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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 (900 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	Female infertility, Oocyte maturation arrest	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	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	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
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Spermatogenic Failure 17	Male infertility	OMIM:617214
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Lissencephaly, X-Linked, 1	Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse...	OMIM:300067
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Endometriosis, Susceptibility To, 1	Decreased fertility, Endometriosis, Dysmenorrhea	OMIM:131200
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy...	OMIM:611603
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo...	ORPHA:1209
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive heart failure	ORPHA:91130
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pol...	OMIM:604213
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Ventricular...	OMIM:253300
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ...	OMIM:612310
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, C...	ORPHA:860
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe...	OMIM:617228
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Death in infancy, Ventricular septal defect	OMIM:614876
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger	ORPHA:1937
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m...	OMIM:252011
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi...	OMIM:600348
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Ventricu...	ORPHA:1354
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Tricuspid regurgitation, Palpitations, Central cyanosis, Bicuspid aortic va...	OMIM:620067
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Cyanosis, Pulmonary arterial hypertension, Chy...	ORPHA:2414
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular...	OMIM:619167
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ...	OMIM:253700
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Perching Syndrome	Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula...	ORPHA:444013
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano...	ORPHA:555874
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Nemaline Myopathy 9	Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect	OMIM:615731
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Adams-Oliver Syndrome 4	Cutis marmorata, Atrial septal defect, Ventricular septal defect	OMIM:615297
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Cyanosis	OMIM:263000
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Death in infancy, Bradycardia	OMIM:616277
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Death in childhood, Ventricular septal defect	OMIM:613759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Asbestos Intoxication	Cor pulmonale, Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugula...	ORPHA:2302
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Interna...	ORPHA:335
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
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
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:615524
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Cyanosis, Ventricular septal defect, T...	ORPHA:3426
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Heterotaxy, Visceral, 7, Autosomal	Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv...	OMIM:616749
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid regurgitation, Muscular ventricular septal defect, Hypopla...	OMIM:212093
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Double Outlet Left Ventricle	Cyanosis, Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid ...	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
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Catel-Manzke Syndrome	Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:1388
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Cyanosis, Death in infancy, Truncus arteriosus, Ventricular septal defect, A...	OMIM:617478
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ...	OMIM:616212
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Neuralgic Amyotrophy	Acrocyanosis, Upper limb muscle weakness, Scapular winging, Upper limb amyotrophy	ORPHA:2901
Pulmonary Arteriovenous Malformation	Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,...	ORPHA:2038
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Gray matter heterotopia, Dysgyria	ORPHA:352682
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect	OMIM:616816
Buerger Disease	Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon...	ORPHA:36258
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Heart murmur, Acrocyanosis	ORPHA:1867
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cyanosis, Overriding aorta, Double outlet right ventricle, Atrial septal def...	ORPHA:3304
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Cya...	ORPHA:2326
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis	ORPHA:391428
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cyanosis, Ventricular sept...	ORPHA:99050
Lambert Syndrome	Jaundice, Ventricular septal defect	ORPHA:1296
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Abnormal hemidiaphragm morphology, Cyanosis, Dextrocardia, Hypoxemia	ORPHA:2257
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Death in childho...	OMIM:620609
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Cyanosis, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia	ORPHA:159
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp...	OMIM:613854
Subependymal Nodular Heterotopia	Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop...	ORPHA:101030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern	OMIM:616171
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect	OMIM:249270
