Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Casz1 MGI:1196251

Gene Summary

Name:

castor zinc finger 1

Synonyms:

2410019P08Rik, Cst, D4Ertd432e, castor

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Casz1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
shortened QT interval	Casz1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.39×10^-05
persistence of hyaloid vascular system	Casz1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.02×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	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)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	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	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Eye	N/A	homozygote	50% (1 of 2)
Footplate	N/A	heterozygote	Ambiguous
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	Ambiguous
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	50% (1 of 2)
Hindbrain	N/A	homozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	100% (2 of 2)

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%
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%
esophagus	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%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
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%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

Adult LacZ

LacZ Images Wholemount

20 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Casz1 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 Casz1 (1 diseases)
Human diseases predicted to be associated with Casz1 (977 diseases)

The table below shows human diseases associated to Casz1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
1P36 Deletion Syndrome		Abnormal eyebrow morphology, Abnormal heart valve morphology, Camptodactyly of finger, Abnormalit...	ORPHA:1606

The table below shows human diseases predicted to be associated to Casz1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Carvajal Syndrome	Woolly hair, Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ...	OMIM:612098
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios	OMIM:615731
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios	OMIM:616794
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo...	ORPHA:57777
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, ...	ORPHA:367
Infantile Sialic Acid Storage Disease	Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, A...	OMIM:269920
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Congestive heart failure, Sp...	OMIM:235200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal...	ORPHA:163596
Familial Dyskinesia And Facial Myokymia	Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia	ORPHA:324588
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop...	ORPHA:98909
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Naxos Disease	Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear...	ORPHA:34217
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy...	OMIM:601214
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Congestive heart fa...	OMIM:616866
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, P...	ORPHA:90308
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Facial hypotonia, Polyhydramnios, Highly arched eyebrow, Congestive heart ...	ORPHA:500533
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Lymp...	ORPHA:3386
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu...	ORPHA:79083
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ...	ORPHA:2348
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co...	ORPHA:275766
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr...	ORPHA:1349
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Congestive heart failure, Abnormal heart morphology, Decreased liver fu...	ORPHA:70472
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric...	OMIM:253250
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural...	ORPHA:330001
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the limbs, Lymphedema, Hi...	ORPHA:137667
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Butyrylcholinesterase Deficiency	Congestive heart failure, Abnormality of the liver, Myocardial infarction	ORPHA:132
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Low anterior hairline, Atrial septal ...	ORPHA:363705
Dk1-Cdg	Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy...	ORPHA:91131
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat...	ORPHA:465508
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Camptodactyly of finger, Short neck, Congestive heart failur...	ORPHA:261519
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension	OMIM:619751
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Fetal Minoxidil Syndrome	Ventricular septal defect, Generalized hirsutism	ORPHA:1918
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ventricular sep...	OMIM:613759
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Short neck, Congestive heart failure, Splenomegaly...	OMIM:230500
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, L...	OMIM:615895
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate...	OMIM:611126
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopat...	OMIM:605676
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow	ORPHA:1388
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, S...	ORPHA:746
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Noonan Syndrome 8	Atrial septal defect, Curly hair, Ventricular septal defect, Polyhydramnios, Short neck, Patent d...	OMIM:615355
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ...	ORPHA:185
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Low anterior hairline	OMIM:608227
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction	OMIM:615703
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Low anterior hairline, Low posterior hairline, Skeletal m...	ORPHA:528
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
8P23.1 Duplication Syndrome	Highly arched eyebrow, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Fadd-Related Immunodeficiency	Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Short neck, Congestive heart failure, Patent ductus arteriosus, Flexion contracture...	OMIM:617303
