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.

Select physiological systems to view:
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

View all 133 images

View all 7 images

View all 6 images

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
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility 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
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17
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
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... 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
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... 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
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... OMIM:611603
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Partial agenesis of the corp... OMIM:604213
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Cyanosis, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:615779
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricul... OMIM:253300
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Cyanosis,... ORPHA:860
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Death in infancy OMIM:614876
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle dilatatio... OMIM:600348
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Atrial s... ORPHA:1354
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Central cyanosis, Tricuspid regurgit... OMIM:620067
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Atrial sept... OMIM:607941
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Chylopericardium, Pulmonary arterial hypertension, Tricuspid regurgitat... ORPHA:2414
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Torticollis OMIM:249670
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Cyanosis, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Trans... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Perching Syndrome
Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... ORPHA:444013
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor... ORPHA:2299
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o... ORPHA:555874
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Nemaline Myopathy 9
Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Adams-Oliver Syndrome 4
Cutis marmorata, Atrial septal defect, Ventricular septal defect OMIM:615297
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale 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
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Right ventricular failure, Myocardial fibrosis, Cyano... ORPHA:2302
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lateral ventricl... ORPHA:300573
Congenital Fibrinogen Deficiency
Cyanosis, Internal hemorrhage, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachy... 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, Left ventricular hypertrophy, Ventricular sep... 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
Congestive heart failure, Cyanosis, Myopathy, Bradycardia, ST segment elevation, Cardiomyopathy, ... OMIM:261740
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Tachycardia, ... ORPHA:3426
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Gray matter heterotopia, Pachygyria ORPHA:2512
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Tricus... OMIM:619705
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation ORPHA:79094
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Abnormal righ... 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
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Truncus arteriosus, Death in infancy, Systolic heart murmur, Tetralo... OMIM:617478
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Upper limb muscle weakness, Acrocyanosis ORPHA:2901
Pulmonary Arteriovenous Malformation
Ischemic stroke, Myocardial infarction, Cyanosis, Bacterial endocarditis, Transient ischemic atta... ORPHA:2038
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Triceps weakness, Upper limb mu... ORPHA:98913
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Cardiomegaly, Reduce... ORPHA:980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... ORPHA:49827
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Buerger Disease
Vasculitis, Intermittent claudication, Raynaud phenomenon, Acrocyanosis, Arterial occlusion, Live... ORPHA:36258
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology, Heart murmur ORPHA:1867
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Overriding aorta, Atrial s... 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
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out... ORPHA:2326
Hsd10 Disease, Infantile Type
Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy ORPHA:391428
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Neonatal death, Death in infancy OMIM:613730
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Transposition of the great arteries, Cyanosis, Left ventricular outflow... ORPHA:99050
Lambert Syndrome
Jaundice, Ventricular septal defect ORPHA:1296
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Dextrocardia, Hypoxemia, Secundum atrial septal defect, Cyanosis ORPHA:2257
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Death in childhood, Secundum atrial septal defect, Severely reduced lef... OMIM:620609
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia, Cyanosis ORPHA:159
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia, Partial agenesis of t... ORPHA:101030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the corpus callosum OMIM:616171
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ... OMIM:613854
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect OMIM:249270
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... 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
Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Hypogonadism, Atrial septal defect, Ventricular septal def... OMIM:615996
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Cutis marmorata, 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
Myocarditis, Congestive heart failure, Purpura, Myositis, Vasculitis, Hypertension, Transient isc... ORPHA:183
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ... OMIM:613870
Necrotizing Enterocolitis
Bradycardia, Hypotension, Abnormal heart morphology, Cyanosis, Shock ORPHA:391673
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Noonan Syndrome 8
Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertr... OMIM:615355
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pericardial effusion, Right ventricular failure, Hypoxemia, D... ORPHA:199241
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Hypoxemia, Abnormal heart morphology, Heart murmur, R... ORPHA:97214