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:261243
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Noonan Syndrome 12	Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect	OMIM:618624
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Hypogonadism, Partial atrioventricular canal defect, Ventricular septal d...	OMIM:615996
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ...	OMIM:607598
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Truncus arteriosus, Ventricular se...	OMIM:616589
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Intellectual Developmental Disorder, Autosomal Recessive 79	Oligomenorrhea, Ventricular septal defect	OMIM:620393
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Genitopalatocardiac Syndrome	Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect	OMIM:231060
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca...	OMIM:613870
Necrotizing Enterocolitis	Hypotension, Shock, Abnormal heart morphology, Cyanosis, Bradycardia	ORPHA:391673
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Palmoplantar cutis ...	OMIM:615355
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Pericardial effusio...	ORPHA:199241
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu...	ORPHA:89844
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo...	ORPHA:97214
Acquired Methemoglobinemia	Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia	ORPHA:464453
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:617622
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri...	OMIM:612561
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Waardenburg Syndrome Type 3	Acrocyanosis, Atrial septal defect, Camptodactyly of finger	ORPHA:896
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Hadziselimovic Syndrome	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect	OMIM:612946
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Acute Interstitial Pneumonia	Pericardial effusion, Hypoxemia, Hypertension, Cyanosis	ORPHA:79126
Polysyndactyly With Cardiac Malformation	Stillbirth, Atrial septal defect, Ventricular septal defect	OMIM:263630
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Heterotaxy, Visceral, 1, X-Linked	Hypoplastic left heart, Common atrium, Total anomalous pulmonary venous return, Mitral atresia, A...	OMIM:306955
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia	ORPHA:70587
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Hemimegalencephaly	Pachygyria, Gray matter heterotopia, Polymicrogyria	ORPHA:99802
Lissencephaly 5	Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia	OMIM:615191
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Breath-Holding Spells	Cyanosis	OMIM:607578
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:613751
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Aase-Smith Syndrome I	Flexion contracture, Death in infancy, Ventricular septal defect	OMIM:147800
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni...	OMIM:617205
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Skeletal muscle atrophy	ORPHA:2400
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Right Atrial Isomerism	Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at...	OMIM:208530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cutis marmorata, Ventricular septal defect	OMIM:602501
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:401935
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:1166
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Death in childhood, Death in infa...	OMIM:614643
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do...	OMIM:220210
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura	OMIM:225750
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2772
Trisomy X	Premature ovarian insufficiency, Secondary amenorrhea, Atrial septal defect, Ventricular septal d...	ORPHA:3375
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ...	ORPHA:392
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:1913
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Meckel Syndrome 14	Tricuspid regurgitation, Cyanosis, Mitral regurgitation, Single ventricle	OMIM:619879
Woods Syndrome	Ventricular septal defect	OMIM:615236
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture	ORPHA:284417
Scimitar Syndrome	Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea...	ORPHA:185
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, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Cutis marmorata, Death in childhood, Ventricular septal defect	OMIM:612938
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Jaundice, Arthrogryposis multiplex congenita, Right ...	OMIM:613404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Cardiomegaly...	ORPHA:95430
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Meacham Syndrome	Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly...	OMIM:608978
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Acrocyanosis, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Fucosidosis	Cardiomegaly, Vascular skin abnormality, Acrocyanosis, Decreased muscle mass	ORPHA:349
Serkal Syndrome	Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
High Altitude Pulmonary Edema	Tachycardia, Hypoxemia, Cyanosis	ORPHA:330012
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal...	ORPHA:1425
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Chromosome 5Q12 Deletion Syndrome	Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia	OMIM:615668
Congenital Rubella Syndrome	Jaundice, Atrial septal defect, Ventricular septal defect	ORPHA:290
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect	OMIM:616651
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Atrial flutter, Atrial septal defect, Ventricular septal defect	OMIM:601927
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:301039
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec...	OMIM:603387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Jansen-De Vries Syndrome	Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect	OMIM:617450