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal ...	OMIM:615279
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter...	ORPHA:354
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g...	OMIM:619259
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:608779
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Short neck, Congestive heart failure, Splenomegaly...	OMIM:309900
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Highly arched eyebrow, Sparse lateral eyebrow	ORPHA:261120
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ...	ORPHA:98908
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomeg...	OMIM:616651
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f...	ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Congestive heart failure, Left ventricular hypertrophy, Hepatic fa...	OMIM:619355
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus arteriosus, Micr...	OMIM:606003
Babesiosis	Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Hepatic fa...	ORPHA:108
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Short neck, Type 1 muscle ...	OMIM:619542
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Sinus bradycardia, Distichiasis	OMIM:126320
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma	ORPHA:141179
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Congestive heart failure, Splenomega...	ORPHA:579
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis	ORPHA:1296
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma	ORPHA:141184
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Li-Campeau Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, ...	OMIM:619189
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal eyelash morphology, Apla...	ORPHA:1425
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du...	OMIM:608149
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Atransferrinemia	Congestive heart failure, Abnormality of the liver	OMIM:209300
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Thick hair, Short neck, Congestive heart failure, Patent du...	ORPHA:505248
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios	ORPHA:139466
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Edema, Myocarditis, Con...	ORPHA:2331
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Short neck, Low posterior hairline, W...	ORPHA:2345
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Highly arched eyebrow	OMIM:616898
Multiple Endocrine Neoplasia Type 1	Melena, Hypertension, Shortened QT interval, Hematemesis	ORPHA:652
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Short neck, Increased nuchal translucency, Patent ductus arteriosus, M...	OMIM:615668
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani...	ORPHA:3260
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Ventricular Septal Defect 3	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios	ORPHA:3405
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Low posterior hairline,...	OMIM:179613
Noonan Syndrome 9	Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, Pulmonic stenosis, Webbed neck	OMIM:616559
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Carney Complex, Type 1	Red hair, Cardiac myxoma, Congestive heart failure, Hirsutism	OMIM:160980
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive...	ORPHA:363618
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Low anterior hairline, Atrial septal defect, ...	OMIM:612946
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly, Ventricular septal defect	OMIM:613730
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Highly arched eyebrow	ORPHA:94066
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Short neck, Congestive heart failure, ...	OMIM:601808
Tyshchenko Syndrome	Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Low anterior hairlin...	OMIM:615102
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Fabry Disease	Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori...	ORPHA:324
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Highly arched eyebrow	ORPHA:228399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Splenomegaly, Congestive heart failure, Jaundice, Myopathy, Cholecystiti...	OMIM:615512
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hydrops fetal...	OMIM:617022
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Low posterior hairline, Short neck	OMIM:214300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Short neck, Flexion contracture, Hydrops...	OMIM:616897
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Atrial...	ORPHA:290
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:1166
Aarskog-Scott Syndrome	Congestive heart failure, High anterior hairline, Camptodactyly of finger, Short neck	ORPHA:915
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Congestive heart...	OMIM:203800
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc...	OMIM:617253
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Noonan Syndrome 10	Atrial septal defect, Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, Increase...	OMIM:616564
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Peritonitis, Vasc...	ORPHA:727
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Colchicine Poisoning	Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogen...	ORPHA:31824
Woods Syndrome	Frontal hirsutism, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom...	ORPHA:91139
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Low posterior hairline, Hypoplastic lef...	OMIM:220210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck	ORPHA:2516
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splen...	ORPHA:525731
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Lymphade...	ORPHA:85450
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios	ORPHA:2256
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Splenomegaly,...	ORPHA:231226
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Pericardial effusion, ...	OMIM:618775
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Synophrys, Abnormal heart morphology, Atrial septal defect, Truncus ar...	ORPHA:401935
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure...	ORPHA:33226
