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Gene: Gbe1 MGI:1921435

Gene Summary

Name:

1,4-alpha-glucan branching enzyme 1

Synonyms:

D16Ertd536e, 2810426P10Rik, 2310045H19Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating creatinine level		Gbe1^{tm1a(KOMP)Wtsi}	HET		Early adult	5.66×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Ambiguous
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

16 Images

View images

Legacy Phenotype Associated Images

Gbe1^{tm1a(KOMP)Wtsi}
body, HET, Male, WTSI

Gbe1^{tm1a(KOMP)Wtsi}
head, HET, Male, WTSI

Gbe1^{tm1a(KOMP)Wtsi}
body, HET, Male, WTSI

Gbe1^{tm1a(KOMP)Wtsi}
head, HET, Male, WTSI

View all 19 images

Gbe1^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Gbe1^{tm1a(KOMP)Wtsi}
eye, abnormal pupil morphology, abnormal placement of pupils, HET, Male, WTSI

Human diseases caused by Gbe1 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 Gbe1 (3 diseases)
Human diseases predicted to be associated with Gbe1 (1085 diseases)

The table below shows human diseases associated to Gbe1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen...	OMIM:232500
Adult Polyglucosan Body Disease	Ataxia, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Spast...	ORPHA:206583
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Tetraparesis	OMIM:263570