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Tetrasomy 5P	Congestive heart failure, Cyanosis, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the ab...	ORPHA:3309
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Jaundice...	OMIM:208085
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Ventricular septal defect	OMIM:616901
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Diastasis recti, Ventricular septal defect	ORPHA:254534
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Atrial septal defect, Ventricular septal defect	OMIM:618142
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Joubert Syndrome 18	Camptodactyly, Ventricular septal defect	OMIM:614815
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Tyshchenko Syndrome	Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615102
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu...	OMIM:617201
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia	ORPHA:370980
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	ORPHA:500159
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:615879
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte...	OMIM:617021
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect	ORPHA:452
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:210122
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Microcephaly-Capillary Malformation Syndrome	Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:614261
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Mitral valve prolapse, V...	OMIM:121050
Brachydactyly, Type B1	Camptodactyly, Joint contracture of the hand, Ventricular septal defect	OMIM:113000
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Poor wound healing, Progeroid facial appearance, Congestive heart failure, ...	OMIM:123700
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Rag...	OMIM:252010
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Intracranial hemorrhage, Acrocyanosis	ORPHA:49566
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Acrocyanosis	ORPHA:2032
Warsaw Breakage Syndrome	Tetralogy of Fallot, Cutis marmorata, Ventricular septal defect	OMIM:613398
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:899
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Chiari Malformation Type Ii	Limb muscle weakness, Cyanosis	OMIM:207950
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Unilateral Polymicrogyria	Abnormal heart morphology, Epistaxis, Cyanosis	ORPHA:268943
Burn-Mckeown Syndrome	Hypomimic face, Atrial septal defect, Ventricular septal defect	OMIM:608572
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect	OMIM:619909
Eosinophilic Fasciitis	Myositis, Muscular edema, Acrocyanosis	ORPHA:3165
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se...	ORPHA:369891
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, S...	OMIM:618870
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Cyanosis, Death in infancy, Neonatal death	OMIM:265120
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simplified gyr...	OMIM:615219
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Cutis marmorata, Intermittent claudication, Raynaud phenomeno...	ORPHA:416
Noonan Syndrome 4	Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal de...	OMIM:610733
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri...	OMIM:616564
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Ventricular septal defect	OMIM:613680
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve...	OMIM:600987
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:98914
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep...	ORPHA:1727
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Braddock-Carey Syndrome 1	Camptodactyly, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618494
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect	OMIM:616897
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea	OMIM:110100
Transaldolase Deficiency	Telangiectasia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:606003
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Cyanosis, Prolonged QT interval, Atrial fibrillatio...	ORPHA:31826
Ogden Syndrome	Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect	ORPHA:276432
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Costello Syndrome	Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal...	ORPHA:3071
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	ORPHA:329224
Congenital Muscular Dystrophy With Cerebellar Involvement	Type II lissencephaly, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:370959
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect	ORPHA:1488
Suleiman-El-Hattab Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618950
Pelger-Huet Anomaly	Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect	OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect	OMIM:617751
Heterotaxy, Visceral, 12, Autosomal	Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ...	OMIM:619702
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis	OMIM:620423
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal...	OMIM:601186
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,...	ORPHA:740
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ...	OMIM:619657
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect	OMIM:619995
Kagami-Ogata Syndrome	Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect...	OMIM:608149
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Prune Belly Syndrome	Tetralogy of Fallot, Aplasia of the abdominal wall musculature, Atrial septal defect, Ventricular...	ORPHA:2970
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Prolonged G2 phase of cell cycle, Bruising susceptibility	OMIM:600901
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ...	ORPHA:254346
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect	OMIM:619123
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Diabetic Embryopathy	Tetralogy of Fallot, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition of the g...	ORPHA:1926
