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Gene: Sox4 MGI:98366

Gene Summary

Name:

SRY (sex determining region Y)-box 4

Synonyms:

Sox-4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
enlarged uterus	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged gallbladder	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
increased freezing behavior	Sox4^em1(IMPC)Mbp	HET	Early adult	3.73×10^-11
decreased body length	Sox4^em1(IMPC)Mbp	HET	Early adult	2.60×10^-09
increased circulating alkaline phosphatase level	Sox4^em1(IMPC)Mbp	HET	Early adult	2.39×10^-05
preweaning lethality, complete penetrance	Sox4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal uterus morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal gallbladder morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
decreased brain size	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal retina vasculature morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	6.95×10^-06
abnormal bone structure	Sox4^em1(IMPC)Mbp	HET	Early adult	9.16×10^-05
abnormal brain morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal heart morphology	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal retina morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	3.62×10^-06
abnormal retina blood vessel morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	5.45×10^-07
abnormal neural tube closure	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
persistence of hyaloid vascular system	Sox4^em1(IMPC)Mbp	HET	Early adult	2.37×10^-05
abnormal hindbrain development	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00

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Viewing: all phenotypes

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

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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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.

Human diseases associated with Sox4 (2 diseases)
Human diseases predicted to be associated with Sox4 (1416 diseases)

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		Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465

