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Gene: Ywhae MGI:894689

Gene Summary

Name:

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Synonyms:

14-3-3 epsilon

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Ywhae^{tm1e(EUCOMM)Wtsi}
head, WT, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
head, WT, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
body, WT, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
head, WT, Male, WTSI

View all 133 images

Ywhae^{tm1e(EUCOMM)Wtsi}
left eye, WT, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
right eye, WT, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
cornea/lens fusion, HOM, Female, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
abnormal placement of pupils, abnormal pupil morphology, HOM, Male, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
right eye, WT, Male, WTSI

View all 7 images

Ywhae^{tm1e(EUCOMM)Wtsi}
tail skin, WT, Female, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
abnormal hair follicle morphology, HOM, Female, WTSI

View all 6 images

Ywhae^{tm1e(EUCOMM)Wtsi}
abnormal ear rotation, HOM, Female, WTSI

Ywhae^{tm1e(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Ywhae 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 Ywhae (2 diseases)
Human diseases predicted to be associated with Ywhae (898 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Miller-Dieker Syndrome		Lissencephaly	ORPHA:531
17P13.3 Microduplication Syndrome			ORPHA:217385

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

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Nondisjunction	Decreased fertility	OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Spermatogenic Failure 17	Male infertility	OMIM:617214
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar...	ORPHA:1209
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Chudley-Mccullough Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Pol...	OMIM:604213
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Isolated Right Ventricular Hypoplasia	Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent...	ORPHA:439
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Cyanosis, Ventricular septal defect, Abnorm...	ORPHA:860
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Jaundice, Ventricular septal defect	OMIM:614876
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Band Heterotopia	Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr...	OMIM:600348
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent...	OMIM:619371
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:1918
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chylopericardium, Pulmonic stenosis,...	ORPHA:2414
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Perching Syndrome	Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect	OMIM:615731
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous...	ORPHA:555874
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Cyanosis, Left-to-right shunt, Abnormally loud pulm...	ORPHA:99104
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Cutis marmorata	OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale	OMIM:263000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Death in childhood	OMIM:613759
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Congenital Fibrinogen Deficiency	Tachycardia, Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Internal hemorrhage...	ORPHA:335
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST...	OMIM:261740
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul...	ORPHA:422
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hy...	ORPHA:3426
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Asbestos Intoxication	Cyanosis, Right ventricular failure, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Hepatojugular...	ORPHA:2302
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism	OMIM:616816
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona...	ORPHA:3427
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis	ORPHA:2901
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Polymicrogyria, Abnormal cortical gyration	OMIM:619602
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular...	OMIM:115197
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M...	OMIM:616212
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Cardiac Valvular Dysplasia 1	Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Tricuspid regur...	OMIM:212093
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas...	ORPHA:2038
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens...	ORPHA:98913
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Abnormal hemidiaphragm morphology, Atrial fi...	ORPHA:980
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricl...	ORPHA:3304
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Heart murmur, Abnormal heart morphology	ORPHA:1867
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M...	ORPHA:2326
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly	ORPHA:391428
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Ventricular septal defect, Left-to-right shunt, Congestive heart failure, Left ventricu...	ORPHA:99050
Lambert Syndrome	Jaundice, Ventricular septal defect	ORPHA:1296
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Subependymal Nodular Heterotopia	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ...	ORPHA:101030
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis	OMIM:618624
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Primary Pulmonary Hypoplasia	Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Hypoxemia	ORPHA:2257
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Truncus...	OMIM:616589
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Hypogon...	OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract...	OMIM:613870
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, ...	ORPHA:183
Noonan Syndrome 8	Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Palmoplantar cutis laxa, Atri...	OMIM:615355
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis...	ORPHA:89844
