Gene Summary

Name:
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
Synonyms:
14-3-3 epsilon

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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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

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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.

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 Similarity of
phenotypes
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
Female infertility, Oocyte arrest at metaphase I OMIM:616780
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
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... 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
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ... OMIM:300067
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... 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
Female infertility, Amenorrhea, Oligomenorrhea OMIM:617442
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
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
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... ORPHA:1209
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Chudley-Mccullough Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Pol... OMIM:604213
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Isolated Right Ventricular Hypoplasia
Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu... ORPHA:439
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... OMIM:612310
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral ... ORPHA:860
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Death in infancy OMIM:614876
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... OMIM:252011
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalv... ORPHA:1461
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of ... OMIM:600348
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Atrial septal defe... ORPHA:1354
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Aortic regurgitat... OMIM:607941
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia... OMIM:620067
Atrioventricular septal defect 3
Cyanosis, Atrioventricular canal defect, Pulmonary arterial hypertension, Inlet ventricular septa... OMIM:600309
Complete Atrioventricular Septal Defect
Cyanosis, Systolic heart murmur, Displacement of the papillary muscles, Abnormal P wave, Third he... ORPHA:1329
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Amb... ORPHA:216694
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Torticollis, Ventricular septal defect, Atrial septal defect OMIM:249670
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonary arterial hypertension, Chylopericardium, Congestive heart failure, Pulmonic s... ORPHA:2414
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Aortic Arch Interruption
Cyanosis, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary windo... ORPHA:2299
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third he... ORPHA:99106
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... ORPHA:444013
Perching Syndrome
Cyanosis, Joint contracture, Camptodactyly OMIM:617055
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnorm... ORPHA:555874
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, U... ORPHA:99104
Adams-Oliver Syndrome 4
Cutis marmorata, Ventricular septal defect, Atrial septal defect OMIM:615297
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616276
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect, Death in infancy OMIM:616277
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function,... ORPHA:99103
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect OMIM:613759
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Left ventricular hypertrophy, Bruising susceptibility, Interna... ORPHA:335
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hypotension, Pericardial effusion, T-wave inversion, ST segment depression, Macroglossi... OMIM:261740
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Double Outlet Right Ventricle
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart mur... ORPHA:3426
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, Ventricular septal defect, Atrial septal defect OMIM:615996
Asbestos Intoxication
Cyanosis, Hypoxemia, Myocardial fibrosis, Oxygen desaturation on exertion, Right ventricular fail... ORPHA:2302
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Death in infancy,... OMIM:617478
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Arrhythmia OMIM:617021
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria ORPHA:2512
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... OMIM:616749
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... OMIM:616212
Cardiac Valvular Dysplasia 1
Cyanosis, Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral st... OMIM:212093
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps we... ORPHA:98913
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Pulmonary Arteriovenous Malformation
Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Bacterial endocarditis, Telangie... ORPHA:2038
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Absence Of The Pulmonary Artery
Cyanosis, Patent foramen ovale, Hypocapnia, Systolic heart murmur, Pulmonary arterial hypertensio... ORPHA:980
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology, Heart murmur ORPHA:1867
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Overriding ao... ORPHA:3304
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... OMIM:615616
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyo... ORPHA:2326
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect, Death in infancy OMIM:613730
Lambert Syndrome
Jaundice, Ventricular septal defect ORPHA:1296
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Pulmonary arterial hypertension, Left ventricular outflow tract obstruction, Aortopulmo... ORPHA:99050
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Abnormality of neuronal migrati... ORPHA:101030
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy OMIM:249270
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Ventricular septal def... OMIM:613854
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Arrhythmia, Cardiomyopathy ORPHA:159
Hsd10 Disease, Infantile Type
Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:616171
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... OMIM:607598
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:261243
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Primary Pulmonary Hypoplasia
Cyanosis, Secundum atrial septal defect, Hypoxemia, Dextrocardia, Abnormal hemidiaphragm morphology ORPHA:2257
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus, Cutis marmorata, Portal hypertension, Tricuspid re... OMIM:616589
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Ventricular septal defect, Interphalangeal thumb joint contracture, Hyperten... OMIM:613870
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Vasculitis, Purpura, Ac... ORPHA:183
Noonan Syndrome 8
Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal d... OMIM:615355
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... ORPHA:261529
Apnea, Central Sleep
Cyanosis OMIM:207720
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microlis... ORPHA:89844
Eisenmenger Syndrome
Cyanosis, Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supravent... ORPHA:97214
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Histiocytoid Cardiomyopathy
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wol... ORPHA:137675
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Acquired Methemoglobinemia