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

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	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	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr...	ORPHA:295
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Prenatal movement abn...	ORPHA:45453
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	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, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar...	ORPHA:3405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Congenital Heart Block	Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges...	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	Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect...	ORPHA:1909
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	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	Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p...	OMIM:619462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ...	ORPHA:210122
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor...	ORPHA:101028
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta...	ORPHA:1923
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosis, Restrictive...	OMIM:619433
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrop...	ORPHA:163596
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, Chylopericardiu...	ORPHA:2414
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Tracheoesophageal fistula, Abnormal cardiac septum morphology, Trachea...	ORPHA:93941
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar...	ORPHA:860
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Edema, Microcytic anemia, Pulmonary embolism, Congestive heart failu...	ORPHA:90308
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn...	ORPHA:563
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,...	ORPHA:1041
Infantile Sialic Acid Storage Disease	Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Hy...	OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
17Q12 Microduplication Syndrome	Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Polyhydramnios	ORPHA:261272
Congenital Disorder Of Glycosylation, Type Ih	Decreased fetal movement, Edema, Patent ductus arteriosus, Anemia, Perimembranous ventricular sep...	OMIM:608104
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Glycogen Storage Disease Iv	Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Esophageal varix, Hydrops f...	OMIM:232500
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi...	OMIM:618815
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne...	OMIM:265380
Congenital Tracheal Stenosis	Fetal ascites, Polyhydramnios, Ascending aorta hypoplasia, Pulmonary artery atresia, Anomalous or...	ORPHA:141127
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheo...	OMIM:300514
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Transposition of the...	OMIM:314390
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent...	ORPHA:79095
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis	OMIM:608540
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mungan Syndrome	Tricuspid regurgitation, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis, Perim...	OMIM:611376
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Diffuse Neonatal Hemangiomatosis	Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thro...	ORPHA:2123
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Neuraminidase Deficiency	Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lymphocytes, Hydrops...	OMIM:256550
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Single ventricle, Premature birth, B...	ORPHA:95430
Congenital Enterovirus Infection	Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ...	ORPHA:292
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Mahvash Disease	Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Dysphagia	OMIM:255100
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Reduced bone mineral densit...	ORPHA:848
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,...	OMIM:615415
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension	OMIM:619003
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Congenital Contractural Arachnodactyly	Intestinal malrotation, Tracheoesophageal fistula, Aortic aneurysm, Mitral valve prolapse, High p...	ORPHA:115
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Fetal Gaucher Disease	Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abnormality of the...	ORPHA:85212
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hyperten...	OMIM:613870
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub...	ORPHA:3426
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Tra...	OMIM:277380
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Acholic stools, Cholestatic liver disease, Cir...	ORPHA:65682
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe...	ORPHA:846
Mulibrey Nanism	Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Pericardial constri...	OMIM:253250
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo...	OMIM:617877
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Cardiac Valvular Dysplasia 1	Edema, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tri...	OMIM:212093
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Absence Of The Pulmonary Artery	Cardiomegaly, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Patent ductu...	ORPHA:980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Per...	OMIM:600987
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Tachycardia, Increased fecal coproporp...	OMIM:121300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula	ORPHA:77298
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio...	OMIM:215045
Feingold Syndrome 1	Accessory spleen, Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhy...	OMIM:164280
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Velopharyngeal...	ORPHA:363444
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert...	ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete...	ORPHA:1329
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,...	ORPHA:276580
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula...	OMIM:613507
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Pyloric ste...	ORPHA:1199
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy...	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Anemia	OMIM:618839
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin...	ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardiomyopathy, Anemia	OMIM:618835
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis	OMIM:618205
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hypertension, Congesti...	ORPHA:367
Vacterl/Vater Association	Premature birth, Polyhydramnios, Anorectal anomaly, Tracheoesophageal fistula, Cleft palate, Sing...	ORPHA:887
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis, Anemia, Cardiomegaly	OMIM:618838
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me...	ORPHA:276575
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth	OMIM:600972
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Intracranial hemorrhage, Cerebr...	ORPHA:449285
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Tracheoesophageal fistula, Hydrops fetalis, Coarctation of aorta, Trac...	ORPHA:268249
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio...	OMIM:600001
Sandestig-Stefanova Syndrome	Decreased fetal movement, Muscular ventricular septal defect, Perimembranous ventricular septal d...	OMIM:618804
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Malabsorption, Intestinal perforation, Tracheo...	ORPHA:537
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Axial Mesodermal Dysplasia Spectrum	Premature birth, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistula, Gastroe...	ORPHA:1834
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Variegate Porphyria	Tachycardia, Increased fecal protoporphyrin concentration	OMIM:176200
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Nemaline Myopathy 9	Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence	OMIM:615731
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, ...	OMIM:230500
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Bacterial en...	ORPHA:97214
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Beta-Thalassemia Intermedia	Osteopenia, Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, O...	ORPHA:231222
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Dysphag...	OMIM:616276
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph...	OMIM:619227
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Cleft palate, Pleural e...	OMIM:616897
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276556
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresia, Rectal atre...	ORPHA:2538
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Hydrops fetal...	OMIM:617022
Sialidosis Type 2	Splenomegaly, Ascites, Hydrops fetalis, Pedal edema	ORPHA:87876
Noonan Syndrome 12	Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Su...	OMIM:618624
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort...	OMIM:601186
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Tracheoesophageal fistula, High palate, Dextrocardia	ORPHA:2437
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
Combined Oxidative Phosphorylation Deficiency 57	Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p...	OMIM:620167