Acquired Methemoglobinemia
Tachycardia, Hypoxemia, Arrhythmia, Syncope, Palpitations, Cyanosis ORPHA:464453
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... ORPHA:1686
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Cyanosis,... ORPHA:137675
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Atrial septal defect, 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
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect, Acrocyanosis 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
Ventricular septal defect, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot 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
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Heterotaxy, Visceral, 1, X-Linked
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Cyanosis, Paten... OMIM:306955
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Infant Acute Respiratory Distress Syndrome
Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Tachycardia, Cyanosis ORPHA:70587
Hemimegalencephaly
Polymicrogyria, Gray matter heterotopia, Pachygyria ORPHA:99802
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Breath-Holding Spells
Cyanosis OMIM:607578
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Atrial septal defect, Dysplastic pulmonary valve, Tricuspid regurgi... OMIM:612863
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Death in infancy OMIM:147800
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Ventricular septal defect OMIM:602501
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect ORPHA:401935
Truncus Arteriosus
Transposition of the great arteries, Cyanosis, Aortic regurgitation, Cardiomegaly, Abnormal heart... ORPHA:3384
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atrial sept... OMIM:179613
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot ORPHA:1166
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in childhood, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Death... 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
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Trisomy X
Secondary amenorrhea, Atrial septal defect, Premature ovarian insufficiency, Ventricular septal d... ORPHA:3375
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Atriove... ORPHA:392
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Prolonged QT interval, Patent foramen ovale, Ventricular fibrilla... ORPHA:26793
Meckel Syndrome 14
Cyanosis, Mitral regurgitation, Tricuspid 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, Limb joint contracture, Cyanotic episode, Knee flexion contracture ORPHA:284417
Scimitar Syndrome
Congestive heart failure, Abnormal hemidiaphragm morphology, Heart block, Tricuspid atresia, Dext... 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, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ven... ORPHA:284169
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cutis marmorata, Ventricular septal defect, Death in childhood, Hypertrophic cardiomyopathy OMIM:612938
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Death in infancy, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ve... OMIM:613404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:600901
Congenital Tracheomalacia
Cyanosis, Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partia... ORPHA:95430
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Death in childhood, Dextrocardia, Cardiac total ... OMIM:608978
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weak... OMIM:619542
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Acrocyanosis, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Fucosidosis
Cardiomegaly, Decreased muscle mass, Vascular skin abnormality, Acrocyanosis ORPHA:349
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia 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
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... ORPHA:1457
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Ventricular septal defect ORPHA:290
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:227650
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Atrial septal defect, Ventricular septal defect, Macroglossia OMIM:615668
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial septal defect, Atrial flutter, 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, Atrial s... ORPHA:261183
Acalvaria
Abnormality of neuronal migration ORPHA:945
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Camptodactyly OMIM:301039
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Prolonged G2 phase of cell cycle, Ventricular septal defect, Flexion con... OMIM:227645
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricular septal defec... OMIM:603387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect OMIM:620210
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Filippi Syndrome
Ventricular septal defect OMIM:272440
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... 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
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Heart murmur, Aplasia/Hypoplasia of th... ORPHA:3309
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Patent foramen ovale, Arthrogryposis multiplex congenita, Death in infancy, Right ventr... OMIM:208085
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Death in childhood, Death in infancy OMIM:616901
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect OMIM:618142
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova... OMIM:619343
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, 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 3rd finger, Knee flexion contracture, Ve... OMIM:617201
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
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
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Tricuspid regurgitation OMIM:615879
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Overriding aorta, Ventricular septal defect, Secon... OMIM:617021
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Death in infancy ORPHA:452
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v... ORPHA:210122
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Death in infancy, Pulmonic st... ORPHA:7
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Brachydactyly, Type B1
Ventricular septal defect, Camptodactyly, Joint contracture of the hand OMIM:113000
Contractural Arachnodactyly, Congenital
Elbow flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Cam... OMIM:121050
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Aortic regurgitation, Prematurely aged appearance, Poor wound healing, ... OMIM:123700
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, De... OMIM:252010
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Acrocyanosis, Shock ORPHA:49566
