bone marr... OMIM:227646
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar... OMIM:300257
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Decreased fetal movement OMIM:253300
Lymphatic Malformation 6
Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Gastroesophageal reflux, Chylothorax, ... OMIM:616843
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Tularemia
Anemia, Pleural effusion, Leukocytosis, Thrombocytopenia, Tachycardia, Cutaneous abscess, Brain a... ORPHA:3392
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Congenital Fibrinogen Deficiency
Internal hemorrhage, Splenic rupture, Volvulus, Right ventricular hypertrophy, Left ventricular h... ORPHA:335
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular hypertrophy, Pe... OMIM:612561
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Premature birth, Tachycardia ORPHA:70587
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Abnormal cortical bone morphology, Chole... OMIM:614886
High Altitude Pulmonary Edema
Tachycardia, Pulmonary edema, Leukocytosis ORPHA:330012
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se... ORPHA:96170
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Accessory spleen, Interrupte... OMIM:618280
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Anal atresia, Increased nuchal translucency, Cleft palate, Paten... ORPHA:261344
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... ORPHA:90647
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida ORPHA:2476
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis... ORPHA:280356
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Unconjugated hyperbilirubinemi... OMIM:266200
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Tracheal atresia, Patent ductus arteriosus, Abnormal cardia... OMIM:601612
Mosaic Trisomy 9
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morp... ORPHA:99776
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Bicornuate uterus, Abnormality of the uterus, Iris coloboma ORPHA:2143
Fanconi Anemia
Abnormal aortic valve morphology, Anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula,... ORPHA:84
Immunodeficiency, Common Variable, 13
Fetal distress, Polyhydramnios, Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology, Dysphagia ORPHA:79264
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Cardiomyopathy, Abnormal hear... ORPHA:354
Trisomy 13
High, narrow palate, Hydrops fetalis, Cleft palate, Patent ductus arteriosus, Atrial septal defec... ORPHA:3378
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Gastroesophageal reflux, Bradycardia OMIM:617182
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Wolff-Parkinson-White syndrome, ... OMIM:619343
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Furrowed tongue, Anorectal anomaly ORPHA:1839
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Abnormality of the amniotic fluid, Arrhythmia, Dilated... OMIM:609015
Ogden Syndrome
Left atrial enlargement, Premature ventricular contraction, Dysphagia, Decreased fetal movement, ... OMIM:300855
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Atrial flutter, Wolff-Parkinson-White syndrome, Tachyc... ORPHA:137675
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Incr... OMIM:232800
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Esophageal atresia, Tracheoesophageal fistula, Pulmonary artery stenosis... OMIM:301030
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft pal... OMIM:153400
Distal Duplication 5Q
Hypospadias, Chorioretinal coloboma, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:96097
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Dysphagia, Tracheoesophageal fistula ORPHA:142
Relapsing Fever
Anemia, Hypotension, Leukocytosis, Neutrophilia, Leukopenia, Epistaxis, Thrombocytopenia, Tachyca... ORPHA:91547
Mirizzi Syndrome
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholel... ORPHA:521219
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Retinal dystrophy, Microvesicular hepatic steatosis, Hypogonadism OMIM:619273
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Abnormal tricuspid valve morphology, Abnormal heart morphology, Tachycardia,... ORPHA:485405
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Alg8-Cdg
Abnormality of the gastrointestinal tract, Anemia, Hydrops fetalis, Ascites, Premature birth, Thr... ORPHA:79325
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula ORPHA:2591
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... OMIM:611705
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Arrhythmia, Atria... OMIM:249270
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells... OMIM:224120
Gaucher Disease Type 3
Hydrops fetalis, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcificatio... ORPHA:77261
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Female... OMIM:240300
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis OMIM:235700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis, Dysphagia ORPHA:477774
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure, Perimembranous ventricular septal defect, Gastroesophageal reflux, Prot... OMIM:608779
Acrocardiofacial Syndrome
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... ORPHA:2008
Fumarase Deficiency
Perimembranous ventricular septal defect, Bilateral fetal pyelectasis, Polyhydramnios, Necrotizin... OMIM:606812
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Chronic Granulomatous Disease
Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly, Abnormality of neutrophils ORPHA:379
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Noonan Syndrome 2
Atrioventricular canal defect, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, High palate,... OMIM:605275
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Elevated circulating creatine kinase concentration, Cholelithiasis OMIM:618775
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Coarctation of aorta,... OMIM:614921
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery atherosclerosis, Angina pectoris, Low-output congestive heart failure, Vacuolated... ORPHA:565612
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia, Patent ductus arteriosus OMIM:126320
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Hyperactivity, Low frustration tolerance, Decreased testicular size, Restlessness... OMIM:300534
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Acces Syndrome
Tracheoesophageal fistula OMIM:619959
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia OMIM:141000
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, High palate, Decreased fetal movement OMIM:255320
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis, Optic disc pallor, ... OMIM:213700
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ... ORPHA:90033
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Polyhydramnios, Anemia, Ascites, Neonatal death, Hepatosplenomegaly, Sp... OMIM:608013
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chronic lymphatic le... ORPHA:98849
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonary ar... ORPHA:505248
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Martinez-Frias Syndrome
Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal atresia, Duoden... OMIM:601346
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Gastroes... OMIM:301040
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect OMIM:613759
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Dysphagia, Hypertrophic cardiomyopathy ORPHA:368
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Rhombencephalosynapsis