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Acquired Methemoglobinemia	Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Ventricular septal defect, Tachycardia,...	ORPHA:137675
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:619189
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Pulmonary Capillary Hemangiomatosis	Cyanosis, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hypoxemia...	ORPHA:199241
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ...	OMIM:612561
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Buerger Disease	Vasculitis, Acrocyanosis	ORPHA:36258
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Waardenburg Syndrome Type 3	Atrial septal defect, Acrocyanosis, Camptodactyly of finger	ORPHA:896
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Cyanosis, Hypoxemia	ORPHA:79126
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension	ORPHA:70587
Heterotaxy, Visceral, 1, X-Linked	Right atrial isomerism, Cyanosis, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardi...	OMIM:306955
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Breath-Holding Spells	Cyanosis	OMIM:607578
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Ventricular septal defect	OMIM:147800
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Cutis marmorata	OMIM:602501
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:3384
Aicardi-Goutieres Syndrome 1	Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:1166
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Joint contracture of the hand, Pulmonic stenosis, Camptodactyly, Atria...	OMIM:179613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray ...	OMIM:614643
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Woods Syndrome	Ventricular septal defect	OMIM:615236
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Jaundice, Arthrogryposis multiplex congenita, Right ...	OMIM:613404
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
Meckel Syndrome 14	Tricuspid regurgitation, Mitral regurgitation, Cyanosis, Single ventricle	OMIM:619879
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture	ORPHA:284417
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect, Cutis marmorata, Death in childhood	OMIM:612938
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Meacham Syndrome	Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl...	OMIM:608978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology	OMIM:600901
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Acrocyanosis, Joint contracture of the 5th finger, Atrioventricular block	OMIM:614407
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Ventricular septal defect	ORPHA:290
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Bicuspid ...	ORPHA:363705
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abn...	ORPHA:95430
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
High Altitude Pulmonary Edema	Hypoxemia, Tachycardia, Cyanosis	ORPHA:330012
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology	OMIM:227650
Fucosidosis	Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly	ORPHA:349
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Atrial flutter, Overriding aorta, Ventricular septal defect	OMIM:601927
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Macroglossia, Hypotension, Atrial septal defect, Patent foramen ovale	OMIM:615668
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio...	OMIM:603387
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Jaundice, Atrial septal defect, Arthrogryposis multi...	OMIM:208085
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Fanconi Anemia, Complementation Group C	Flexion contracture, Bruising susceptibility, Ventricular septal defect, Prolonged G2 phase of ce...	OMIM:227645
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:616901
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Abnormal heart morphology	ORPHA:254534
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:899
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Hypoplastic right heart	OMIM:618142
Tetrasomy 5P	Cyanosis, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Heart m...	ORPHA:3309
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly	OMIM:301039
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Joubert Syndrome 18	Ventricular septal defect, Camptodactyly	OMIM:614815
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid...	ORPHA:7
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,...	ORPHA:210122
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ...	OMIM:617021
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Prematurely aged appearance, Ventricular septal defect, Progeroid facial ap...	OMIM:123700
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect	ORPHA:452
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Kne...	OMIM:121050
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage	ORPHA:49566
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata	OMIM:613398
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di...	ORPHA:477817
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Death in infancy, Cyanosis, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Chiari Malformation Type Ii	Limb muscle weakness, Cyanosis	OMIM:207950
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:610733
Unilateral Polymicrogyria	Cyanosis, Epistaxis, Abnormal heart morphology	ORPHA:268943
Eosinophilic Fasciitis	Muscular edema, Myositis, Acrocyanosis	ORPHA:3165
Prune Belly Syndrome	Ventricular septal defect, Cryptorchidism, Aplasia of the abdominal wall musculature, Decreased f...	ORPHA:2970
Primary Hyperoxaluria	Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten...	ORPHA:416
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia	OMIM:619909
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis, Pulmonary arterial hypertension	OMIM:265120
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic...	OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent...	OMIM:618316
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Atrial septal defect, Paten...	OMIM:618870
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Congenital Myasthenic Syndrome	Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu...	ORPHA:98914