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Filippi Syndrome	Sparse hair, Frontal hirsutism, Ventricular septal defect, Hypertrichosis	OMIM:272440
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jau...	OMIM:613404
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Ventricular septal defect, Facial hypotonia, Short neck, Low posteri...	ORPHA:85194
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Scorpion Envenomation	Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe...	ORPHA:466677
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ...	OMIM:619123
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Mit...	ORPHA:1900
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t...	ORPHA:171
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Optic atrophy, Cardiomyopathy	ORPHA:1177
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardi...	OMIM:242840
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Brittle hair, Palpebral edema, Diastasis recti, Cardiomegaly,...	OMIM:252500
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect, Thin eyebrow, Supernumerary nipple	OMIM:617635
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai...	OMIM:615630
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Avian Influenza	Elevated hepatic transaminase, Congestive heart failure, Rhabdomyolysis, Hepatitis, Pleural effusion	ORPHA:454836
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen...	OMIM:618870
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Joubert Syndrome 18	Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly	OMIM:614815
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d...	OMIM:608978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Highly arched eyebrow, Patent...	OMIM:618316
Spinal Arteriovenous Metameric Syndrome	Lymphangioma, Congestive heart failure	ORPHA:53721
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio...	OMIM:603387
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Fronta...	ORPHA:506
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Short neck, Abnormal hair morphology, Mitral valve pro...	ORPHA:3071
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Fetal Trimethadione Syndrome	Ventricular septal defect, Synophrys, Transposition of the great arteries, Atrial septal defect, ...	ORPHA:1913
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Webbed neck, Atrial septal ...	OMIM:617478
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Pulmonary ...	ORPHA:220393
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,...	ORPHA:231214
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega...	OMIM:614576
Erdheim-Chester Disease	Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Joint swelli...	ORPHA:35687
Contractural Arachnodactyly, Congenital	Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arte...	OMIM:121050
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Congestive heart failure	ORPHA:137608
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Noonan Syndrome 4	Curly hair, Ventricular septal defect, Polyhydramnios, Short neck, Sparse eyebrow, High anterior ...	OMIM:610733
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly,...	OMIM:615673
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Short neck, Thyroid lymphang...	OMIM:235255
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Short neck, Low anterior hairline, Abnormal heart morphology, Macroglo...	ORPHA:369891
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Martsolf Syndrome 1	Cardiac arrest, Congestive heart failure, Low anterior hairline, Low posterior hairline, Cardiomy...	OMIM:212720
Suleiman-El-Hattab Syndrome	Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Synophrys, Webbed neck, Atrial s...	OMIM:618950
Tetrasomy 5P	Short neck, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Heart...	ORPHA:3309
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:619343
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Short neck	ORPHA:93267
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Abnormal hair whorl, Atrial septal defect, Patent foramen ovale, Right...	OMIM:614261
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Short neck, Synophrys, Mitral regurgitation, Atr...	ORPHA:254346
Noonan Syndrome 2	Curly hair, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Short neck, Sparse eyebro...	OMIM:605275
Geleophysic Dysplasia 1	Hepatomegaly, Camptodactyly of finger, Tricuspid stenosis, Congestive heart failure, Aortic valve...	OMIM:231050
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, Patent ductus arterios...	OMIM:618142
Keutel Syndrome	Pulmonary arterial hypertension, Alopecia, Ventricular septal defect	ORPHA:85202
Jansen-De Vries Syndrome	Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve	OMIM:617450
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Congestive heart failure, Flexion contracture, Dehydration, Hepatic steatosis	OMIM:616271
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Thin skin	OMIM:166210
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Low anterior ...	OMIM:619909
Donnai-Barrow Syndrome	Widow's peak, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Synophrys, Ventricular septal defect, Dextrocardia	OMIM:618067
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Synophrys, ...	OMIM:614294
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Werner Syndrome	Skeletal muscle atrophy, Sparse scalp hair, Telangiectasia of the skin, Myocardial infarction, Co...	ORPHA:902
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Tetralogy...	ORPHA:1727
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly	OMIM:301039
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Horizontal eyebrow, Atr...	OMIM:615879
Listeriosis	Pericarditis, Liver abscess, Myocarditis, Congestive heart failure, Rhabdomyolysis, Jaundice, Per...	ORPHA:533
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus...	ORPHA:500159
Braddock-Carey Syndrome 1	Curly hair, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Sparse hair	OMIM:619980
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa...	OMIM:618494
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Dextrotransposition of t...	OMIM:618619
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Short neck	OMIM:609654