The table below shows human diseases predicted to be associated to Gbe1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Skeletal muscle atrophy, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb atax...	OMIM:616719
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hypotonia, Portal fibr...	ORPHA:369
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:619048
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Generalized limb muscle atrophy, Gait ataxia, Hepatosplenomegaly, Progress...	ORPHA:466794
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia, Hepatomegaly	OMIM:609016
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Calf musc...	ORPHA:280356
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo...	OMIM:618815
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Bronchitis, Cardiomegaly, Pneumon...	OMIM:601005
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m...	OMIM:620265
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres...	OMIM:212138
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic car...	OMIM:614702
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas...	ORPHA:681
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i...	ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:617093
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic...	OMIM:615630
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia	ORPHA:366
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am...	OMIM:253300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva...	ORPHA:79240
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H...	ORPHA:79319
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly	OMIM:619858
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp...	OMIM:615779
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus	ORPHA:2377
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypotonia, Hepatic fibrosis, Hypoalbuminemia, Generalized hypotonia, Hyperinsulinem...	OMIM:602579
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Paralysis	OMIM:608634
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f...	OMIM:607641
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating crea...	OMIM:201475
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypotonia, Cholestasis, Hepatosplenomegaly, Dec...	ORPHA:541423
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep...	OMIM:300559
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:232700
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog...	ORPHA:264580
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cardiomyopathy,...	OMIM:606069
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios	OMIM:615731
Butyrylcholinesterase Deficiency	Abnormality of the liver, Paralysis	ORPHA:132
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Bradycardia, Hy...	ORPHA:70587
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
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi...	OMIM:278000
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Paralysis, Hypotonia, Knee flexion contracture, Facial diplegia, Distal ...	OMIM:616286
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Necrotizing Enterocolitis	Shock, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Abnormal glucose ...	ORPHA:391673
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis	OMIM:176090
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Ataxia, Portal hypertension, Hepatic fibrosis, Dystonia, Spasticity	OMIM:617341
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:79322
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, A...	OMIM:609286
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Familial Cervical Artery Dissection	Diabetes mellitus, Abnormal circulating lipid concentration, Facial palsy, Paralysis	ORPHA:36382
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli...	ORPHA:263297
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Donohue Syndrome	Skeletal muscle atrophy, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell h...	OMIM:246200
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Axial hypotonia, Spastic tetrapa...	OMIM:619487
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Idiopathic Congenital Hypothyroidism	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:95717
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Hypotonia...	OMIM:216360
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu...	ORPHA:2041
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole...	OMIM:618775
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis	OMIM:613710
Senior-Loken Syndrome	Congenital hepatic fibrosis, Ataxia	ORPHA:3156
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl...	OMIM:261750
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Propionic Acidemia	Cardiomyopathy, Hypoglycemia, Hepatomegaly	ORPHA:35
Porphyria, Acute Hepatic	Respiratory paralysis, Hypotonia, Paralysis	OMIM:612740
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Wolfram-Like Syndrome	Glucose intolerance, Diabetes mellitus	ORPHA:411590
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis	OMIM:605285
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func...	OMIM:616299
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Joubert Syndrome 9	Oculomotor apraxia, Hepatic fibrosis	OMIM:612285
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Flexion contracture, Bradycardia, Camptodactyly, Neonatal death	OMIM:610015
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contracture of the...	OMIM:614407
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, P...	ORPHA:276580
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s...	OMIM:620351
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo...	ORPHA:57777
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Cong...	ORPHA:49827
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Lef...	ORPHA:75249
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Glucose intolerance, Splenomegaly	ORPHA:75563
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hy...	OMIM:615524
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, Fastin...	ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Ataxia, Pancreatic fibrosis, Achilles tendon contracture, Hypoto...	OMIM:616263
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Hypertriglyceridemia 1	Glucose intolerance	OMIM:145750
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Hypotonia, Facial diplegia, Distal amyotrophy, Distal ...	OMIM:616287
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paralysis	ORPHA:90064
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen...	OMIM:232500
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Dominant Beta-Thalassemia	Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Spleno...	ORPHA:231226
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Familial Thyroid Dyshormonogenesis	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:95716
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirrhosis,...	ORPHA:101028
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hypoglycemia, Decreased liver function	ORPHA:67048
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:614432
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Ataxia, Cholangit...	OMIM:124000
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrophy, Neoplasm of the...	ORPHA:171
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Hypokalemia, Periodic paralysis	OMIM:613345
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures	OMIM:620211
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Bab...	ORPHA:14
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Gluco...	OMIM:235200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Hypertrophic ...	ORPHA:156