Cyanosis, Syncope, Hypoxemia, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Polysyndactyly With Cardiac Malformation
Stillbirth, Ventricular septal defect, Atrial septal defect OMIM:263630
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect OMIM:612946
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Li-Campeau Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... ORPHA:99094
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Atrial septal defect OMIM:618330
Pulmonary Capillary Hemangiomatosis
Cyanosis, Elevated pulmonary artery pressure, Hemothorax, Pericardial effusion, Hypoxemia, Diffus... ORPHA:199241
Waardenburg Syndrome Type 3
Camptodactyly of finger, Acrocyanosis, Atrial septal defect ORPHA:896
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Acute Interstitial Pneumonia
Pericardial effusion, Cyanosis, Hypoxemia, Hypertension ORPHA:79126
Lissencephaly 5
Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia OMIM:615191
Breath-Holding Spells
Cyanosis OMIM:607578
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypotension, Cardiac arrest, Hypoxemia, Bradycardia, Tachycardia ORPHA:70587
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... OMIM:306955
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... OMIM:208530
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... OMIM:613751
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Death in infancy OMIM:147800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Ventricular septal defect OMIM:602501
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pul... ORPHA:3384
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1166
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Colpocephaly OMIM:615219
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Ventricular septal defect, Joint contracture of the hand, Camptoda... OMIM:179613
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618974
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:401935
Holt-Oram Syndrome
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... ORPHA:392
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Death in infancy, Agyria, Lissencephaly, Type I... OMIM:614643
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... OMIM:615474
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Death in infancy, Jaundice, Arthrogryposis multiplex congenita, Right ... OMIM:613404
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... ORPHA:26793
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Woods Syndrome
Ventricular septal defect OMIM:615236
Aicardi-Goutieres Syndrome 1
Petechiae, Vasculitis, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Cardiomyopathy OMIM:225750
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Right ventricular dilatation, Tricus... OMIM:619705
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Death in childhood, Ventricular septal defect, Cutis marmorata OMIM:612938
Meacham Syndrome
Neonatal death, Death in childhood, Ventricular septal defect, Cardiac total anomalous pulmonary ... OMIM:608978
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Meckel Syndrome 14
Cyanosis, Single ventricle, Mitral regurgitation, Tricuspid regurgitation OMIM:619879
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Scimitar Syndrome
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Truncus arteriosu... ORPHA:185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Knee flexion contracture, Cyanotic episode, Limb joint contracture, Ankle flexion contracture ORPHA:284417
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:600901
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Ventricular septal defect, Persistent f... ORPHA:363705
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Congenital Tracheomalacia
Cyanosis, Pulmonary arterial hypertension, Ventricular septal defect, Single ventricle, Atrial se... ORPHA:95430
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Congenital Rubella Syndrome
Jaundice, Ventricular septal defect, Atrial septal defect ORPHA:290
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:614261
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Death in infancy, Jaundice, Arthrogryposis multi... OMIM:208085
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventricular septal defect, Type... OMIM:619542
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Acrocyanosis, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:227650
Fucosidosis
Vascular skin abnormality, Cardiomegaly, Decreased muscle mass, Acrocyanosis ORPHA:349
Acalvaria
Abnormality of neuronal migration ORPHA:945
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Total anomalous pulmo... ORPHA:261183
Filippi Syndrome
Ventricular septal defect OMIM:272440
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Atrial septal defect, Mitral regurgitation, ... OMIM:603387
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Supracardiac total anomalous pulmonary venous connection, Tricuspid regurgitation, Doub... ORPHA:99125
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Atrial septal defect OMIM:601927
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Ventricular septal defect, Death in infancy OMIM:616901
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Flexion contracture, Ventricular septal defect, Bruising suscep... OMIM:227645
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Ventricular septal defect, Atrial septal defect OMIM:618067
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:899
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Tyshchenko Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615102
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... ORPHA:369929
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:3309
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Diastasis recti, Ventricular septal defect ORPHA:254534
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect OMIM:618142
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Mitral regurgitation, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:301039
Chromosome 1P36 Deletion Syndrome, Proximal
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ... OMIM:619343
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death... ORPHA:7
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Brachydactyly, Type B1
Camptodactyly, Ventricular septal defect, Joint contracture of the hand OMIM:113000
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Ventricular septal defect, Elbow contracture, Contracture of the proxim... OMIM:617201
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation OMIM:110100
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Congestive heart failure, Aortic regurgitation, Progeroid facial appea... OMIM:123700
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Ventricu... ORPHA:210122
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Death in infancy ORPHA:452
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation OMIM:615879
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:500159
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... OMIM:121050
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis, Intracranial hemorrhage, Internal hemorrhage, Shock ORPHA:49566
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Ritscher-Schinzel Syndrome 2
Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:300963
Burn-Mckeown Syndrome
Hypomimic face, Ventricular septal defect, Atrial septal defect OMIM:608572
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Warsaw Breakage Syndrome
Cutis marmorata, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Concentric hypertrophic cardiomyopathy, Death in infancy, Increased intramyocellular li... OMIM:252010