Coffin-Siris Syndrome 7	Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foram...	OMIM:618027
Ogden Syndrome	Torticollis, Ventricular septal defect, Fine hair, Cardiogenic shock, Arrhythmia, Aplasia/Hypopla...	ORPHA:276432
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu...	OMIM:619657
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Abnormal heart valve morphology...	ORPHA:99776
Emanuel Syndrome	Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction	OMIM:176670
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Coarse hair, Nail dystrophy, Atrial septal defect	ORPHA:75389
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia, Jaundice	ORPHA:90033
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Optic atrophy, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomy...	OMIM:616878
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Synophrys, Long eyelashes, Arthrogryposis multiplex congenita, Patent ...	OMIM:614961
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Ventricular septal de...	ORPHA:84064
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, He...	ORPHA:14
Skraban-Deardorff Syndrome	Ventricular septal defect, Sparse lateral eyebrow	OMIM:617616
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,...	OMIM:170390
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne...	OMIM:265380
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia, Optic atrophy	ORPHA:480864
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di...	ORPHA:477817
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Highly arched eyebrow, Short neck, Flexion contracture, Long eyelashes...	OMIM:617452
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Increased size of nasopharyngeal adenoids, Patent ductus arteriosus, Ventri...	OMIM:619769
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Secundum atrial sep...	OMIM:600987
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:1926
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus...	ORPHA:329224
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormal ...	OMIM:301056
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Sp...	OMIM:256040
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck	OMIM:612938
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hematochezia, Hypoplasia of t...	OMIM:243150
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios	ORPHA:1923
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus...	OMIM:617751
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Curly hair, Brittle hair, Ventricular septal defect, Polyhydr...	OMIM:222470
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Abnormal tricuspid valve...	ORPHA:7
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Short neck, Splenomegaly, Pancreatic lym...	ORPHA:1655
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Atrial septal defect, ...	ORPHA:2519
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect,...	OMIM:616777
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dilated cardiomyopathy, Optic atrophy	ORPHA:66634
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventricular septal defect, Limb joint contracture, Highly arched eyebrow, Short neck, Long eyelas...	ORPHA:505237
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Ventricular septal defect, Thick hair, Highly arched eyebrow, Congestive heart failur...	ORPHA:444077
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Inverted Duplicated Chromosome 15 Syndrome	Synophrys, Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval	ORPHA:231111
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Telangiectasia, Frontal upsweep ...	OMIM:612582
Kury-Isidor Syndrome	Alopecia, Ventricular septal defect, Hypertrichosis, Short neck	OMIM:619762
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atr...	ORPHA:488618
Aceruloplasminemia	Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis,...	ORPHA:48818
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Carpenter Syndrome 1	Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Transpositi...	OMIM:201000
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short neck, Congestive heart failure, Small thenar...	OMIM:105650
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Short neck, Congestive heart failure, Hypertension, Ischemic stroke, C...	ORPHA:1830
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia	OMIM:616920
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, ...	OMIM:617061
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Ventricular septal defect	OMIM:616901
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, High-output congestive heart failure, Jaund...	ORPHA:231222
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Ventricular septal defect, Sparse eyelashes, Abnormality of hair texture, Nail dyst...	OMIM:234050
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Highly arched eyebrow, Short neck, Patent ductus arteriosus, Heart mur...	OMIM:158170
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Generalized hirsutism, Edema	ORPHA:2505
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin...	ORPHA:217346
Emanuel Syndrome	Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma...	ORPHA:96170
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insufficiency	ORPHA:452
Insulin-Like Growth Factor I, Resistance To	Sparse scalp hair, Ventricular septal defect, Highly arched eyebrow, Synophrys, Webbed neck, Atri...	OMIM:270450
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Hepatitis, Renovascular hypertension, Hepatosplenomegaly, Pulmonary art...	ORPHA:391487
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Patent ductus arteriosus, Low pos...	OMIM:244300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Scalp-Ear-Nipple Syndrome	Palpebral edema, Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Congestive heart failur...	OMIM:181270
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl...	OMIM:270100
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency	OMIM:260450
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Heart murmur	ORPHA:166035
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Trisomy 13	Ventricular septal defect, Abnormal eyelash morphology, Patent ductus arteriosus, Hydrops fetalis...	ORPHA:3378