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Methimazole Embryofetopathy	Ventricular septal defect	ORPHA:1923
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Oxygen desaturation on exertion, Hypoxemia, Atrial septal defect, Ventricular septal defect	OMIM:610978
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Sepsis In Premature Infants	Hypotension, Petechiae, Cyanosis, Jaundice, Bradycardia, Tachycardia, Purpura	ORPHA:90051
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect	OMIM:614961
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept...	OMIM:612582
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:35107
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Emanuel Syndrome	Aortic valve stenosis, Congenital diaphragmatic hernia, Truncus arteriosus, Ventricular septal de...	OMIM:609029
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Increased pulmonary vascula...	ORPHA:60025
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect	ORPHA:2519
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Prolonged G2 phase of cell cycle, Bruising susceptibility	OMIM:227650
Alg9-Cdg	Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Ventricular se...	ORPHA:79328
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect	OMIM:619769
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:617452
Acrocardiofacial Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Death in infancy, Truncus arterios...	ORPHA:2008
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Polymic...	OMIM:619775
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle, Flexion contracture, Bruising susceptibility, Ventricular septa...	OMIM:227645
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Ventricular septal defect	ORPHA:494344
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Poems Syndrome	Pericardial effusion, Pulmonary arterial hypertension, Acrocyanosis, Plethora	ORPHA:2905
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contra...	OMIM:614653
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec...	ORPHA:435638
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Death in infancy, Ventricular septal defect	OMIM:614576
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Noonan Syndrome 3	Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d...	OMIM:609942
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Limb joint contracture, Atrial septal defect, Ventricular septal defect	ORPHA:505237
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Death in infancy	ORPHA:2481
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Cyanosis	OMIM:619580
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Atrial septal defect, Patent foramen ovale, Ventricular sept...	OMIM:270450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t...	ORPHA:457279
Tarp Syndrome	Tetralogy of Fallot, Cyanosis, Atrial septal defect	ORPHA:2886
Char Syndrome	Ventricular septal defect	ORPHA:46627
Esophageal Atresia	Tetralogy of Fallot, Cyanosis, Ventricular septal defect	ORPHA:1199
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Double outlet right ventricle, Abnormal left ventricular function, Art...	OMIM:301056
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I...	ORPHA:48435
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Dermatomyositis	Vasculitis, Erythema, Shawl sign, Sinus tachycardia, V-sign, Inflammatory myopathy, EMG: myopathi...	ORPHA:221
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Atrial septal defect, Subcutaneous lipoma, Ventricular septal defect	OMIM:613001
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
ERI1-related disease	Tricuspid regurgitation, Pulmonary arterial hypertension, Abnormal heart morphology, Ventricular ...	OMIM:608739
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Death in childhood, Congenital diaphragmatic hernia, Neonatal death, Hyp...	OMIM:614437
Congenital Tracheal Stenosis	Hypoplastic left heart, Cyanosis, Ventricular septal defect	ORPHA:141127
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Death in childhood, Death in infancy, Ventricular septal defect	OMIM:243150
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Ven...	ORPHA:354
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect	ORPHA:1908
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:620511
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Polymicrogyria, Pachygyria, Agenesis of corpus callosum	ORPHA:157
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Alagille Syndrome	Telangiectasia of the skin, Hypertension, Atrial septal defect, Ventricular septal defect	ORPHA:52
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:220500
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Knee flexion contracture, Ventricular septal defect	OMIM:620454
Fanconi Anemia, Complementation Group I	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:609053
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Heart murmur, Ventricular septal defect	ORPHA:166035
Emanuel Syndrome	Aortic valve stenosis, Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arte...	ORPHA:96170
Heart And Brain Malformation Syndrome	Limb hypertonia, Camptodactyly of finger, Ventricular septal defect	OMIM:616920
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Decreased fertility, Atrial situs inversus, Ventri...	OMIM:615067
Zellweger Syndrome	Jaundice, Death in infancy, Ventricular septal defect	ORPHA:912
Diamond-Blackfan Anemia 7	Tetralogy of Fallot, Small hypothenar eminence, Secundum atrial septal defect, Ventricular septal...	OMIM:612562
Trisomy 13	Atrial septal defect, Ventricular septal defect	ORPHA:3378
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1335
Phaver Syndrome	Camptodactyly of finger, Ventricular septal defect	ORPHA:2876
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Ventricular septal defect	OMIM:617061
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect	OMIM:616652
Chromosome 9P Deletion Syndrome	Heart murmur, Perimembranous ventricular septal defect, Atrial septal defect, Ventricular septal ...	OMIM:158170