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing...	OMIM:620244
Schisis Association	Anal atresia, Premature birth, Tracheoesophageal fistula, Cleft palate	ORPHA:63862
Autosomal Erythropoietic Protoporphyria	Abnormal circulating porphyrin concentration, Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ...	ORPHA:1780
Immunodeficiency, Common Variable, 13	Pancytopenia, Polyhydramnios, Acute lymphoblastic leukemia, B lymphocytopenia, Fetal distress	OMIM:616873
Chromosome 9P Deletion Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Heart murmur, Narrow pa...	OMIM:158170
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card...	ORPHA:26793
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy	OMIM:160900
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Fanconi Anemia, Complementation Group D2	Pancytopenia, Esophageal atresia, Patent ductus arteriosus, Reticulocytopenia, Tracheoesophageal ...	OMIM:227646
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Spinal Muscular Atrophy, Type I	Atrial septal defect, Decreased fetal movement, Ventricular septal defect	OMIM:253300
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Left ventricular hypertrophy, Volvulus, Internal hemorrhage, Right ...	ORPHA:335
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc...	ORPHA:79329
Opitz Gbbb Syndrome	Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Tracheoesophageal fistula, C...	ORPHA:2745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Tularemia	Brain abscess, Tachycardia, Leukocytosis, Anemia, Pleural effusion, Thrombocytopenia, Cutaneous a...	ORPHA:3392
Infant Acute Respiratory Distress Syndrome	Tachycardia, Premature birth, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema	ORPHA:70587
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure	ORPHA:90037
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Polyhydramnios	OMIM:619859
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement...	ORPHA:57777
Trisomy 1Q	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucenc...	ORPHA:261344
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Romano-Ward Syndrome	Sudden cardiac death, Abnormality of prenatal development or birth, Sinus bradycardia, Syncope, T...	ORPHA:101016
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre...	ORPHA:293964
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	ORPHA:96170
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic failure, Abnormality of the male genit...	OMIM:614886
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
High Altitude Pulmonary Edema	Leukocytosis, Tachycardia, Pulmonary edema	ORPHA:330012
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Patent duc...	OMIM:612561
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Aspleni...	ORPHA:99776
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu...	OMIM:212138
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Gm1 Gangliosidosis	Ventricular septal defect, Premature birth, Splenomegaly, Patent ductus arteriosus, Congestive he...	ORPHA:354
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia...	OMIM:266200
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus...	ORPHA:280356
Trisomy 13	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Hydrops fetalis, Cleft ...	ORPHA:3378
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Dysphagia, Abnormal heart morphology	ORPHA:79264
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Bicornuate uterus, Abnormality of the uterus, Iris coloboma	ORPHA:2143
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Meckel diverticulum, Aganglionic megacolon, Aplasia/H...	ORPHA:84
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Jaundice, Hyperuricemia, Cholelithiasis, Incr...	OMIM:232800
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa...	ORPHA:69735
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy...	OMIM:300855
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Gastroesophageal reflux, Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl...	OMIM:609015
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue	ORPHA:1839
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu...	OMIM:301030
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Cimdag Syndrome	Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Mirizzi Syndrome	Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbil...	ORPHA:521219
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Achondrogenesis	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios	ORPHA:932
Chronic Granulomatous Disease	Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheo...	ORPHA:379
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Alg8-Cdg	Abnormality of the gastrointestinal tract, Premature birth, Edema, Hydrops fetalis, Anemia, Macro...	ORPHA:79325
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
16P12.1P12.3 Triplication Syndrome	Tachycardia, High, narrow palate, Abnormal heart morphology, Abnormal tricuspid valve morphology,...	ORPHA:485405
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hypotension, Thrombocytop...	ORPHA:91547
Infantile Myofibromatosis	Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula	ORPHA:2591
Distal Duplication 5Q	Hypospadias, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Chorioretin...	ORPHA:96097
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Gaucher Disease Type 3	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Secundum atrial septal defect, Splenomegaly, Congestive heart failure, Perimem...	OMIM:608779
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Asplenia, Perifoveal ring of h...	OMIM:240300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration	OMIM:221400
Achondrogenesis Type 1B	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios	ORPHA:93298
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Dysphagia	ORPHA:477774
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Polyhydramnios, Perimembranous ventricula...	OMIM:606812
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a...	ORPHA:2008
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder...	ORPHA:171
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Achondrogenesis Type 1A	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios	ORPHA:93299
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Cholelithiasis, Elevated circulating creatine kinase concentration	OMIM:618775
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Hydrops fetalis	ORPHA:834
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, High palate, Hydrops fetalis, Polyhydramnios	OMIM:255320
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Cerebrotendinous Xanthomatosis	Optic disc pallor, Osteoporosis, Abnormal circulating cholesterol concentration, Pseudobulbar par...	OMIM:213700
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect	OMIM:613759
Acces Syndrome	Tracheoesophageal fistula	OMIM:619959
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiom...	ORPHA:565612
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal...	OMIM:608013
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat...	ORPHA:90033
Boomerang Dysplasia	Hydrops fetalis, Polyhydramnios	ORPHA:1263
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Protruding tongue, Reduced alpha/beta synthesis ratio, Hypochromic mic...	OMIM:301040
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Peptic ulcer,...	ORPHA:98849
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden...	OMIM:601346
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong...	ORPHA:1880
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Low frustration tolerance, Chol...	OMIM:300534
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Patent ductus arteriosus, Congestive hear...	ORPHA:505248
Rhombencephalosynapsis	Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia	ORPHA:59315
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Attention deficit hyperactivity ...	ORPHA:3166
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V...	ORPHA:568051
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Osteoporosis, Elevated circulating creatinine conc...	ORPHA:232
Sepsis In Premature Infants	Tachycardia, Premature birth, Edema, Splenomegaly, Leukocytosis, Gastrointestinal dysmotility, En...	ORPHA:90051
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Tracheoesophageal fistula	ORPHA:3068
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis, Retinopathy	OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hyperspl...	ORPHA:77293
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Dyskeratosis Congenita	Esophageal stenosis, Telangiectasia of the skin, Abnormality of neutrophils, Malabsorption, Throm...	ORPHA:1775
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Retinitis Pigmentosa 89	Retinal thinning, Micronodular cirrhosis, Hepatosplenomegaly, Hyperautofluorescent retinal lesion...	OMIM:618955
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Charge Syndrome	Lymphopenia, Anal stenosis, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum...	OMIM:214800
Acro-Renal-Mandibular Syndrome	Tracheoesophageal fistula, High palate, Aplasia/Hypoplasia of the tongue, Oligohydramnios	ORPHA:958
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Immunodeficiency 76	Splenomegaly, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Recurrent bronchiolitis	OMIM:619164