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect, High anterior hairline	OMIM:613680
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect, Short neck	OMIM:615583
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ...	ORPHA:457279
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ...	ORPHA:79329
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Pulmonary arteria...	OMIM:620025
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe...	OMIM:609942
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven...	OMIM:614866
Atypical Werner Syndrome	Abnormal hair quantity, Skeletal muscle atrophy, Alopecia, Telangiectasia of the skin, Abnormal h...	ORPHA:79474
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple	ORPHA:46627
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm...	OMIM:600001
Codas Syndrome	Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common...	OMIM:619702
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Tricuspid regurgitation, Ventricular septal defect, Slow-growing hair, Polyhydramnios...	OMIM:617506
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Broad eyebrow, Abnormal heart morphology	ORPHA:494344
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Alagille Syndrome	Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cholestasis, Hypertension, R...	ORPHA:52
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Ventricular septal defect, Highly arched eyebrow, Polyhydramnios, Low posterior hairl...	OMIM:617360
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck	ORPHA:2328
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s...	OMIM:617156
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hepatitis, Hy...	ORPHA:436252
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Short neck, Elbow flexion contract...	OMIM:178110
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, H...	OMIM:182250
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Hy...	OMIM:620113
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Polyhydramnios	OMIM:219730
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension, Optic nerve hypoplasia	OMIM:620029
Meckel Syndrome, Type 4	Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Chops Syndrome	Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Patent ductus arteriosus, Synoph...	OMIM:616368
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Edema, Short neck, Splenomegaly, Patent ...	OMIM:269860
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect, Highly arched eyebrow	OMIM:614424
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Transposition of the grea...	ORPHA:1780
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Low anterior hairline, Highly arched eyebrow, Abnormal heart morphology	ORPHA:404440
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Polyhydramnios, S...	OMIM:607721
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patent ductu...	OMIM:106260
Bohring-Opitz Syndrome	Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Flexion contracture,...	OMIM:605039
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Low posterior hairl...	OMIM:300963
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Thick eyebrow, Ventricular septal defect, Bicuspid aortic valve, High...	OMIM:610759
Incontinentia Pigmenti	Alopecia, Telangiectasia of the skin, Camptodactyly of finger, Supernumerary nipple, Abnormal hai...	ORPHA:464
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Low anterior hairline	OMIM:220500
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Highly arched eyebrow, Short neck, Synophrys, Sp...	OMIM:609460
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple	ORPHA:3255
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Curly hair, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus ...	OMIM:618268
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot...	OMIM:115470
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Abnormal hair pattern	ORPHA:1770
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ...	ORPHA:79328
Acrocardiofacial Syndrome	Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Long eyelashes, Atrial septa...	ORPHA:2008
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect, Hirsutism, Short neck	OMIM:620073
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Congenital diaphragmatic hernia, Thin s...	OMIM:617602
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Short neck, Low posterior hairline, Mitral sten...	ORPHA:96201
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Congestive heart failure, Pedal edema	ORPHA:247353
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios	OMIM:611812
Fanconi Anemia, Complementation Group N	Ventricular septal defect, Short neck	OMIM:610832
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Breas...	ORPHA:3138
Radio-Tartaglia Syndrome	Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Synophrys, Low an...	OMIM:619312
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short neck	ORPHA:52055
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Short neck	OMIM:609053
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failu...	ORPHA:91347
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Sparse hair	OMIM:616449
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Dilatation of the ventricular cavity, Abnormal cardiac ventricular func...	ORPHA:90349
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Flexion contracture, Ventricular septal defect	OMIM:619306
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal hair pattern, Highly arched eyebrow, Dilated cardiomyopathy, ...	ORPHA:261250
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Short neck, Sparse eyebrow, Mitral valve prola...	ORPHA:444072
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Mac...	ORPHA:96191
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia	OMIM:612530
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Broad eyebrow, Ventricular sept...	OMIM:619475
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short neck, Patent d...	OMIM:616894
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios	OMIM:615503
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductu...	OMIM:130720
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ...	ORPHA:1692