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria, Death in infancy, Agenesis of corpus callosum	OMIM:608836
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular...	OMIM:115470
Loeys-Dietz Syndrome 5	Bruising susceptibility, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventr...	OMIM:615582
Seckel Syndrome 9	Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect	OMIM:616777
Carpenter Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t...	OMIM:201000
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect	ORPHA:261250
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t...	OMIM:602782
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Cyanosis, Death in infancy, Neonatal death	OMIM:610921
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect	OMIM:616449
Congenital Heart Defects And Skeletal Malformations Syndrome	Cutis marmorata, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect...	OMIM:617602
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases...	OMIM:600376
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Cutis marmorata, Ventricular ...	OMIM:100300
Aromatase Deficiency	Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea	ORPHA:91
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Myocar...	ORPHA:51608
Myasthenia Gravis	Myositis, Acrocyanosis, Raynaud phenomenon	ORPHA:589
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr...	OMIM:605275
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect	OMIM:300514
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Kapur-Toriello Syndrome	Joint contracture of the hand, Atrial septal defect, Camptodactyly of finger, Ventricular septal ...	OMIM:244300
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy of Fallot, Aplasia of th...	OMIM:600001
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614114
Ritscher-Schinzel Syndrome 2	Camptodactyly, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	OMIM:300963
Renal Agenesis	Hypertension, Ventricular septal defect	ORPHA:411709
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Neonatal death	OMIM:187600
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Cutis marmorata, Multiple joint contractures, Cardiomegaly, Myositis...	ORPHA:51
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Sotos Syndrome	Muscular ventricular septal defect, Prolonged neonatal jaundice, Atrial septal defect, Ventricula...	OMIM:117550
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Ventricular septal defect	OMIM:619103
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu...	OMIM:178110
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect	ORPHA:96129
Trisomy 1Q	Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect	ORPHA:261344
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	OMIM:617159
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Periventricular heterotopia	OMIM:619833
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Pseudotrisomy 13 Syndrome	Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca...	OMIM:264480
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect	ORPHA:96097
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove...	OMIM:265380
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Death in infancy, Ventricula...	OMIM:614866
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Polymicrogyria, Pachygyria, Agenesis of corpus callosum	ORPHA:228308
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car...	OMIM:614294
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Atrial septal defect, Ventricular septal defect	OMIM:620024
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Camptodactyly, Atrial septal defect, Ventricular septal defect	OMIM:617360
Mgat2-Cdg	Abnormal heart morphology, Arrhythmia, Reflex asystolic syncope, Ventricular septal defect	ORPHA:79329
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Donnai-Barrow Syndrome	Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:222448
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:309520
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Thakker-Donnai Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri...	ORPHA:1780
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cutis marmorata, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonic...	OMIM:610759
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:612530
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa...	OMIM:620663
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Pulmonary arterial hypertension, Cyanosis	OMIM:610913
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Arrhythmia, Ventricular septal defect	OMIM:153400
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	OMIM:277600
Rabson-Mendenhall Syndrome	Cardiomyopathy, Premature graying of hair, Reduced subcutaneous adipose tissue, Ventricular septa...	ORPHA:769
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Knee flexion contracture, Weakness of facial musculature	OMIM:617239
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
X Small Rings	Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2671
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia	ORPHA:261494
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Agenesis of corpus callosum	ORPHA:261236
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Ventricular septal defect	OMIM:235255
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d...	ORPHA:209905
Joubert Syndrome	Abnormality of neuronal migration, Polymicrogyria	ORPHA:475
Fanconi Anemia, Complementation Group D2	Abnormal heart morphology, Prolonged G2 phase of cell cycle, Bruising susceptibility	OMIM:227646
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic...	ORPHA:572333
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Mosaic Trisomy 9	Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular...	ORPHA:99776
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, Ventricular septal defect	OMIM:620113
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d...	ORPHA:3138