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Joubert Syndrome 6	Ataxia, Hypotonia, Hepatic fibrosis, Bile duct proliferation, Oculomotor apraxia	OMIM:610688
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Scimitar Syndrome	Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ...	ORPHA:185
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersp...	ORPHA:231214
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Triceps weakness, Quadriceps...	ORPHA:99947
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Bradycardia, Limb hypertonia	OMIM:614498
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ...	OMIM:601927
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Combined Oxidative Phosphorylation Deficiency 36	Lower limb muscle weakness, Elevated circulating alanine aminotransferase concentration, Hypoglyc...	OMIM:617950
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas...	OMIM:606003
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja...	ORPHA:333
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Facial edema, Myocarditis, Fulminant hepatitis, Periorbital...	ORPHA:319213
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial sept...	OMIM:249270
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Flexion contracture, Hypotonia, Dysm...	OMIM:212065
Variegate Porphyria	Paralysis	OMIM:176200
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic steno...	OMIM:615355
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr...	OMIM:619484
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis, Dystonia	OMIM:300857
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:226313
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis	ORPHA:1296
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenos...	ORPHA:139466
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract...	OMIM:613870
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy	OMIM:616483
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
Bardet-Biedl Syndrome 1	Diabetes mellitus, Ataxia, Insulin resistance, Poor coordination, Biliary tract abnormality, Hepa...	OMIM:209900
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia, Hypotonia, Periodic paralysis	OMIM:170400
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabe...	ORPHA:1578
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy	OMIM:610006
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly	OMIM:306000
Senior-Loken Syndrome 9	Hepatic fibrosis, Cholestasis	OMIM:616629
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Nephronophthisis 16	Periportal fibrosis, Cholestasis	OMIM:615382
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia	OMIM:610768
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Hepatic fibrosis, Generalized hypotonia, Cirrhosis, Neonatal hypotonia	OMIM:601539
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
Hyperkalemic Periodic Paralysis	Hyponatremia, Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Elevated ...	ORPHA:682
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Weill-Marchesani Syndrome	Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis	ORPHA:3449
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa...	ORPHA:1454
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Absence Of The Pulmonary Artery	Cardiomegaly, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bronchiectas...	ORPHA:980
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Atrial ...	OMIM:615996
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ...	OMIM:212093
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios	ORPHA:3405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Involuntary movements, Elevated ci...	OMIM:615273
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect	OMIM:616898
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Type I diabetes mellitus, Atrial...	ORPHA:290
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Hand muscle weakness	OMIM:162500
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy	OMIM:619272
Aortic Valve Disease 1	Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou...	OMIM:109730
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr...	OMIM:617021
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Abnormal muscle fiber morpho...	ORPHA:79102
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Hypoglycemia...	OMIM:614921
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Congenital d...	ORPHA:1166
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In...	OMIM:619377
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Bradycardia, Hypotension, Decreased liv...	ORPHA:90051
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Pulmonary sequestration	OMIM:618330
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly, Ventricular septal defect	OMIM:613730
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance	OMIM:309620
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa...	ORPHA:99827
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype...	ORPHA:94093
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Joubert Syndrome 1	Hemifacial spasm, Ataxia, Hypotonia, Macroglossia, Hepatic fibrosis, Generalized hypotonia, Oculo...	OMIM:213300
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Bradycardia, Congenital foot contractures, Limb hypertonia	ORPHA:565624
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva...	OMIM:617253
Mednik Syndrome	Hypotonia, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty ...	OMIM:609313
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Bradycardia, Edema, Prolonged neonatal jaundice	ORPHA:90673
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Impaired glucose tolerance, Facial palsy, Glucose intolerance, Abn...	OMIM:610131
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness	OMIM:612300
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi...	OMIM:276700
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Snakebite Envenomation	Hyponatremia, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respirato...	ORPHA:449285
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Vocal cord paralysis, Hypotonia, Increased variability in m...	OMIM:620161
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Hypertonia	ORPHA:2031
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Hepatomegaly, Ventricular septal defect, Recurrent respiratory infections	OMIM:620210
Trichohepatoenteric Syndrome 1	Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i...	OMIM:222470
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomeg...	OMIM:616651
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hepatic fibrosis	ORPHA:110
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ...	OMIM:608978
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Hemiparesis, Hypertonia, Cirrhosis	ORPHA:974
Bohring-Opitz Syndrome	Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac...	ORPHA:97297
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Hypopl...	OMIM:601186
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276241
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Flexion c...	OMIM:608149
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
D-Glyceric Aciduria	Hypoglycemia, Bradycardia	OMIM:220120
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula...	ORPHA:98853
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Joint contracture of the hand, Pulmonic stenosis, Camptodactyly, Atria...	OMIM:179613
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit...	ORPHA:731
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau...	OMIM:613404
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Macroglossia, Hypotension, Atrial septa...	OMIM:615668