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Orthodeoxia, Acrocyanosis ORPHA:2032
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenes... ORPHA:899
Warsaw Breakage Syndrome
Cutis marmorata, Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Bi... ORPHA:477817
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness 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, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Camptodactyly, Abnormal heart morphology, Arthrogryposis-like hand anomaly,... ORPHA:369891
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis ORPHA:3165
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Atrial septal defect, Ventricula... OMIM:618870
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis, Pulmonary arterial hypertension, Death in infancy OMIM:265120
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lis... OMIM:615219
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria ORPHA:255138
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Cutis marmorata, Raynaud phenomenon, Acro... ORPHA:416
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Pulmonic stenosis, Bruising susceptibility, Atrial septal defect, Ve... OMIM:610733
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:618316
Noonan Syndrome 10
Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral ... OMIM:616564
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Ventricular septal defect, Endometriosis OMIM:613680
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Atrial septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defect, Ve... OMIM:600987
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Cyanosis, Frontalis muscle weakness, Distal amyotrophy, EMG: m... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Cyanosis, Frontalis muscle weakness, Distal amyotrophy, EMG: m... ORPHA:98914
22Q11.2 Duplication Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic ... ORPHA:1727
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse, Camptodactyly OMIM:619980
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Flexion contracture, Hypertrophic cardiomyopathy OMIM:616897
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect OMIM:618494
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Transaldolase Deficiency
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Telangiectasia OMIM:606003
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Facial palsy,... ORPHA:31826
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Torticollis, Arrhythmia ORPHA:276432
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Costello Syndrome
Thickened Achilles tendon, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse,... ORPHA:3071
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:370959
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:329224
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
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni... 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
Cyanosis, Partial atrioventricular canal defect OMIM:620423
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic stenosis, ... OMIM:601186
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Hutchinson-Gilford Progeria Syndrome
Hypertension, Ventricular hypertrophy, Aortic valve stenosis, Abnormal mitral valve morphology, A... ORPHA:740
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, Pulmonic sten... OMIM:619657
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Flexion contracture, Atrial ... OMIM:608149
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Atrial septal defect, Ventricular septal defect, Tetra... ORPHA:2970
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy ORPHA:1493
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Atrioventricular block, Atrial septal... ORPHA:371428
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Atrial septal defect, Ventr... ORPHA:254346
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly OMIM:619123
Diabetic Embryopathy
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Aplasia/Hypo... ORPHA:1926
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Purpura, Vasculitis, Urticaria, Acrocyanosis, Erythema 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
Hypoxemia, Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion OMIM:610978
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Pulmonary arterial hypertension, Rhabdomyolysis, Tachycardia, Aborted sudden cardia... OMIM:614921
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Flexion contracture ORPHA:79243
Sepsis In Premature Infants
Purpura, Jaundice, Bradycardia, Petechiae, Hypotension, Tachycardia, Cyanosis ORPHA:90051
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:614961
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Telan... OMIM:612582
Transketolase Deficiency
Secondary amenorrhea, Patent foramen ovale, Abnormal heart morphology, Atrial septal defect, Vent... ORPHA:488618
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenes... ORPHA:35107
Fanconi Anemia, Complementation Group D2
Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:227646
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Truncus arteriosus, Pulmonic stenosis, Aortic valve... OMIM:609029
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Hypoxemia, Right ventricular failure, Cyanosis, Increased pulmonary v... ORPHA:60025
19P13.3 Microduplication Syndrome
Ventricular septal defect, Pulmonary arterial hypertension ORPHA:447980
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:2519
Alg9-Cdg
Atrial septal defect, Torticollis, Abnormal left ventricular outflow tract morphology, Hypoplasia... 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
Atrial septal defect, Ventricular septal defect, Flexion contracture OMIM:617452
Acrocardiofacial Syndrome
Truncus arteriosus, Death in infancy, Camptodactyly of finger, Mitral stenosis, Tetralogy of Fall... ORPHA:2008
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Partial agenesis of the corpus c... OMIM:619775
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female 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
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, Plethora, Pulmonary arterial hypertension, Acrocyanosis ORPHA:2905
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... 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
Pulmonic stenosis, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventr... ORPHA:435638
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Death in infancy OMIM:614576
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... 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
Atrial septal defect, Ventricular septal defect, Limb joint contracture 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
Cyanosis, Limb hypertonia OMIM:619580
Codas Syndrome