Capillary Malformation-Arteriovenous Malformation	Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive heart failure, Congestiv...	ORPHA:137667
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Hypertension, Hi...	OMIM:614653
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atrial septal def...	ORPHA:124
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Hydrops fetalis, Hepatocellular carcinoma	ORPHA:88618
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrops fetalis, Cleft palate, Abnormal heart morphology, Single umbilical artery, Increased plac...	ORPHA:1865
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P...	ORPHA:542306
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia	ORPHA:90036
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Septo-Optic Dysplasia Spectrum	Esophageal atresia, Tracheoesophageal fistula, Cleft palate	ORPHA:3157
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis...	ORPHA:288
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Rectal prolapse, G...	ORPHA:904
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Penile Agenesis	Ventricular septal defect, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Tracheoesophagea...	ORPHA:49
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negat...	ORPHA:3261
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarc...	ORPHA:508498
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Halperin-Birk Syndrome	High palate, Pseudobulbar paralysis, Perimembranous ventricular septal defect, Gastroesophageal r...	OMIM:618651
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy, Cerebral edema	OMIM:618321
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe...	ORPHA:79282
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Renal Agenesis, Bilateral	Fetal polyuria, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Oligohydr...	ORPHA:1848
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema	OMIM:152800
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Triosephosphate Isomerase Deficiency	Optic disc pallor, Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithi...	OMIM:615512
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Lethal Congenital Contracture Syndrome 2	Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy	OMIM:607598
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Hereditary Coproporphyria	Tachycardia, Small intestinal dysmotility, Anemia, Hepatocellular carcinoma	ORPHA:79273
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo...	ORPHA:2126
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An...	OMIM:615710
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Abscess, Edema, Myocarditis, Increased circulating myelocyte count, Capillary...	ORPHA:36234
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Stiff-Person Syndrome	Hypertension, Tachycardia, Anemia	OMIM:184850
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ...	ORPHA:3202
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,...	OMIM:614837
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop...	ORPHA:99827
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellularity, Anal at...	OMIM:614083
Vater/Vacterl Association	Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul...	OMIM:192350
Achondrogenesis, Type Ii	Stillbirth, Polyhydramnios, Hydrops fetalis, Edema	OMIM:200610
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus	OMIM:615524
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Macroglossia	OMIM:253220
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Thrombocytopenia, Splenomegaly, Hy...	ORPHA:699
Vacterl With Hydrocephalus	Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Single umbilical artery, Anal atresia	ORPHA:3412
Alg9-Cdg	Thickened nuchal skin fold, Decreased fetal movement, Villous atrophy, Tricuspid regurgitation, V...	ORPHA:79328
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dysmotility, Peda...	ORPHA:330001
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Abnormal placenta morphology	ORPHA:79255
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Hereditary Pulmonary Alveolar Proteinosis	Foam cells, Tachycardia	ORPHA:264675
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Optic neuropathy, Aggressive behavior, Abnormal retinal vascular m...	ORPHA:909
Fibrochondrogenesis 1	Stillbirth, Patent foramen ovale, Hydrops fetalis, Cleft palate	OMIM:228520
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Cystic liver disease, Bile duct proliferation, H...	OMIM:612284
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Charge Syndrome	Aortic arch aneurysm, Polyhydramnios, Abnormal soft palate morphology, Patent ductus arteriosus, ...	ORPHA:138
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites, Anemia	ORPHA:139411
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyop...	OMIM:212065
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Pulmonary insufficiency	ORPHA:277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, ...	OMIM:263520
Necrotizing Enterocolitis	Shock, Premature birth, Edema, Leukocytosis, Abnormal heart morphology, Bradycardia, Hypotension,...	ORPHA:391673
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Hennekam Syndrome	Lymphedema, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis, Hydrops fetalis,...	ORPHA:2136
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, High, narrow palate, Patent ductus a...	OMIM:180849
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Ventricular septal defect	OMIM:620210
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryp...	ORPHA:432
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg...	OMIM:615355
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula...	OMIM:614294
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Treacher-Collins Syndrome	Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Glossoptosis, High palate, Hyp...	ORPHA:861
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Attention...	ORPHA:96092
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Farber Disease	CNS foam cells, Hydrops fetalis, Hepatosplenomegaly, Anemia, Joint swelling, Ascites, Thrombocyto...	ORPHA:333
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Emotional lability, Addi...	ORPHA:512
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastr...	OMIM:619488
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fasting hypogly...	ORPHA:263455
Phocomelia, Schinzel Type	High, narrow palate, Tracheoesophageal fistula, Hydrops fetalis, Cleft palate, Anal atresia	ORPHA:2879
Hypotonia, Infantile, With Psychomotor Retardation	Decreased fetal movement, Ventricular septal defect	OMIM:616816
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Tracheoesophageal fistula, Intestinal malrotation, Anal atresia, Oligohydramnios	ORPHA:2973
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Abnormal repetitive mannerisms...	OMIM:610688
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura...	OMIM:617397
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Torsade de pointes, Hypertrop...	OMIM:616878
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Malabsorption, Thrombocytopenia, Reticulocyt...	OMIM:557000
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Marburg Hemorrhagic Fever	Shock, Lymphopenia, Pericarditis, Reticulocytosis, Tachycardia, Abnormality of the gastrointestin...	ORPHA:99826
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia	OMIM:615935
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A...	OMIM:194072
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Perrault Syndrome 4	Increased circulating gonadotropin level, Osteoporosis, Hypoplasia of the uterus, Bicornuate uter...	OMIM:615300
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Anemia, Intracranial he...	ORPHA:340
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly	OMIM:256540
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Tetanus	Hypertension, Tachycardia, Bradycardia, Dysphagia	ORPHA:3299
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Pyloric stenosis, Ileus, B...	OMIM:613327
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia	OMIM:620184
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hydrops fetalis, Lymphedema	ORPHA:584
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Osteolytic defects of the phalanges of...	OMIM:600705
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Pyloric stenosis, Cleft palate, Perimembranous ventricular septal defec...	ORPHA:83617
Scorpion Envenomation	Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Myocarditis, Congestive ...	ORPHA:466677
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Gaucher Disease	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Portal hypertension, Retinal telangiectasia, Cholecystitis, Cirrhosi...	ORPHA:774
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ...	OMIM:607823
Campomelia, Cumming Type	Lymphedema, Hydrops fetalis, Cleft palate, Abnormal intestine morphology, Oligohydramnios	ORPHA:1318
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Nodular regenerative hyperplasia of liver, Abnormal retinal vascular mo...	ORPHA:247691
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Medial calcification...	ORPHA:51608
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis...	OMIM:301082
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hypoplastic le...	OMIM:220210