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Widow's peak, Ventricular septal defect, Highly arched eyebrow	OMIM:145420
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent...	OMIM:164280
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Ventricular septal defect, Abnormal hair whorl, Patent ductus arteriosus, ...	ORPHA:163956
Focal Dermal Hypoplasia	Acute hepatic failure, Alopecia, Ventricular septal defect, Camptodactyly of finger, Diastasis re...	ORPHA:2092
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Thick eyebrow, Ventricular septal defect, Diastasis recti, Short neck, S...	ORPHA:488632
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Sparse hair, Subvalvular aortic stenosis, Atrial...	OMIM:614114
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,...	ORPHA:209905
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Alopecia, Myocarditis, Congestive heart failure, Spleno...	ORPHA:3385
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Supernumerary nipple, Sy...	ORPHA:261494
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Abnormal hair morphology, Patent ductus arter...	ORPHA:96167
Sotos Syndrome	Ventricular septal defect, Sparse eyebrow, Muscular ventricular septal defect, Patent ductus arte...	OMIM:117550
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P...	OMIM:300998
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe...	ORPHA:904
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormality of hair texture, Patent ductus arte...	OMIM:610443
Teebi-Shaltout Syndrome	Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Campt...	OMIM:272950
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect, Short neck	ORPHA:251038
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect	OMIM:618021
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve, Sparse lateral eyebrow	OMIM:619103
Costello Syndrome	Curly hair, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Short neck, Achilles ten...	OMIM:218040
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Ventricular septal defect, Patent foramen ovale, Mitral ...	OMIM:615582
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Alopecia, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:309520
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect, Short neck	OMIM:300472
Distal Deletion 19P	Alopecia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, Thick eye...	ORPHA:96129
Coffin-Siris Syndrome 4	Sparse scalp hair, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglos...	OMIM:614609
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Rabson-Mendenhall Syndrome	Ventricular septal defect, Thick hair, Low anterior hairline, Premature graying of hair, Macroglo...	ORPHA:769
Adams-Oliver Syndrome 1	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertension, H...	OMIM:100300
Cerebellofaciodental Syndrome	Ventricular septal defect, Short neck, Sparse eyebrow, Fine hair, Mitral valve prolapse	OMIM:616202
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Ventricular septal defect, Sparse eyebrow, Atrial septal defect, Pulmonary art...	ORPHA:464738
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic...	OMIM:263520
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:610338
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Highly arched eyebrow, S...	OMIM:257920
Zellweger Syndrome	Hepatomegaly, Jaundice, Hepatic failure, Ventricular septal defect	ORPHA:912
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic...	OMIM:619991
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Short neck, Micro...	OMIM:300855
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Short neck	OMIM:300514
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Long eyelashes,...	OMIM:606232
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Ventricular septal defect, Short neck, Long eyelashes, Sparse hair, Hirsutism	OMIM:212066
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Abnormal lymphatic vessel morpholo...	ORPHA:90307
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia	ORPHA:268249
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Mitral valve prolapse	ORPHA:558
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Short neck, Aplasia of the ...	OMIM:229850
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Sparse hair, High anterior hairline	OMIM:250410
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Mitral regu...	ORPHA:90348
Lateral Meningocele Syndrome	Ventricular septal defect, Low posterior hairline, Short neck	ORPHA:2789
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten...	ORPHA:464311
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure...	ORPHA:2108
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal...	ORPHA:508498
Okamoto Syndrome	Facial hypertrichosis, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morpholog...	ORPHA:2729
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
C Syndrome	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Pat...	ORPHA:261337
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Thin skin, Sparse hair	ORPHA:2962
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Highly arched eyebrow, Supernumerary ...	OMIM:618454
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Ventricular septal defect, Camptodactyly of finger, Slow-growing hair, ...	ORPHA:2710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracrani...	ORPHA:163979
Autosomal Dominant Hypocalcemia	Alopecia, Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Myhre Syndrome	Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Generalize...	OMIM:139210
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, ...	ORPHA:261330
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal...	ORPHA:79345
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Hepatoblastoma, Patent ductus arteri...	ORPHA:1465
Ellis Van Creveld Syndrome	Abnormal hair quantity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology,...	ORPHA:289
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal hair morphology, Synophr...	ORPHA:251014
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Webbed neck,...	ORPHA:3380
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:280000