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,...	ORPHA:43
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Dilated cardiomyop...	OMIM:611126
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:619189
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ...	OMIM:612561
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios	ORPHA:2256
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Combined Oxidative Phosphorylation Deficiency 39	Recurrent respiratory infections, Flexion contracture, Sinus bradycardia, Congenital contracture,...	OMIM:618397
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:617049
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear...	ORPHA:99050
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Aplasia of the abdominal wall muscul...	ORPHA:2970
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Cardiomegaly	OMIM:618838
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276244
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va...	OMIM:618316
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, Limb ataxia, Hepatospleno...	ORPHA:2072
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
Japanese Encephalitis	Hyponatremia, Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial pal...	ORPHA:79139
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, Abnorma...	ORPHA:500159
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Joubert Syndrome 18	Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly	OMIM:614815
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:90674
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ataxia, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Hypotonia, Chol...	OMIM:266920
Arima Syndrome	Hepatomegaly, Ataxia, Hypotonia, Hepatic fibrosis, Generalized hypotonia, Cirrhosis, Hepatic stea...	OMIM:243910
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect, Bronchiectasis	OMIM:620184
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Rhabdomyolysis, Periodic paralysis	OMIM:188580
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Marburg Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Hypoglycemia, Pancreatitis, Jaun...	ORPHA:99826
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Pseudohypoaldosteronism Type 2	Hyperkalemia, Periodic paralysis	ORPHA:757
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:1926
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc...	OMIM:617478
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ...	OMIM:611812
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C...	OMIM:600001
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, Neonatal hypotonia, EMG: myopathic abnormalities, Periodic hypokalemic...	ORPHA:684
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Pulmonary artery atresia, Situ...	OMIM:619702
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,...	OMIM:616564
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Paralysis, Microvesic...	OMIM:203700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Emanuel Syndrome	Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con...	OMIM:609029
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo...	OMIM:617022
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega...	OMIM:614576
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Congenital diaphragmatic hernia, Bradycardia, Pulmonary artery aneur...	OMIM:614437
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Ogden Syndrome	Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia	ORPHA:276432
Syndromic Diarrhea	Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo...	ORPHA:84064
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio...	OMIM:603387
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,...	ORPHA:3427
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen...	OMIM:618870
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d...	OMIM:270100
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia	OMIM:200995
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Spasticity, Paralysis	ORPHA:803
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa...	OMIM:618494
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Congenital diaphragm...	OMIM:616777
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormal ...	OMIM:301056
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit...	OMIM:121050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell...	ORPHA:2255
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis	OMIM:613989
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:145260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lym...	OMIM:235255
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Asplenia, Partial anomalous pulmonary venous return, Ano...	OMIM:619657
3C Syndrome	Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Te...	ORPHA:7
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ...	ORPHA:354
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly	OMIM:301039
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Hypoglycemia, Bradycardia	ORPHA:91355
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis...	ORPHA:3071
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Edema, Dilated cardiomyopathy, Pneumothorax, Dehydration, Bradycardia	ORPHA:79404
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Type I diabetes mellitus, Atr...	ORPHA:488618
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Perimem...	OMIM:600987
Woods Syndrome	Ventricular septal defect	OMIM:615236
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati...	OMIM:619534
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Hypoplastic right heart	OMIM:618142
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di...	ORPHA:477817
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased muscle mass, Vocal cord paralysis, Hypotonia, Intrinsic hand muscle atrophy, Knee flexi...	OMIM:615490
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ...	OMIM:619123
Alg9-Cdg	Lower limb spasticity, Torticollis, Hepatomegaly, Hypoplasia of the musculature, Hypotonia, Perip...	ORPHA:79328
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal...	ORPHA:2912
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios	ORPHA:1923
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo...	OMIM:610978
Porphyria, Acute Intermittent	Hepatocellular carcinoma, Respiratory paralysis, Paralysis	OMIM:176000
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Suleiman-El-Hattab Syndrome	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen...	OMIM:618950
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep...	OMIM:620005
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic f...	OMIM:218330
Mandibuloacral Dysplasia	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, C...	ORPHA:2457
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f...	OMIM:602782
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Recurrent pneumonia, Bicuspid aortic valve	OMIM:617751
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Flexion contracture, Hyperglycemi...	OMIM:609069
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Calf muscle...	OMIM:615673
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect, Recurrent aspiration pneumonia	ORPHA:79243
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Hypertension, R...	ORPHA:52
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Diabetes mellitus, Facial palsy, Quadriceps muscle weakness, Dilat...	ORPHA:254892
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:881
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Scorpion Envenomation	Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe...	ORPHA:466677
Glioblastoma	Paralysis	ORPHA:360