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Cardiomyocyte mitochondrial proliferation, Ventricular tach...	ORPHA:423
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia, Attention deficit hyperactivit...	OMIM:617914
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Hydrops fetalis, Polyhydramnios	ORPHA:85166
Immunodeficiency 68	Abscess, Delayed umbilical cord separation, T lymphocytopenia, B lymphocytopenia, Abnormal natura...	OMIM:612260
Neuroleptic Malignant Syndrome	Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Dehydration, Hypertension, Br...	ORPHA:94093
Steinfeld Syndrome	Absent gallbladder, Retinal coloboma, Iris coloboma	OMIM:184705
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus...	OMIM:606003
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Acitretin/Etretinate Embryopathy	Premature birth, Conotruncal defect, Hypoplasia of the thymus, Bradycardia, Third degree atrioven...	ORPHA:40366
Porphyria Variegata	Tachycardia, Ileus, Hypertension, Hepatocellular carcinoma, Anemia	ORPHA:79473
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Optic atrophy, Coloboma, Cholelithiasis, Annular pancreas	ORPHA:97297
Immunodeficiency 57 With Autoinflammation	Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the large intesti...	OMIM:618108
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Aggressive behavior, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Choleli...	OMIM:301066
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Premature birth, Splenomegaly	OMIM:616651
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha...	OMIM:215140
Sirenomelia	Tracheoesophageal fistula, Anal atresia	ORPHA:3169
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Elevated circulating uroporphyrin c...	OMIM:263700
Craniofaciofrontodigital Syndrome	Persistent fetal circulation, Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Decreased skull ossification, Bicornuate uterus	OMIM:263210
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu...	ORPHA:31826
Cranioectodermal Dysplasia 2	Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Cleft palate, Hypertensi...	OMIM:613610
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Medial calcification of large arteries, Villous atrophy, Autoimmune ...	ORPHA:391487
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy...	OMIM:619281
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A...	OMIM:146255
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Syncope, Renal artery stenosis, Anemia	ORPHA:71273
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Polyhydramnios, Retinal arteriola...	ORPHA:567
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Polyhydramnios, Hydrops fetalis, Cleft palate, Atrial septal defect	OMIM:616546
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Hypospadias, Aggressive behavior	ORPHA:464738
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Achondrogenesis, Type Ia	Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Ab...	OMIM:200600
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Elevated circulating creatine kinase concentration, Attention deficit hyperactiv...	ORPHA:565899
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Hypocalcemia, Aplas...	ORPHA:2237
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Immunodeficiency 70	Celiac disease, Colitis, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:618969
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Hydrops fetalis, Cleft palate, High palate, Ascites	OMIM:614091
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Uterus didelphys	ORPHA:1756
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Hydro...	OMIM:300868
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Increased serum bil...	OMIM:618268
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Tyshchenko Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defect	OMIM:615102
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Hepa...	OMIM:607330
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Hypotension, ...	OMIM:615668
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Congenital Rubella Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anemia, Atrial septal defect, ...	ORPHA:290
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ...	OMIM:618223
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Donnai-Barrow Syndrome	Retinal detachment, Bicornuate uterus, Retinal dystrophy, Iris coloboma	OMIM:222448
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, High, narrow palate, Increased nuchal tr...	ORPHA:3472
Immunodeficiency, Common Variable, 1	Splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Decreased pro...	OMIM:607594
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone...	ORPHA:99429
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-...	ORPHA:2298
Schneckenbecken Dysplasia	Cleft palate, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:269250
Graft Versus Host Disease	Tachycardia, Gastrointestinal inflammation, Hepatosplenomegaly, Hemophagocytosis, Recurrent gastr...	ORPHA:39812
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Trachea...	OMIM:617667
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Gastr...	OMIM:107480
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Single umbilical artery, Ventricular septal defect, Premature birth, Polyhydramnios	ORPHA:2256
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis	ORPHA:363400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect	OMIM:602501
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci...	OMIM:137940
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen...	OMIM:619657
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Reduced bone mineral density, Sex reversal, Increased circulating renin level, Ambiguous genitali...	ORPHA:168558
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Pate...	OMIM:612562
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Abnormal retinal morphology, Ambiguous...	ORPHA:96176
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo...	ORPHA:508488
Cholera	Tachycardia, Premature birth, Achlorhydria, Dehydration, Hypovolemic shock, Hypotension	ORPHA:173
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Coronary artery stenosis, Myocardial infarction	OMIM:615812
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Reduced bone mineral density, Sex reversal, Increased circulating renin level, Ambiguous genitali...	ORPHA:289548
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Left ventricula...	ORPHA:31150
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Premature birth, Esophageal stricture, Pancolitis, Inflammation of the large intest...	OMIM:620133
Kagami-Ogata Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Splenomegaly, Patent ductus arteriosu...	OMIM:608149
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Recurrent bronchitis, Abnormal T cell morphology	OMIM:612692
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Increased circulating gonadotropin level, Reduced bone mineral density,...	ORPHA:243
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Decreased calvarial ossification, Micropenis	OMIM:617925
Porphyria, Acute Intermittent	Paralytic ileus, Hypertension, Tachycardia, Hepatocellular carcinoma	OMIM:176000
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fib...	OMIM:246200
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	ORPHA:79303
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Cleft palate	OMIM:618265
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Depression, Cholecystitis, Neoplasm of the gallbladder, Emotional lability	ORPHA:309271
Amed Syndrome, Digenic	Hypoplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:619151
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Azoospermia, Hepatic fi...	ORPHA:2072
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno...	ORPHA:3376
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ...	ORPHA:93111
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Activated Pi3K-Delta Syndrome	Splenomegaly, Bronchiectasis, B lymphocytopenia, Abnormal intestine morphology, Intestinal lympho...	ORPHA:397596
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Hypergonadotropic hypogonadism, Decreased r...	ORPHA:273
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Omodysplasia 2	Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis	OMIM:164745
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ...	OMIM:306955
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su...	ORPHA:280365
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Periorbital edema, B lymphocytopenia, Decreased proportion of memory B c...	OMIM:618048
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism	ORPHA:79319
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent...	OMIM:605275
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Single umbilical artery, Ventricular septal defect	OMIM:617635
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, M...	OMIM:618329
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly	ORPHA:79237
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte...	OMIM:270100
Pancreatic Agenesis-Holoprosencephaly Syndrome	Reduced C-peptide level, Pancreatic aplasia, Hypoamylasemia, Absent gallbladder	ORPHA:556955
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure...	ORPHA:508542