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Ventricular septal defect, Endometriosis	OMIM:613680
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu...	OMIM:615219
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Facial palsy, Congestiv...	ORPHA:31826
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	OMIM:618494
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Transaldolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Telangiectasia	OMIM:606003
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Ogden Syndrome	Cardiogenic shock, Torticollis, Ventricular septal defect, Arrhythmia	ORPHA:276432
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, Type II lissencephaly	ORPHA:370959
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal dea...	OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Flexion contracture, Pulmonic stenosis, Atrial septal...	OMIM:608149
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ...	ORPHA:740
Diabetic Embryopathy	Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def...	ORPHA:1926
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
Methimazole Embryofetopathy	Ventricular septal defect	ORPHA:1923
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic...	OMIM:605275
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdomyolysis, Dilat...	OMIM:614921
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Transketolase Deficiency	Ventricular septal defect, Secondary amenorrhea, Abnormal heart morphology, Atrial septal defect,...	ORPHA:488618
Sepsis In Premature Infants	Tachycardia, Cyanosis, Jaundice, Bradycardia, Hypotension, Petechiae, Purpura	ORPHA:90051
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora...	OMIM:612582
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:2519
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Join...	OMIM:609029
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Fanconi Anemia, Complementation Group D2	Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology	OMIM:227646
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul...	ORPHA:3097
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect	OMIM:619769
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia	OMIM:610978
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Erythema, Vasculiti...	ORPHA:221
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Hypothalamic ha...	OMIM:619775
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Acrocardiofacial Syndrome	Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep...	ORPHA:2008
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ...	ORPHA:435638
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonary vascular res...	ORPHA:60025
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Death in infancy, Ventricular septal defect	OMIM:614576
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Neurocutaneous Melanocytosis	Death in infancy, Abnormality of neuronal migration	ORPHA:2481
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Hypert...	OMIM:614653
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Reduced subcutaneous adipo...	OMIM:270450
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Limb hypertonia	OMIM:619580
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Cyanosis	ORPHA:2886
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Char Syndrome	Ventricular septal defect	ORPHA:46627
Poems Syndrome	Pericardial effusion, Pulmonary arterial hypertension, Acrocyanosis	ORPHA:2905
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Cyanosis	ORPHA:1199
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper...	ORPHA:48435
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, Arthrogryposis ...	OMIM:301056
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis	OMIM:613001
Congenital Tracheal Stenosis	Ventricular septal defect, Cyanosis, Hypoplastic left heart	ORPHA:141127
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Aplasia/Hypoplasia ...	ORPHA:354
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Death in infancy, Ventricular septal defect, Death in childhood	OMIM:243150
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:157
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Limb hypertonia	OMIM:616920
Alagille Syndrome	Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect	ORPHA:52
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:220500
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Heart murmur	ORPHA:166035
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Zellweger Syndrome	Death in infancy, Jaundice, Ventricular septal defect	ORPHA:912
Trisomy 13	Atrial septal defect, Ventricular septal defect	ORPHA:3378
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri...	ORPHA:1335
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Elbow flexion contracture, Mitr...	OMIM:602782
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa...	OMIM:601808
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Small hypothenar eminence, Tetralogy of Fallot, Ventricular septal...	OMIM:612562
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Ventricular septal defect	OMIM:617061
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration	OMIM:608836
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ...	OMIM:158170
Carpenter Syndrome 1	Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Pu...	OMIM:201000
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:616777
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ...	OMIM:615582
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Ventricular septal defect	OMIM:106260
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:616449
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part...	OMIM:270100
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Hypertension, Hypoplastic left...	OMIM:100300
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Camptodactyly, Atria...	OMIM:617602
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Death in infancy, Cyanosis, Neonatal death	OMIM:610921
Myasthenia Gravis	Raynaud phenomenon, Myositis, Acrocyanosis	ORPHA:589
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Cardiomegaly, Pericardial effusion,...	ORPHA:51608