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:226307
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio...	OMIM:605275
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Trisomy 13	Atrial septal defect, Abnormal lung lobation, Ventricular septal defect, Hydrops fetalis	ORPHA:3378
Emanuel Syndrome	Recurrent respiratory infections, Multiple joint contractures, Ventricular septal defect, Truncus...	ORPHA:96170
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Paralysis, Insulin resistance, Rhabdomyolysis, Hyper...	ORPHA:358
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Glucose intolerance, ...	OMIM:608612
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Hypoglycemia...	OMIM:619418
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Hypoton...	OMIM:211530
Renal Agenesis	Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Oligohydramnios	ORPHA:411709
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Recurrent upper respiratory tract infections, Ventricular septal defect, Re...	OMIM:619769
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Jaundice, Bradycardia, Neonatal hypoglycemia	OMIM:617248
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:243800
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Hematochezia, Congen...	OMIM:243150
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia	OMIM:619909
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasi...	ORPHA:1655
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ...	OMIM:610338
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Yellow Fever	Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave...	ORPHA:99829
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Recurrent upper respiratory tract infections, Ventricular septa...	ORPHA:3078
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Renal Tubular Acidosis Iii	Hypokalemia, Periodic paralysis	OMIM:267200
Tick-Borne Encephalitis	Speech apraxia, Elevated hepatic transaminase, Skeletal muscle atrophy, Incoordination, Facial pa...	ORPHA:297
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia	OMIM:616920
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Pituitary Adenoma 4, Acth-Secreting	Glucose intolerance, Impaired glucose tolerance, Skeletal muscle atrophy	OMIM:219090
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonar...	OMIM:620025
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia, Polyhydramnios	OMIM:615503
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn...	ORPHA:95430
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Rift Valley Fever	Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesis, Decerebr...	ORPHA:319251
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Atelectasis, Peripo...	OMIM:269860
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Paralysis	ORPHA:83601
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glucose intolerance, Cirrhosis, Glycosuria, Hypertrophic cardiomyopathy, Exocrine pancreatic insu...	OMIM:616539
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Glucose intolerance, Prolonged neo...	OMIM:117550
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, ...	ORPHA:457279
Codas Syndrome	Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:1692
Cat Eye Syndrome	Ventricular septal defect, Biliary atresia, Hypoplastic left heart, Total anomalous pulmonary ven...	OMIM:115470
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ...	ORPHA:435638
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis	OMIM:263520
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora...	OMIM:612582
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Meckel Syndrome, Type 4	Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Gitelman Syndrome	Ataxia, Paralysis, Rhabdomyolysis, Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Tetraamelia Syndrome 2	Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Phaver Syndrome	Pulmonary artery atresia, Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Mgat2-Cdg	Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Recurrent upper and lower ...	ORPHA:79329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Exocrine pancreatic insufficiency	ORPHA:452
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Carpenter Syndrome 1	Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Pu...	OMIM:201000
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong...	OMIM:601808
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale, Oligohydramnios	OMIM:620113
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Polyhydramnios	OMIM:219730
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven...	OMIM:614866
Kleefstra Syndrome	Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art...	ORPHA:261494
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A...	OMIM:300963
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Diabetes mellitus, Patent foramen ovale	OMIM:270450
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:2519
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon...	ORPHA:209905
Inhalational Botulism	Paralysis	ORPHA:254504
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Subvalvular aortic steno...	OMIM:614114
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Camptodactyly	OMIM:617360
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va...	OMIM:609942
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de...	OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Ventricular septal defect	OMIM:617061
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P...	OMIM:300998
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Rabson-Mendenhall Syndrome	Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinem...	ORPHA:769
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:309801
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Mitral valve prolapse, Hematochezia, Telangiecta...	OMIM:175050
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia	OMIM:145420
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Polyhydramnios, Hepatitis, Congenital pulmonary airway malformation, T...	ORPHA:436252
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Estrogen Resistance Syndrome	Glucose intolerance, Hyperinsulinemia	ORPHA:785
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:220500
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:612530
Bohring-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Flexion contracture, Hyperechogenic pancreas, Atrial s...	OMIM:605039
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyl...	OMIM:617602
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ...	OMIM:158170
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Bradycardia	OMIM:218700
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios	ORPHA:96201
Acrocardiofacial Syndrome	Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Atrial septal defect, Mit...	ORPHA:2008
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect	OMIM:613680
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Pmm2-Cdg	Elevated hepatic transaminase, Axial hypotonia, Ataxia, Abnormality of coordination, Multiple joi...	ORPHA:79318
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Char Syndrome	Ventricular septal defect	ORPHA:46627
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Glucose intolerance, Hepatic steatosis, Proximal amyotrophy	ORPHA:189427
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Heart murmur	ORPHA:166035
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor...	ORPHA:99956
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Right bundle branch block, Mi...	OMIM:617506
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl...	OMIM:100300
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect	ORPHA:217346