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Arterial rupture, Mitral regurgitation, Mitral valve...	ORPHA:287
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra...	ORPHA:75857
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Acrocyanosis, Hypertension, Orthostatic hypotension	OMIM:223900
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:613309
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Choanal Atresia	Cyanosis	ORPHA:137914
Miller-Dieker Syndrome	Lissencephaly	ORPHA:531
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Atrial se...	OMIM:610443
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:611812
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Atrial septal defect, Ventri...	OMIM:300998
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Death in early adulthood	ORPHA:192
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Death in childhood, Ventricular septal defect	OMIM:600460
Recombinant 8 Syndrome	Tetralogy of Fallot, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:96167
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h...	ORPHA:444072
Focal Dermal Hypoplasia	Erythema, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular ...	ORPHA:2092
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Limb hypertonia, Ventricular septal defect	OMIM:609460
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Leigh Syndrome	Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co...	ORPHA:506
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetralogy of Fallot, Hypoplasi...	ORPHA:2255
Lateral Meningocele Syndrome	Bicuspid aortic valve, Decreased muscle mass, Ventricular septal defect	OMIM:130720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor...	ORPHA:453499
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Decreased muscle mass, Excessive wrinkled ...	ORPHA:2962
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	ORPHA:2473
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly, Atrial septal defect, Pe...	OMIM:235510
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Fanconi Anemia, Complementation Group N	Atrial septal defect, Ventricular septal defect	OMIM:610832
Peroxisome Biogenesis Disorder 1A (Zellweger)	Prolonged neonatal jaundice, Macroglossia, Death in childhood, Ventricular septal defect	OMIM:214100
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect	OMIM:620654
Familial Dysautonomia	Tachycardia, Acrocyanosis, Hypertension, Orthostatic hypotension	ORPHA:1764
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Hypoplas...	OMIM:616894
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect	OMIM:618748
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Ogden Syndrome	Secundum atrial septal defect, Facial wrinkling, Torsade de pointes, Premature atrial contraction...	OMIM:300855
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Cutis marmorata, Intermittent claudication, Raynaud p...	OMIM:259900
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul...	ORPHA:289
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Contracture of the proximal interphalangea...	ORPHA:464738
Syndromic Diarrhea	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:84064
Chops Syndrome	Patent foramen ovale, Anomalous pulmonary venous return, Ventricular septal defect	OMIM:616368
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,...	OMIM:608328
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Jaundice, Pulmonic stenosis	OMIM:222470
C Syndrome	Ventricular septal defect	OMIM:211750
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Down Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular se...	ORPHA:870
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Teebi-Shaltout Syndrome	Aortic valve stenosis, Camptodactyly, Ventricular septal defect	OMIM:272950
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Prematurely aged appearan...	ORPHA:33364
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Atr...	ORPHA:261330
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Diastasis recti, Ventricular septal defect, Macroglossia, Pulmonic stenosis	ORPHA:488632
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
X-Linked Intellectual Disability, Nascimento Type	Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricular septal defect, Pulmonary ...	ORPHA:163956
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small thenar eminence, Fa...	OMIM:607323
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618476
Mosaic Trisomy 1	Elbow flexion contracture, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular ...	ORPHA:1692
Coffin-Siris Syndrome 4	Mitral atresia, Ventricular septal defect, Atrial septal defect, Macroglossia, Pulmonic stenosis	OMIM:614609
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2461
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:617063
Shwachman-Diamond Syndrome 1	Myocardial necrosis	OMIM:260400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Ventricular septal defect	OMIM:106260
Viss Syndrome	Coronary sinus enlargement, Bruising susceptibility, Right ventricular hypertrophy, Mitral valve ...	OMIM:619472
3Mc Syndrome 1	Conjunctival telangiectasia, Diastasis recti, Atrial septal defect, Ventricular septal defect	OMIM:257920
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven...	ORPHA:508498
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect	ORPHA:1393
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Ventricular septal defect	ORPHA:79345
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Death in infancy	OMIM:618426
Chromosome 14Q11-Q22 Deletion Syndrome	Macroglossia, Patent foramen ovale, Ventricular septal defect	OMIM:613457
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi...	OMIM:618164
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Congenital diaphragmatic hernia, Patent foramen ovale, Ventricul...	OMIM:618454
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Phace Association	Ventricular septal defect	OMIM:606519
Codas Syndrome	Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect	OMIM:600373