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Cleft palate, Anteri...	OMIM:309801
Blomstrand Lethal Chondrodysplasia	Premature birth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Coarctation of aorta	ORPHA:50945
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Single umbilical artery, Patent...	OMIM:618027
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Ventricular septal defect, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Plague	Tachycardia, Edema, Hematemesis, Splenomegaly, Enterocolitis, Endocarditis, Inflammation of the l...	ORPHA:707
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Asci...	ORPHA:1655
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Teebi Hypertelorism Syndrome 1	Sagittal craniosynostosis, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Coronal craniosyno...	OMIM:145420
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Lujo Hemorrhagic Fever	Shock, Facial edema, Myocarditis, Leukocytosis, Periorbital edema, Odynophagia, Cerebral edema, S...	ORPHA:319213
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Anal canal squamous carcinoma	ORPHA:217390
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline...	ORPHA:528
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios...	OMIM:616564
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Gaisböck Syndrome	Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increased mean corpuscular he...	ORPHA:90041
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Denys-Drash Syndrome	True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro...	OMIM:194080
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa...	OMIM:618494
Pentalogy Of Cantrell	Absent gallbladder, Hypospadias, Polysplenia	ORPHA:1335
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, F...	OMIM:615879
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Patent ductus ...	OMIM:618870
Hyperthyroidism, Nonautoimmune	Tachycardia, Premature birth	OMIM:609152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Patent foramen ova...	OMIM:208085
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Congenital Myopathy 22B, Severe Fetal	Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, High pa...	OMIM:620369
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Elevated circulating creatinine concentration, Biliar...	OMIM:137920
Alg3-Cdg	Neural tube defect, Cardiomyopathy	ORPHA:79321
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Single umbilical artery, Abnormal tr...	ORPHA:7
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis	ORPHA:163979
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Sple...	OMIM:232300
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Leukopenia, Pulmon...	OMIM:301056
Craniofacioskeletal Syndrome	Cryptorchidism, Hypospadias, Hypocalcemia, Absent gallbladder	OMIM:300712
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Echogenic intracardiac focus, Ventricular septal defect, Bicuspid aorti...	OMIM:617751
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia, Gastroesophageal reflux	OMIM:223900
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Single umbilical arte...	ORPHA:329224
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1166
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Trisomy 8P	Cryptorchidism, Micropenis, Annular pancreas, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Peau d'orange, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, A...	OMIM:614576
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Polyhydramnios, Patent ductus arteri...	OMIM:609942
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Delayed ossification of carpal bones, Dela...	OMIM:140000
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta, High palate	ORPHA:1772
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Persistence of hemoglobin F, Ventricular septal d...	OMIM:619769
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi...	ORPHA:79086
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Increased stoo...	ORPHA:79277
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph...	OMIM:301078
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia	OMIM:191830
Acute Intermittent Porphyria	Tachycardia, Ileus, Hypertension, Pseudobulbar paralysis, Hepatocellular carcinoma	ORPHA:79276
Niemann-Pick Disease Type C	Fetal ascites, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Dysphag...	ORPHA:646
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Tachycardia, Gastroesophageal reflux	ORPHA:1764
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Coronary artery atherosclerosis, Ventr...	ORPHA:36913
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pul...	ORPHA:3071
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Craniosynostosis, Cryptorchidism, Bi...	OMIM:261540
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Patent ductus ...	OMIM:620005
Trisomy 10P	Absent gallbladder, Rectovaginal fistula, Dysphagia	ORPHA:171929
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, High palate, Hydrops fetalis, Cleft palate	OMIM:265000
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
King-Denborough Syndrome	Decreased fetal movement, Ventricular septal defect, Breech presentation	OMIM:619542
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Premature birth, Fetal pericardial effusion	OMIM:219730
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl...	ORPHA:98863
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypop...	OMIM:618419
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O...	ORPHA:2970
Tetrasomy 9P	Absent gallbladder, Hyperactivity, Abnormal chorioretinal morphology, Cryptorchidism, Jaundice, B...	ORPHA:3310
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Mandibuloacral Dysplasia	Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus	ORPHA:2457
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteoporosis, Bili...	ORPHA:186
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Digeorge Syndrome	Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,...	OMIM:188400
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Retinal dystrophy, Bicornuate uterus, Labial hypoplasia, Macular dystrophy, Clitoral hypertrophy	ORPHA:140952
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Immunodeficiency 43	Bronchiectasis, Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent...	OMIM:609053
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis...	OMIM:270400
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Cardiofacioneurodevelopmental Syndrome	Asplenia, Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Ehlers-Danlos Syndrome, Classic-Like	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Down Syndrome	Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri...	OMIM:190685
Myopathy With Extrapyramidal Signs	Splenomegaly, Leukocytosis, Ventricular septal defect	OMIM:615673
Microsporidiosis	Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonit...	ORPHA:2552
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea...	OMIM:203800
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly	OMIM:301081
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Edema, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, G...	ORPHA:254892
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Chronic neutropenia, Villous atrop...	OMIM:614700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Zttk Syndrome	Absent gallbladder, Optic atrophy, Craniosynostosis	OMIM:617140
Hepatoerythropoietic Porphyria	Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic flu...	ORPHA:95159
Pseudotrisomy 13 Syndrome	Cryptorchidism, Cyclopia, Bicornuate uterus, Micropenis	OMIM:264480
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Cyclopia, Iris coloboma	ORPHA:3186
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:301039
Woods Syndrome	Ventricular septal defect	OMIM:615236
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:603387
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh...	ORPHA:254346
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Abnormal cardiac ventricular functio...	ORPHA:797
Genitopalatocardiac Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali...	ORPHA:2075
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Craniosynostosis, Bifid uterus	ORPHA:1521
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Ventricular septal defect	ORPHA:276432
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ...	OMIM:151660
Diabetic Embryopathy	Single umbilical artery, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:1926
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Low APGAR score	ORPHA:79243
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Ventricular septal defect	OMIM:615630
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone ...	ORPHA:3464
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Hypospadias, Hypoplastic labia minora, Splenopanc...	OMIM:269150
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Increased me...	ORPHA:84064
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect	OMIM:610832
Joubert Syndrome 18	Ventricular septal defect	OMIM:614815
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mitral valve pro...	OMIM:602782
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral...	OMIM:612582
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati...	OMIM:609441
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit...	ORPHA:731