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolapse, Mitral regurgitation, Hepatic art...	OMIM:175050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Camptoda...	OMIM:143095
Cohen Syndrome	Ventricular septal defect, Thick hair, Abnormal eyelash morphology, Low anterior hairline, Mitral...	ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 53	Frontal upsweep of hair, Ventricular septal defect	OMIM:617798
Hajdu-Cheney Syndrome	Hepatomegaly, Ventricular septal defect, Mitral stenosis, Short neck, Splenomegaly, Patent ductus...	ORPHA:955
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Webbed neck, C...	OMIM:300373
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular...	ORPHA:466791
Den Hoed-De Boer-Voisin Syndrome	Widow's peak, Ventricular septal defect, Thick eyebrow, Oligohydramnios	OMIM:619229
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosu...	OMIM:214100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair, Ventricular septal defect, Short neck	ORPHA:251028
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter...	ORPHA:464306
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension	ORPHA:79443
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Situs ...	ORPHA:2461
Trichothiodystrophy	Sparse scalp hair, Brittle hair, Multiple joint contractures, Ventricular septal defect, Cardiomy...	ORPHA:33364
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ...	OMIM:274000
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Jacobsen Syndrome	Ventricular septal defect, Short neck, Abnormal eyelash morphology, Flexion contracture, Atrial s...	OMIM:147791
Dpagt1-Cdg	Diffuse optic disc pallor, Prolonged QT interval, Optic atrophy, Intracranial hemorrhage	ORPHA:86309
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Thin skin	OMIM:225400
Degcags Syndrome	Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, Atrial septal defect...	OMIM:619488
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Sparse eyebrow, Sparse hair, Thin skin, Atrial septal defect	OMIM:244450
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Sparse anterior scalp hai...	ORPHA:96121
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Chromosome 16P13.3 Duplication Syndrome	Facial hypotonia, Ventricular septal defect, Short neck, Synophrys, Low anterior hairline, Webbed...	OMIM:613458
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly...	ORPHA:567
Noonan Syndrome 1	Ventricular septal defect, Short neck, Lymphedema, Patent ductus arteriosus, Low posterior hairli...	OMIM:163950
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Sparse scalp hair, Ventricular septal defect, Shoulder flexion contracture, Spar...	OMIM:210710
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Widow's peak, Atrial ...	ORPHA:1519
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Short neck, Low anterior hairline, Abnormal...	ORPHA:124
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Coarse hair, S...	ORPHA:1071
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse	OMIM:617107
Congenital Sialidosis Type 2	Abnormal EKG, Optic atrophy, Telangiectasia	ORPHA:93400
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Widow's pea...	ORPHA:2745
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Pulmonic stenosis, Supravalvar pulm...	OMIM:620185
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Increased nuchal transluc...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Increased nuchal transluc...	ORPHA:352665
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Hepatoblastoma, Atrial septal defect, Hepatomega...	OMIM:312870
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Short nail, Short neck, Flex...	OMIM:271640
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr...	ORPHA:3047
Marshall-Smith Syndrome	Brittle hair, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Synophr...	OMIM:602535
Cornelia De Lange Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly a...	OMIM:122470
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Mosaic Trisomy 16	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
Carney Complex	Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Hepatocellular ...	ORPHA:1359
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventratio...	OMIM:619503
Craniofacioskeletal Syndrome	Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect	OMIM:300712
Opitz Gbbb Syndrome	Widow's peak, Ventricular septal defect	OMIM:300000
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Autosomal Recessive Robinow Syndrome	Alopecia, Ventricular septal defect, Camptodactyly of finger, Abnormal pulmonary valve morphology...	ORPHA:1507
Jacobsen Syndrome	Ventricular septal defect, Short neck, Annular pancreas, Hypoplastic left heart, Webbed neck, Aor...	ORPHA:2308
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Flexion contracture, Low anterior hairline, Hepatic hemangioma, Atrial septal def...	OMIM:180849
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Short neck, Absent eyelashes, Patent ductus arteriosus...	OMIM:256520
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, Hypoplastic l...	ORPHA:141127
Johanson-Blizzard Syndrome	Hepatomegaly, Sparse scalp hair, Fair hair, Ventricular septal defect, Elevated circulating aspar...	OMIM:243800
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Curly hair, Ventricular septal defect, Sparse eyebrow, ...	OMIM:617140
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Mosaic Trisomy 20	Abnormal mitral valve morphology, Long neck, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, W...	OMIM:117650
Arboleda-Tham Syndrome	Ventricular septal defect, Highly arched eyebrow, Secundum atrial septal defect, Patent ductus ar...	OMIM:616268
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Cerebrocostomandibular Syndrome	Ventricular septal defect, Webbed neck	ORPHA:1393
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect	OMIM:227645
Yunis-Varon Syndrome	Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Polyhydramnios, Cardiomegaly, Spa...	ORPHA:3472
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck,...	ORPHA:818
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Diastasis recti, Interphalangeal joint contracture of fi...	ORPHA:96334
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Hajdu-Cheney Syndrome	Thick eyebrow, Ventricular septal defect, Short nail, Short neck, Patent ductus arteriosus, Synop...	OMIM:102500