Noonan Syndrome 4
Ventricular septal defect, Bruising susceptibility, Atrial septal defect, Hypertrophic cardiomyop... OMIM:610733
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria ORPHA:255138
Noonan Syndrome 10
Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ... OMIM:616564
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis ORPHA:3165
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Neonatal death, Pulmonary arterial hypertension, Death in infancy OMIM:265120
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Ventricular septal defect, Endometriosis OMIM:613680
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Parachute mitral ... OMIM:618316
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Abnormal heart morphology ORPHA:268943
Braddock-Carey Syndrome 1
Aortic valve prolapse, Camptodactyly, Ventricular septal defect OMIM:619980
Primary Hyperoxaluria
Arterial occlusion, Intermittent claudication, Acrocyanosis, Cutis marmorata, Raynaud phenomenon,... ORPHA:416
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... ORPHA:369891
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Distal... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Distal... ORPHA:98914
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Scapular winging, Tricuspi... OMIM:618870
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:35107
Transaldolase Deficiency
Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial septal defect OMIM:606003
Ethylene Glycol Poisoning
Cyanosis, Hypotension, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, Tach... ORPHA:31826
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Costello Syndrome
Thickened Achilles tendon, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Hypert... ORPHA:3071
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture, Intermittent claudication ORPHA:98028
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:1488
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ... OMIM:619702
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect OMIM:616897
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia OMIM:169400
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect OMIM:618494
Ogden Syndrome
Cardiogenic shock, Torticollis, Ventricular septal defect, Arrhythmia ORPHA:276432
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:618950
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:619657
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... OMIM:600987
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Diastasis recti, Flexion contracture, Ventricular septal defect,... OMIM:608149
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Prune Belly Syndrome
Tetralogy of Fallot, Aplasia of the abdominal wall musculature, Atrial septal defect, Ventricular... ORPHA:2970
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy ORPHA:1493
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Transposition of the g... ORPHA:1926
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Atrial septal defect ORPHA:329224
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Type II lissencephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:370959
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Ventricular hypertrophy, Left ventricular diastolic dysfunction, Angina pectoris, Aorti... ORPHA:740
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Noonan Syndrome 2
Atrioventricular canal defect, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosi... OMIM:605275
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:75389
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia OMIM:619995
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Camptodactyly, Ventricular septal defect OMIM:619123
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep... ORPHA:1727
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Mitral regurgitation, Arrh... ORPHA:254346
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Gastrointestinal hemorrhage, Urticaria, Vasculitis ORPHA:343
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Right bundle branch block, Abnor... ORPHA:70591
Visceral Steatosis, Congenital
Jaundice, Neonatal death, Myocardial steatosis OMIM:228100
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:614961
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Ventricular septal defect,... OMIM:614921
Sepsis In Premature Infants
Cyanosis, Hypotension, Petechiae, Jaundice, Purpura, Bradycardia, Tachycardia ORPHA:90051
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect ORPHA:2519
Meacham Syndrome
Conotruncal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Cong... ORPHA:3097
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:227646
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Congenital diap... OMIM:609029
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial septal defect, Tetralogy ... OMIM:612582
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Dermatomyositis
Pulmonary arterial hypertension, Cutaneous photosensitivity, Sinus tachycardia, Acrocyanosis, Per... ORPHA:221
Acrocardiofacial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Death in infancy, Mitral ... ORPHA:2008
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect OMIM:619769
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Dravet Syndrome
Cyanotic episode ORPHA:33069
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Hypoxemia, Ventricular septal defect, Atrial septal defect OMIM:610978
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Ventricular septal defect, Atrial septal defect OMIM:617452
Transketolase Deficiency
Patent foramen ovale, Ventricular septal defect, Secondary amenorrhea, Atrial septal defect, Abno... ORPHA:488618
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Atrial septal defect, Death in infancy OMIM:614576
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma, Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymic... OMIM:619775
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Ventricular septal defect ORPHA:494344
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventration, Hypoplastic left atrium... OMIM:601186
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Death in infancy ORPHA:2481
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect OMIM:611134
Pulmonary Alveolar Microlithiasis
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Increased pulmonary vascular resistance, Ri... ORPHA:60025
Codas Syndrome
Ventricular septal defect ORPHA:1458
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Ventricular septal defect, Atrial septal defect, Skeletal muscle atroph... ORPHA:435638
Noonan Syndrome 3
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Bru... OMIM:609942
Tarp Syndrome
Cyanosis, Tetralogy of Fallot, Atrial septal defect ORPHA:2886
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Facial palsy OMIM:147770
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Flexion contracture, Ventricular septal defect, Hypertension, Erythema, Brady... OMIM:614653
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Calf muscle hypertrophy OMIM:615673
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Atrial septal defect ORPHA:505237
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Reduced subcutaneous adipose tissue, Ventricular septal defect, Atrial sept... OMIM:270450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... ORPHA:457279
Poems Syndrome
Pericardial effusion, Acrocyanosis, Pulmonary arterial hypertension ORPHA:2905
Char Syndrome
Ventricular septal defect ORPHA:46627
Joubert Syndrome 14
Hypertension, Intracranial hemorrhage, Ventricular septal defect OMIM:614424
Kapur-Toriello Syndrome