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Elevated hepatic transaminase, Small scrotum, Portal hypertension, Rickets, Cholestas...	OMIM:613658
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de...	OMIM:220500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Lymphedema, Splenomegaly, ...	OMIM:235255
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia...	ORPHA:2255
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test	OMIM:615866
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi...	OMIM:613309
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Pagod Syndrome	Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital...	ORPHA:991
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus...	OMIM:618820
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Cor pulmonale, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Ne...	OMIM:300755
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Septate vagina, Craniosynostosis, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Cli...	OMIM:300707
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Meckel Syndrome 14	Ambiguous genitalia, Decreased calvarial ossification, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu...	OMIM:601808
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Ventricular septal defect, Patent ductus arteriosus, Doubl...	ORPHA:163956
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th...	ORPHA:2470
3P25.3 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul...	ORPHA:261250
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Mitral stenosis, Oligohydram...	ORPHA:96201
Seckel Syndrome 9	Atrial septal defect, Decreased fetal movement, Ventricular septal defect, Polyhydramnios	OMIM:616777
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Scalp-Ear-Nipple Syndrome	Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca...	OMIM:181270
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Congenital hypertrophy ...	ORPHA:733
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis,...	ORPHA:100086
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Yunis-Varon Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Pyloric stenosis, Hydrops fetalis, He...	OMIM:216340
Transketolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:488618
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Increased mean platelet volume, Polyhydramnios, ...	OMIM:222470
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia...	OMIM:614527
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchi...	ORPHA:2232
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Optic nerve hypoplasia, Sagittal craniosynostosis, Optic atrophy, Dysphagia	ORPHA:500150
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Autoimmune thrombocytopenia, Bronchiectasis, Hypotension, Abnormal lymp...	ORPHA:293978
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Splenomegaly, Cholestasis...	OMIM:261515
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Premature birth, Congenital hyp...	OMIM:105650
Williams-Beuren Syndrome	Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Celia...	OMIM:194050
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Fryns Syndrome	Cryptorchidism, Bicornuate uterus, Hypospadias	ORPHA:2059
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi...	OMIM:608594
Heart And Brain Malformation Syndrome	Ventricular septal defect, Polyhydramnios	OMIM:616920
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Hypospadias, Craniosynostosis, Aggressive behavior, Cryptorchidism,...	ORPHA:96121
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Legius Syndrome	Acute monocytic leukemia, Paroxysmal atrial tachycardia, Desmoid tumors, Mitral valve prolapse, P...	ORPHA:137605
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Attention deficit hyperactivity dis...	OMIM:620185
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227645
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Heart murmur	ORPHA:166035
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Radio-Tartaglia Syndrome	Ventricular septal defect, Fetal distress	OMIM:619312
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple	OMIM:200980
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Polyhydramnios, Hypoplasia of the thymus,...	ORPHA:436252
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Oligohydramnios	OMIM:620113
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Polyhydramnios, Edema, Splenomegaly, Patent ductus arteriosus, Neonata...	OMIM:269860
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ...	OMIM:619991
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:617360
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Spleno...	OMIM:614866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Gastroesophageal reflux, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level	OMIM:110100
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:616449
Sotos Syndrome	Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Patent d...	OMIM:117550
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Cohen Syndrome	Neutropenia, Decreased fetal movement, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig...	OMIM:617506
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Craniosynostosis, Cr...	OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre...	ORPHA:90794
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,...	OMIM:263650
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Insulin...	OMIM:269700
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n...	ORPHA:637
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital pulmonary airway malformation, Oligohydramnios	OMIM:611812
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Alagille Syndrome	Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect	ORPHA:52
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ...	OMIM:248370
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Marshall-Smith Syndrome	Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Premature ventricular cont...	OMIM:602535
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Kleefstra Syndrome	Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Ventricular septal defect, Premature birth, Polyhydramnios	OMIM:300998
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Zellweger Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Premature birth	ORPHA:912
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Premature birth, Abnormality of prenatal development or birth, Ventous...	OMIM:619229
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Anal stenosis, Recurrent bronchitis, Br...	OMIM:251260
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis	OMIM:614114
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic cardiomyopathy, An...	ORPHA:506
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl...	OMIM:229850
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Mosaic Trisomy 16	Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he...	ORPHA:1708
Mosaic Trisomy 1	Increased nuchal translucency, Single umbilical artery, Ventricular septal defect, Polyhydramnios	ORPHA:1692
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610443
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Splenomegaly, ...	OMIM:619381
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal...	OMIM:607721
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Edema of the dorsum of hand...	OMIM:274000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Portal hypertension, Impulsivity, Fetal as...	OMIM:619503
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor...	OMIM:300166
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal...	ORPHA:79345
Trichothiodystrophy	Ventricular septal defect, Abnormality of prenatal development or birth, Increased mean corpuscul...	ORPHA:33364
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:605039
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prolapse	OMIM:617107
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Esophageal atresia, Hydrops fetalis, Ectopic anus, Bifid tongue, Anal atresia	ORPHA:93271
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Bronchiectasis, Neutropenia	OMIM:601495
Wolf-Hirschhorn Syndrome	Hypospadias, Cryptorchidism, Abnormality of the gallbladder, Optic atrophy, Osteoporosis, Abdomin...	ORPHA:280
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353281
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the gallbladder, Optic atrophy, ...	ORPHA:818
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Kapur-Toriello Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, ...	OMIM:130050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Aortic...	ORPHA:464311
Phaver Syndrome	Ventricular septal defect	ORPHA:2876
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Abn...	OMIM:194190
Currarino Syndrome	Bicornuate uterus, Rectovaginal fistula, Septate vagina	OMIM:176450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic...	OMIM:181450
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300963
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Abnormal placenta...	ORPHA:96191
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Abnormality of the uterus	ORPHA:3138
Leprechaunism	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, I...	ORPHA:508
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati...	OMIM:608328