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Short-Rib Thoracic Dysplasia 12	Neonatal death, Patent foramen ovale, Ventricular septal defect	OMIM:269860
Mosaic Trisomy 16	Abnormal heart morphology, Atrial septal defect, Ventricular septal defect	ORPHA:1708
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve...	OMIM:142900
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Heart murmur, Intracranial hemorrhage, Atrial septal defect, Ventricular septal defect	ORPHA:163979
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary window, Pulmonary arterial hypertension, Aplasia of the...	OMIM:620025
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Death in ch...	OMIM:210710
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Congenital diaphragmatic hernia, De...	ORPHA:373
Chime Syndrome	Erythema, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transposition ...	ORPHA:3474
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:263520
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencepha...	ORPHA:468631
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:268249
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Keutel Syndrome	Hypertension, Miscarriage, Pulmonic stenosis, Ventricular septal defect	OMIM:245150
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventricular septal defect...	ORPHA:464311
Marshall-Smith Syndrome	Death in childhood, Ventricular septal defect, Premature ventricular contraction, Pulmonary arter...	OMIM:602535
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita...	ORPHA:391665
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Cutis marmorata, Congenital diaphragmatic hernia, Ventricular septal defec...	ORPHA:96121
Aicardi Syndrome	Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Partial agenesis of the corpus callosum...	OMIM:304050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr...	OMIM:143095
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricu...	ORPHA:1507
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Pachygyria	OMIM:251300
Opitz Gbbb Syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular sep...	ORPHA:2745
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Fragile skin, Atrial sept...	OMIM:271640
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Double outlet right ventricle, Patent foramen ovale, Ventricular septal d...	OMIM:301043
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia...	OMIM:619534
Mosaic Trisomy 20	Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect	ORPHA:1724
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Camptodactyly, Atr...	OMIM:139210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Prolonged neonatal jaundice, Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte...	OMIM:618820
Trisomy 18	Congenital diaphragmatic hernia, Atrial septal defect, Camptodactyly of finger, Ventricular septa...	ORPHA:3380
Holoprosencephaly 14	Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:619895
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of toe...	ORPHA:261337
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363958
Robinow Syndrome	Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, Atrial septal defe...	ORPHA:97360
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect	OMIM:301030
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:300712
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Arrhythmia, Atrial septal defect, Ventricular septal defect	ORPHA:1519
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Multiple joint contractures, Ventricular septal defect	ORPHA:464306
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Macroglossia, Ventricular septal defect	ORPHA:96191
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration, Hypothalamic hamartoma, Agenesis of corpus c...	OMIM:311200
Hardikar Syndrome	Portal hypertension, Patent foramen ovale, Ventricular septal defect, Prolonged neonatal jaundice...	OMIM:301068
Jacobsen Syndrome	Flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:147791
Hypermobile Ehlers-Danlos Syndrome	Epistaxis, Bruising susceptibility, Mitral valve prolapse, Arrhythmia, Aplasia/Hypoplasia of the ...	ORPHA:285
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial...	OMIM:218040
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus...	OMIM:157800
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	ORPHA:1465
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Death in infancy, Ventricular septal defect	ORPHA:2308
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Camptodactyly, Fa...	OMIM:300373
Pallister-Hall Syndrome	Neonatal death, Ventricular septal defect	OMIM:146510
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def...	ORPHA:444077
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Contracture of the...	OMIM:280000
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Patent for...	OMIM:256520
Fryns Syndrome	Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Stillbirth, Campt...	OMIM:229850
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect	OMIM:620558
Diamond-Blackfan Anemia 1	Congestive heart failure, Ventricular septal defect, Atrial septal defect, Small thenar eminence,...	OMIM:105650
Feingold Syndrome 1	Tricuspid stenosis, Tricuspid atresia, Ventricular septal defect	OMIM:164280
Renpenning Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Death in childhood, V...	OMIM:309500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber ...	ORPHA:453504
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber ...	ORPHA:352665
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ...	ORPHA:98889
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Death in infancy, Ventricular septal defect, ...	OMIM:274000
Limb Body Wall Complex	Abnormal heart morphology, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal d...	ORPHA:2369
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Camptodact...	ORPHA:500095
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:881