Focal Dermal Hypoplasia	Acute hepatic failure, Ventricular septal defect, Telangiectasia of the skin, Diastasis recti, Co...	ORPHA:2092
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Polyhydramnios, Abnormal lung morphology, Abnormal lung...	ORPHA:141127
Adult Polyglucosan Body Disease	Ataxia, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Spast...	ORPHA:206583
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Zellweger Syndrome	Hepatomegaly, Jaundice, Hepatic failure, Ventricular septal defect	ORPHA:912
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Incoordination, Portal...	ORPHA:64
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Double outlet right ventricle, Pulmo...	ORPHA:163956
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Kapur-Toriello Syndrome	Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ...	OMIM:244300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pneumonia	OMIM:300472
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Hypoglycemia...	ORPHA:373
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Atrial septal defe...	ORPHA:96167
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Increased...	ORPHA:79345
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Hypokalemia, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f...	ORPHA:3138
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Chops Syndrome	Ventricular septal defect, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia,...	OMIM:616368
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten...	ORPHA:464738
Loeys-Dietz Syndrome 5	Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni...	OMIM:615582
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Co...	ORPHA:506
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:309520
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,...	OMIM:142900
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Macroglossia, Distal arthr...	OMIM:618268
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Mosaic Trisomy 16	Ventricular septal defect, Maternal diabetes, Abnormal lung morphology, Abnormal heart morphology...	ORPHA:1708
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno...	ORPHA:488632
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Ventricular septal defect	OMIM:300514
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Par...	OMIM:190685
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Pulmonic ...	OMIM:610443
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Pulmo...	OMIM:616894
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Macroglossia, Pulmonary...	OMIM:214100
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidia...	OMIM:229850
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal...	OMIM:607721
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Den Hoed-De Boer-Voisin Syndrome	Recurrent lower respiratory tract infections, Ventricular septal defect, Oligohydramnios	OMIM:619229
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Costello Syndrome	Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contra...	OMIM:218040
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Polysp...	OMIM:164280
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h...	ORPHA:444072
Holoprosencephaly	Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, Hypoglycemia, ...	ORPHA:2162
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Flexion contracture, Ventricular septal defect	OMIM:619306
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Aorti...	ORPHA:464311
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia	ORPHA:268249
Lateral Meningocele Syndrome	Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve	OMIM:130720
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect,...	OMIM:614609
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ...	ORPHA:261330
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
C Syndrome	Hepatomegaly, Ventricular septal defect	OMIM:211750
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death	OMIM:620024
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Peripheral pulmonary artery stenosis, Ventricular septal defect, Elevated circulati...	OMIM:280000
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Flexion contracture, Glu...	OMIM:619127
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect	OMIM:106260
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect, Camptodactyly of finger, Hypoglycemia	ORPHA:2710
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia...	ORPHA:508498
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Limb hypertonia	OMIM:609460
Esophageal Atresia	Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Bronchitis, Maternal...	ORPHA:1199
Orofaciodigital Syndrome V	Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Velocardiofacial Syndrome	Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Unilateral primary pulm...	OMIM:192430
Alagille Syndrome 1	Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu...	OMIM:118450
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Sclerosing cholangitis, Hypo...	ORPHA:64744
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
De Barsy Syndrome	Recurrent sinopulmonary infections, Decreased muscle mass, Emphysema, Ventricular septal defect	ORPHA:2962
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a...	OMIM:619575
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa...	ORPHA:3380
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Polyhydramnios, Camptodactyly, Atrial septal defect, Joi...	OMIM:300373
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ...	OMIM:274000
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Flexion contracture, Atrial septal d...	OMIM:147791
Marshall-Smith Syndrome	Ventricular septal defect, Recurrent upper respiratory tract infections, Premature ventricular co...	OMIM:602535
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Heart murmur, Intracranial hemorrhage, Atrial sept...	ORPHA:163979
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Trichothiodystrophy	Cardiomyopathy, Recurrent bronchopulmonary infections, Multiple joint contractures, Ventricular s...	ORPHA:33364
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Aortic valve stenos...	ORPHA:464306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly...	ORPHA:567
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Congenital diap...	OMIM:618454
Keutel Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h...	OMIM:245150
Coffin-Siris Syndrome	Ventricular septal defect, Hepatoblastoma, Recurrent upper respiratory tract infections, Abnormal...	ORPHA:1465
Chromosome 14Q11-Q22 Deletion Syndrome	Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Pulmo...	OMIM:256520
Degcags Syndrome	Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumonia, Polyh...	OMIM:619488
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial sep...	ORPHA:2745
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia, Sinus bradycardia	OMIM:619482
3Mc Syndrome 1	Conjunctival telangiectasia, Atrial septal defect, Ventricular septal defect, Diastasis recti	OMIM:257920
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn...	ORPHA:3047
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Hepatosplenomegaly	OMIM:259730
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Skeletal muscle ...	OMIM:139210
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
African Trypanosomiasis	Hepatomegaly, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Splenome...	ORPHA:3385
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm...	ORPHA:466791
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran...	ORPHA:818
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast...	OMIM:312870