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Kapur-Toriello Syndrome	Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ...	OMIM:244300
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect	OMIM:300514
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Camptodactyly	OMIM:300963
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Renal Agenesis	Hypertension, Ventricular septal defect	ORPHA:411709
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis	OMIM:614114
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Raynaud phenomenon, Prolong...	ORPHA:51
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Prolonged ne...	OMIM:117550
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,...	OMIM:142900
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:261344
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia	OMIM:187600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve...	OMIM:265380
Neu-Laxova Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2671
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Periventricular heterotopia	OMIM:619833
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Ventricular septal defect, Jaund...	OMIM:614866
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death	OMIM:620024
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:228308
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Camptodactyly	OMIM:617360
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:309520
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Mgat2-Cdg	Arrhythmia, Ventricular septal defect, Reflex asystolic syncope, Abnormal heart morphology	ORPHA:79329
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Pulmonic stenosis, Atrial sept...	OMIM:610759
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Lymphedema-Distichiasis Syndrome	Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio...	ORPHA:769
Myasthenic Syndrome, Congenital, 21, Presynaptic	Weakness of facial musculature, Cyanosis, Knee flexion contracture	OMIM:617239
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:261236
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot	ORPHA:261494
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Ventricular septal defect	OMIM:235255
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale	OMIM:620113
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f...	ORPHA:3138
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Pulmonary arterial hypertension, Cyanosis	OMIM:610913
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra...	ORPHA:287
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:611812
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect, Death in childhood	OMIM:600460
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Recombinant 8 Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Camptodactyly of finger	ORPHA:96167
Coffin-Lowry Syndrome	Death in early adulthood, Abnormality of neuronal migration	ORPHA:192
Miller-Dieker Syndrome	Lissencephaly	ORPHA:531
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Pulmonic ...	OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri...	OMIM:300998
Choanal Atresia	Cyanosis	ORPHA:137914
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis...	ORPHA:2092
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Limb hypertonia	OMIM:609460
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia	OMIM:223900
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h...	ORPHA:444072
Bohring-Opitz Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Camptodactyly	OMIM:605039
Lateral Meningocele Syndrome	Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve	OMIM:130720
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Macroglossia, Atrial...	ORPHA:453499
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:607721
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Macroglossia, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:214100
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla...	OMIM:259900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atr...	OMIM:235510
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Mckusick-Kaufman Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	ORPHA:2473
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Progeroid facial appearance, Prominent veins on...	ORPHA:2962
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Paten...	OMIM:616894
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve...	OMIM:190685
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati...	OMIM:617506
Alg9-Cdg	Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P...	ORPHA:79328
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Syndromic Diarrhea	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology...	ORPHA:84064
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Jaundice, Pulmonic stenosis, Tetralogy of Fallot	OMIM:222470
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
C Syndrome	Ventricular septal defect	OMIM:211750
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Death in adolescence	OMIM:619229
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Ogden Syndrome	Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr...	OMIM:300855
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia	ORPHA:1764
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ...	ORPHA:464738
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Chops Syndrome	Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return	OMIM:616368
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Cardiomyopat...	ORPHA:33364
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis	ORPHA:488632
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T...	ORPHA:261330
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618476
3Mc Syndrome 1	Atrial septal defect, Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia	OMIM:257920
Mosaic Trisomy 1	Elbow flexion contracture, Ventricular septal defect, Camptodactyly of finger, Congenital diaphra...	ORPHA:1692
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral...	ORPHA:163956
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect	OMIM:614609