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Hi...	ORPHA:97360
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Fine hair, Transposition of the great arteries, S...	ORPHA:3474
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Highly arched eyebrow, Short neck, Comple...	ORPHA:508488
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Po...	OMIM:609049
Alagille Syndrome 1	Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu...	OMIM:118450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Intraventricular...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Intraventricular...	ORPHA:363958
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Synophrys, Ventricular septal hypertrophy, Thin eyebrow, Oligohydramnios	OMIM:608670
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Par...	OMIM:301044
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Thin eyebrow, Camptodactyly	OMIM:616145
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou...	OMIM:300166
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction	ORPHA:268
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect	OMIM:146510
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint...	ORPHA:459070
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Patent ductus arteriosus, Widow's peak, Annular pancreas, Patent foram...	OMIM:616975
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:881
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hypertension, Ch...	OMIM:270400
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus...	OMIM:154400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Ventricular septal defect, Highly arched eyebrow, Biliar...	OMIM:194190
Renpenning Syndrome 1	Brittle hair, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Sparse hair...	OMIM:309500
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios	ORPHA:1199
Alström Syndrome	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, M...	ORPHA:64
Ulnar-Mammary Syndrome	Ventricular septal defect, Sparse axillary hair, Elbow flexion contracture, Hypoplastic nipples, ...	OMIM:181450
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Short nail	OMIM:150250
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353281
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal...	OMIM:214800
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale, Supernumerary nipple	OMIM:613884
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Short nec...	OMIM:268300
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Mowat-Wilson Syndrome	Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:235730
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Omodysplasia 1	Atrial septal defect, Ventricular septal defect, Short neck	OMIM:258315
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353277
Peters-Plus Syndrome	Facial hypertrichosis, Ventricular septal defect, Diastasis recti, Polyhydramnios, Short neck, Bi...	OMIM:261540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:438213
Cornelia De Lange Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly a...	ORPHA:199
Digeorge Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal thymus morphology, Hy...	OMIM:188400
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Bicuspid aortic valve, Ventricular septal defect, Portal hypertens...	OMIM:194050
Orofaciodigital Syndrome Type 14	Webbed neck, Patent ductus arteriosus, Ventricular septal defect, Short neck	ORPHA:434179
Viss Syndrome	Sparse scalp hair, Epidural hemorrhage, Alopecia, Ventricular septal defect, Coronary sinus enlar...	OMIM:619472
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect, Sparse lateral eyebrow	ORPHA:513456
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Coffin-Siris Syndrome 1	Facial hypertrichosis, Sparse scalp hair, Dry hair, Ventricular septal defect, Congenital diaphra...	OMIM:135900
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien...	ORPHA:2929
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Ventricular septal defect, Polyhydramnios, Knee flexion contr...	OMIM:606170
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Proboscis Lateralis	Abnormal eyebrow morphology, Patent ductus arteriosus, Ventricular septal defect, Abnormal locati...	ORPHA:141099
Pallister-Killian Syndrome	Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Flexion...	OMIM:601803
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Sparse anterior scalp hair...	ORPHA:821
Kabuki Syndrome 1	Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Atrial sep...	OMIM:147920
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Ventricular septal defect, Sparse eyelashes, Polyhydramnios, Sp...	OMIM:216340
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Distal arthrogryposis, Atrial septal defect,...	ORPHA:672
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Short neck	OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Highly arc...	ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Norrie Disease	Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy	ORPHA:649
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial mu...	OMIM:164210
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Abnormal heart valve morphology, Camptodactyly of finger, Abnormalit...	ORPHA:1606

Histopathology

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

There is no histopathology data for Casz1

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 Casz1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A conserved regulatory logic controls temporal identity in mouse neural progenitors.	Neuron (February 2015)	Casz1^{tm1a(EUCOMM)Hmgu}	PMC5912935

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
Casz1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Casz1^{tm1c(EUCOMM)Hmgu}	Wild type floxed exon (post-Flp)	Mice
Casz1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Casz1^{tm1a(EUCOMM)Hmgu}	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Casz1 MGI:1196251

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

X-ray

Echo

X-ray

MicroCT E14.5-E15.5

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Casz1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data