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:488632
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen...	ORPHA:2052
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Decreased serum iron, Precocious puberty, Cryptorchidism, Abnormal...	ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect	OMIM:309520
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Ventricular septal defect, Premature birth, Splenomegaly, Polysplenia, Anemia	OMIM:619418
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Ly...	OMIM:163950
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology	OMIM:236680
Recombinant 8 Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:96167
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Limb-Mammary Syndrome	Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u...	ORPHA:69085
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri...	OMIM:616894
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Mitral regurgitation	OMIM:615582
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Bone cyst, Adenoma...	ORPHA:201
Fraser Syndrome 1	Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy	OMIM:219000
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Craniosynostosis, Cryptorchidism, Long peni...	OMIM:268300
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:617602
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, Ventricular septal defect, Polyhydramnios, Aortopulmonary window	OMIM:620025
Jacobsen Syndrome	Ventricular septal defect, Premature birth, Hypoplastic left heart, Bone marrow hypocellularity, ...	ORPHA:2308
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri...	ORPHA:3474
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,...	ORPHA:464306
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Neu-Laxova Syndrome 1	Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Pat...	OMIM:256520
Okamoto Syndrome	Splenomegaly, Bifid uterus	ORPHA:2729
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Optic atrophy, Hypoplasia of the uterus, Clitoral hypoplasia, Anteri...	ORPHA:709
De Barsy Syndrome	Premature rupture of membranes, Patent ductus arteriosus, Ventricular septal defect, Decreased fe...	ORPHA:2962
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect	ORPHA:2710
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Peroxisome Biogenesis Disorder 1A (Zellweger)	Breech presentation, Patent ductus arteriosus, Ventricular septal defect	OMIM:214100
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Patent fora...	OMIM:618454
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the spleen, Arrhyt...	ORPHA:2162
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Polyhydramnios, Splenomega...	ORPHA:373
Costello Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Mitral valve prolapse, Pulmonic steno...	OMIM:218040
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect, Caesarian section	OMIM:619575
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Loeys-Dietz Syndrome	Craniosynostosis, Uterine rupture	ORPHA:60030
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Focal Dermal Hypoplasia	Telangiectasia of the skin, Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventric...	ORPHA:2092
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus	OMIM:154400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Atypical Werner Syndrome	Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan...	ORPHA:79474
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Oligoh...	OMIM:300373
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Trisomy 18	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:3380
Cardiospondylocarpofacial Syndrome	Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Dysplast...	OMIM:157800
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio...	OMIM:157170
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect, Thrombocytopenia	OMIM:147791
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Lacrimal gland ...	ORPHA:2363
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Palpebral edema, Ventricular septal defect, Patent ductus arteriosus, Tr...	ORPHA:261337
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Limb Body Wall Complex	Ventricular septal defect, Amniotic constriction ring, Abnormal heart morphology, Single umbilica...	ORPHA:2369
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:352665
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Fetal pyelectasis,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Fetal pyelectasis,...	ORPHA:363958
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Splenomegaly, Patent ductus arteriosus, Aortic valve ...	ORPHA:955
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Hypertension, Atrial s...	OMIM:139210
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Acute lymphoblastic leukemia, Transposition of the great arteries, Sub...	OMIM:280000
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec...	OMIM:257920
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Attention defici...	OMIM:619539
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Osteolysis, Hypokalemia, Uterine rupture, Uterine prolapse	ORPHA:286
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect	OMIM:146510
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:607323
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi...	ORPHA:857
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Atriov...	ORPHA:3047
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Diets-Jongmans Syndrome	Breech presentation, Ventricular septal defect, Polyhydramnios	OMIM:618846
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Breech presentation, Muscular ventricular septal defect, Hypertension,...	OMIM:210710
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:93924
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormal heart morphology	ORPHA:220386
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
Cornelia De Lange Syndrome 1	Ventricular septal defect, Thrombocytopenia	OMIM:122470
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo...	ORPHA:1507
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Nuchal cord, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed...	OMIM:619475
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper eyelid ...	OMIM:616268
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation	OMIM:271640
Coffin-Siris Syndrome 1	Hypospadias, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Aplasia of the uterus, Cl...	OMIM:135900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353277
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Decreased calvarial ossification, Anteriorly displace...	OMIM:276820
Schinzel-Giedion Syndrome	Neural tube defect, Umbilical hernia, Abnormal heart morphology	ORPHA:798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Premature birth, Polyhydramnios, Large placenta, Hepatosplenomegaly, A...	ORPHA:96334
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy...	OMIM:312870
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Polyhydramnios, Paten...	OMIM:619472
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Polyhydramnios	OMIM:117650
Pallister-Hall Syndrome	Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi...	ORPHA:672
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Cornelia De Lange Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut...	ORPHA:199
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect, Polyhydram...	ORPHA:459070
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Classical Ehlers-Danlos Syndrome	Osteopenia, Uterine prolapse, Cervical insufficiency	ORPHA:287
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse, Left ventricular hypertrophy, Osteoporosis, Craniosynostosis	ORPHA:284984
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegaly, Dilated car...	OMIM:243800
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:118450
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Kabuki Syndrome 1	Atrial septal defect, Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia	OMIM:147920
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Mowat-Wilson Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Pulmonic stenosis...	OMIM:235730
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Coffin-Lowry Syndrome	Uterine prolapse	OMIM:303600
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Abnormal heart morphology, Acut...	ORPHA:821
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Loeys-Dietz Syndrome 3	Uterine prolapse, Cystocele, Left ventricular hypertrophy, Craniosynostosis	OMIM:613795
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:606170
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas...	OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Asplenia, ...	ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318
Craniofacial Microsomia 1	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sox4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sox4.

No publications found that use IMPC mice or data for Sox4.

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MGI Allele	Allele Type	Produced
Sox4^{tm456048(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sox4^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sox4 MGI:98366

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E9.5

X-ray

X-ray

Human diseases caused by Sox4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data