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect	ORPHA:1393
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia...	ORPHA:508498
Chromosome 14Q11-Q22 Deletion Syndrome	Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Death in childhood	OMIM:618426
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Ventricular septal defect	ORPHA:79345
Phelan-Mcdermid Syndrome	Ventricular septal defect	OMIM:606232
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Phace Association	Ventricular septal defect	OMIM:606519
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Short-Rib Thoracic Dysplasia 12	Neonatal death, Ventricular septal defect, Patent foramen ovale	OMIM:269860
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Mosaic Trisomy 16	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Congenital diap...	OMIM:618454
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary window, Pulmonary arterial hypertension, Aplasia of the...	OMIM:620025
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Heart murmur	ORPHA:163979
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum	OMIM:603671
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu...	ORPHA:3474
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm...	ORPHA:466791
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microlisse...	OMIM:210710
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:268249
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Death in infancy, Bundle branch block, Ventricular septal defect, Camptoda...	ORPHA:373
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect	OMIM:263520
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Atrial septal defect...	ORPHA:96121
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Aortic valve stenosis...	ORPHA:464311
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria,...	ORPHA:468631
Aicardi Syndrome	Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle dilatation, P...	OMIM:304050
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Autosomal Recessive Robinow Syndrome	Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o...	ORPHA:1507
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Death in childhood, A...	OMIM:602535
Keutel Syndrome	Hypertension, Miscarriage, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619418
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri...	OMIM:271640
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial sep...	ORPHA:2745
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon...	OMIM:619534
Trisomy 18	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:3380
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co...	OMIM:618820
Holoprosencephaly 14	Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:619895
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Jaundice, Partial anomalous pulmonar...	OMIM:301068
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Pallister-Hall Syndrome	Neonatal death, Ventricular septal defect	OMIM:146510
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:300712
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Skeletal muscle ...	OMIM:139210
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Aortic valve stenosis, Multiple joint contractures, Ventricular septal defect	ORPHA:464306
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Macroglossia, Tricus...	ORPHA:261337
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:147791
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ...	OMIM:218040
Coffin-Siris Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology	ORPHA:1465
Trichohepatoneurodevelopmental Syndrome	Macroglossia, Distal arthrogryposis, Ventricular septal defect	OMIM:618268
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Death in infancy	ORPHA:2308
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Camptodactyly, Atrial septal defect, Joint contracture o...	OMIM:300373
Orofaciodigital Syndrome I	Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha...	OMIM:311200
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Congenital diaphragmatic hernia, Ventricular septal defect, Cutis marm...	OMIM:122470
Neu-Laxova Syndrome 1	Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Tr...	OMIM:256520
Fryns Syndrome	Ventricular septal defect, Aplasia of the left hemidiaphragm, Stillbirth, Camptodactyly, Atrial s...	OMIM:229850
Feingold Syndrome 1	Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Ventricular septal defect, Shoulder muscle hypoplasia, Atrial septal defect, At...	OMIM:274000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Macroglossia, Pul...	ORPHA:444077
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Su...	OMIM:280000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor...	ORPHA:352665
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Abno...	ORPHA:567
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt...	OMIM:309500
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Diets-Jongmans Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
Acrofacial Dysostosis 1, Nager Type	Urticaria, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:154400
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ...	OMIM:613458
Turner Syndrome Due To Structural X Chromosome Anomalies	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99413
Mosaic Monosomy X	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99228
Monosomy X	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99226
Turner Syndrome	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:881
Noonan Syndrome 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:163950
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Flexion contracture, Double outlet right ventricle, Mitr...	OMIM:300166
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly of ...	ORPHA:3047
Smith-Lemli-Opitz Syndrome	Death in infancy, Ventricular septal defect, Severe photosensitivity, Hypertension, Atrial septal...	OMIM:270400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Atrial septal defect...	ORPHA:818
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Hajdu-Cheney Syndrome	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Hydrolethalus Syndrome 1	Gray matter heterotopia, Stillbirth, Agenesis of corpus callosum, Abnormal cortical gyration	OMIM:236680