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse	OMIM:617107
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi...	OMIM:143095
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Aniridia 1	Glucose intolerance, Increased proinsulin:insulin ratio	OMIM:106210
Mckusick-Kaufman Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	ORPHA:2473
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Mac...	ORPHA:261337
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi...	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, Type 1 muscle fi...	ORPHA:352665
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Penile Agenesis	Ventricular septal defect, Maternal diabetes, Bilateral lung agenesis, Pulmonary hypoplasia, Atri...	ORPHA:49
Okamoto Syndrome	Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal...	ORPHA:2729
7Q11.23 Microduplication Syndrome	Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Congenital diaphragmatic ...	ORPHA:96121
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Distal Renal Tubular Acidosis	Hypokalemia, Paralysis	ORPHA:18
Pallister-Hall Syndrome	Neonatal death, Abnormal lung lobation, Ventricular septal defect	OMIM:146510
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,...	ORPHA:1507
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Macroglossia, Asp...	ORPHA:444077
Craniofacioskeletal Syndrome	Atrial septal defect, Absent gallbladder, Ventricular septal defect	OMIM:300712
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
Hajdu-Cheney Syndrome	Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Splen...	ORPHA:955
Arboleda-Tham Syndrome	Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Upper...	OMIM:616268
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Abnormal lung lobation, Hypertension, Chol...	OMIM:270400
Ataxia-Telangiectasia	Glucose intolerance, Diabetes mellitus	OMIM:208900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r...	ORPHA:96334
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ...	ORPHA:363958
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type...	OMIM:606721
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe...	ORPHA:904
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Fl...	OMIM:617140
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien...	ORPHA:2929
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Annular pancreas, Hypoplastic left h...	ORPHA:2308
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Hepatic ...	OMIM:619503
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, Chylothorax, Pulmonic stenosis, Atrial septal defect, Hype...	OMIM:163950
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f...	ORPHA:3472
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Pulmonary artery...	ORPHA:459070
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Respiratory tract infection, Flexion...	OMIM:180849
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu...	ORPHA:353281
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect	OMIM:227645
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, E...	ORPHA:508488
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia	OMIM:122470
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri...	OMIM:271640
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de...	ORPHA:124
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Phace Association	Ventricular septal defect	OMIM:606519
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Atrial septal defe...	OMIM:619268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu...	OMIM:619475
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ...	OMIM:613458
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Flexion contracture, Double outlet right ventricle, Mitr...	OMIM:300166
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Williams-Beuren Syndrome	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion...	OMIM:194050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu...	ORPHA:353277
Cerebrocostomandibular Syndrome	Atrial septal defect, Ventricular septal defect, Elbow flexion contracture, Polyhydramnios	OMIM:117650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Patent foramen ovale, Annular pancreas	OMIM:616975
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:154400
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula...	OMIM:619472
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly	OMIM:616145
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Maternal diabetes	OMIM:134780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Pineoblastoma	Paralysis	ORPHA:251909
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Generalized muscle ...	OMIM:235730
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal...	OMIM:214800
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Tsh-Secreting Pituitary Adenoma	Tremor, Hypokalemia, Periodic hypokalemic paresis	ORPHA:91347
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Hajdu-Cheney Syndrome	Ventricular septal defect	OMIM:102500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Pulmonary h...	OMIM:606170
Digeorge Syndrome	Ventricular septal defect, Splenomegaly, Atelectasis, Recurrent pneumonia, Recurrent sinusitis, C...	OMIM:188400
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Ventricular septal defect, Biliary tract abnormality, At...	OMIM:194190
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Elbow fle...	OMIM:268300
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Bilobate gallbladder, Polyhydramnios, Biliary tract a...	OMIM:261540
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Small cell lung carcinoma,...	ORPHA:821
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Pallister-Hall Syndrome	Ventricular septal defect, Abnormal lung lobation, Distal arthrogryposis, Recurrent upper and low...	ORPHA:672
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Atr...	OMIM:135900
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Flexion contracture, Knee flexion co...	OMIM:259050
Cornelia De Lange Syndrome	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr...	ORPHA:199
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis	OMIM:620330
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Aspirat...	OMIM:216340
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia	OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr...	OMIM:601803
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	OMIM:192350
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect	OMIM:615948
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Tetraparesis	OMIM:263570
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Ventricular septal defect	OMIM:619522
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Pulmonary hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial muscul...	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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Pancreas - hyperplasia	Gbe1^{tm1a(KOMP)Wtsi}	HET		Early adult

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 Gbe1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.	Biochimie (April 2021)	Gbe1^{tm1a(KOMP)Wtsi}	33857563
Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.	Archives of biochemistry and biophysics (October 2020)	Gbe1^{tm1a(KOMP)Wtsi}	33049291
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Gbe1^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Gbe1^{tm1a(KOMP)Wtsi}	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gbe1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Gbe1 MGI:1921435

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Gbe1 mutations

Histopathology

IMPC related publications

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