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmonary valve m...	ORPHA:567
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Ventricular septal defect	OMIM:620568
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619268
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Urticaria, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:154400
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:618846
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi...	OMIM:300166
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi...	ORPHA:2729
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Chromosome 16P13.3 Duplication Syndrome	Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Atrial septal defect, Small the...	OMIM:613458
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Williams Syndrome	Death in early adulthood, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect,...	ORPHA:904
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Atrial septal defect, Camptodactyly of finger, Ventricular septal ...	ORPHA:3047
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Abnormal pulmonary valve ...	ORPHA:268261
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect, Severe photosensitivity...	OMIM:270400
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Noonan Syndrome 1	Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal de...	OMIM:163950
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum, Stillbirth	OMIM:236680
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep...	ORPHA:353281
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Holoprosencephaly	Abnormality of neuronal migration	ORPHA:2162
Catel-Manzke Syndrome	Camptodactyly, Overriding aorta, Dextrocardia, Ventricular septal defect	OMIM:616145
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Erythema, Mitral atresia, Muscular ventricular septal defect, Elbow flexi...	OMIM:619503
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Zttk Syndrome	Aortic regurgitation, Flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:617140
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Alagille Syndrome 1	Tetralogy of Fallot, Prolonged neonatal jaundice, Atrial septal defect, Ventricular septal defect	OMIM:118450
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ...	ORPHA:3472
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum	OMIM:603671
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her...	OMIM:301044
Diamond-Blackfan Anemia	Abnormal heart morphology, Abnormality of the thenar eminence, Atrial septal defect, Ventricular ...	ORPHA:124
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Diastasis recti, Ventri...	ORPHA:96334
Pagod Syndrome	Abnormality of neuronal migration, Death in infancy	ORPHA:991
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect	OMIM:613884
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, Cardiomega...	OMIM:619991
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Complete a...	ORPHA:508488
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Cerebrocostomandibular Syndrome	Elbow flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:117650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:615287
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent foramen ovale, Ventr...	OMIM:607872
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lower-limb joint contracture, Dilatation of the ventricular cavity, Atrial septal defect, Ventric...	ORPHA:459070
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Prolonged neonatal jaundice, Ventricular septal defect	OMIM:619525
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:438213
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati...	OMIM:312870
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia, Death in infancy, Neonatal death	OMIM:612289
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Coronary artery stenosis, Premature graying of hair, Portal...	OMIM:194050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ...	ORPHA:353277
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis, Mitral regurgitation	OMIM:303600
Femoral-Facial Syndrome	Truncus arteriosus, Camptodactyly of finger, Pulmonic stenosis, Ventricular septal defect	OMIM:134780
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Vater/Vacterl Association	Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect	OMIM:192350
Mowat-Wilson Syndrome	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Ge...	OMIM:235730
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia, P...	OMIM:615948
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Goodpasture Syndrome	Pulmonary hemorrhage, Cyanosis	OMIM:233450
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Partial atrioventricular canal defect, Patent foramen ovale, Ventricul...	OMIM:616462
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Charge Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Dysplastic tricusp...	OMIM:214800
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Portal hypertension, Situs inversus totalis, Death in childhood, Ventricu...	OMIM:243800
Genitopatellar Syndrome	Knee flexion contracture, Atrial septal defect, Hip contracture, Ventricular septal defect	OMIM:606170
Sotos Syndrome	Ankle flexion contracture, Abnormal heart morphology, Hip contracture, Ventricular septal defect,...	ORPHA:821
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa...	OMIM:268300
Townes-Brocks Syndrome 1	Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	OMIM:107480
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Periventricular heterotopia, Lateral ventricle dilatation, Agenesis of corpus cal...	ORPHA:261537
Craniofacial Microsomia 1	Tetralogy of Fallot, Hypoplasia of facial musculature, Ventricular septal defect	OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Periventricular heterotopia, Lateral ventricle dilatation, Agenesis of corpus cal...	ORPHA:261552
Mowat-Wilson Syndrome	Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum	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 21.1 Data