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Upper limb amyotrophy, Lower limb hyper...	OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ...	ORPHA:353281
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly	OMIM:616145
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:118450
Zttk Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Aortic regurgitation	OMIM:617140
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,...	ORPHA:3472
Diamond-Blackfan Anemia	Atrial septal defect, Ventricular septal defect, Abnormality of the thenar eminence, Abnormal hea...	ORPHA:124
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Ventricular septal defect, Mitral atresia, ...	OMIM:619503
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Patent foramen ovale	OMIM:616975
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Miscarri...	ORPHA:96334
Degcags Syndrome	Tachycardia, Ventricular septal defect, Premature graying of hair, Pulmonary arterial hypertensio...	OMIM:619488
Pagod Syndrome	Death in infancy, Abnormality of neuronal migration	ORPHA:991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly	OMIM:615287
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h...	OMIM:619475
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, A...	ORPHA:508488
Hajdu-Cheney Syndrome	Ventricular septal defect	OMIM:102500
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Cerebrocostomandibular Syndrome	Atrial septal defect, Ventricular septal defect, Elbow flexion contracture	OMIM:117650
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect, Lower-limb...	ORPHA:459070
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619525
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion contracture, Mitra...	OMIM:194050
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Flexion contracture, Mitral valve prolapse, Perimembranous ventricular...	OMIM:180849
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Ca...	OMIM:312870
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Prominent superficial blood ves...	OMIM:619472
Fontaine Progeroid Syndrome	Neonatal death, Death in infancy, Periventricular heterotopia, Gray matter heterotopia	OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ...	ORPHA:353277
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Hypermobile Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Acrocyanosis, Tendon rupture	ORPHA:285
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Mowat-Wilson Syndrome	Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morphology, Pulmonic st...	OMIM:235730
Coffin-Lowry Syndrome	Mitral regurgitation, Acrocyanosis, Cutis marmorata	OMIM:303600
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula...	OMIM:615948
Goodpasture Syndrome	Cyanosis, Pulmonary hemorrhage	OMIM:233450
Coffin-Siris Syndrome 1	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Atrial septal defect...	OMIM:135900
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	OMIM:192350
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Dysplas...	OMIM:214800
Wolf-Hirschhorn Syndrome	Atrial septal defect, Decreased muscle mass, Ventricular septal defect	OMIM:194190
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Cornelia De Lange Syndrome	Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Cutis marmorata	ORPHA:199
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, D...	OMIM:243800
Genitopatellar Syndrome	Atrial septal defect, Hip contracture, Ventricular septal defect, Knee flexion contracture	OMIM:606170
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F...	ORPHA:821
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:147920
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Elbow flexion contracture, Knee flexion con...	OMIM:268300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Peters-Plus Syndrome	Atrial septal defect, Ventricular septal defect, Diastasis recti, Pulmonic stenosis	OMIM:261540
Digeorge Syndrome	Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Ventricular septal defect	OMIM:619522
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Distal arthrogryposis, Ventricular septal de...	ORPHA:672
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo...	OMIM:216340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Flexion co...	ORPHA:261552
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Ca...	OMIM:601803
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Periventricular hetero...	ORPHA:261537
Craniofacial Microsomia 1	Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial musculature	OMIM:164210
Mowat-Wilson Syndrome	Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:2152
17P13.3 Microduplication Syndrome		ORPHA:217385

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 Ywhae

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 Ywhae.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.	Genetics in medicine : official journal of the American College of Medical Genetics (March 2023)	Ywhae^{tm1e(EUCOMM)Wtsi}	36999555
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ywhae^{tm1e(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ywhae^{tm1e(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ywhae^{tm1e(EUCOMM)Wtsi}	PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Ywhae^{tm1e(EUCOMM)Wtsi}	PMC3996542

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MGI Allele	Allele Type	Produced
Ywhae^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ywhae^{tm42598(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ywhae^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ywhae^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Ywhae^{tm42598(pL1L2_PAT_B0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ywhae^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ywhae^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ywhae^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ywhae MGI:894689

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Legacy Phenotype Associated Images

Human diseases caused by Ywhae mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data