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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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

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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, Hypoplasia of the corpus callosum, Cerebral cortical atrophy ORPHA:531
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum 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 Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum, Gray matter heterotopia OMIM:600348
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicro... OMIM:604213
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cyanosi... ORPHA:1209
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Abnormality of neuronal mi... OMIM:618709
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... OMIM:618677
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Death in infancy, Ventricular septal defect OMIM:614876
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern OMIM:604804
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Adams-Oliver Syndrome 4
Atrial septal defect, Cutis marmorata, Ventricular septal defect OMIM:615297
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly OMIM:618572
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal cerebral white matter morphology, Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Torticollis, Atrial septal defect, Ventricular septal defect OMIM:249670
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal ... OMIM:619167
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonic stenosis, Congestive heart failure, Pulmonary arterial hyperten... ORPHA:2414
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Death in childhood, Ventricular septal defect OMIM:613759
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy... OMIM:108900
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging ORPHA:2901
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Congenital Fibrinogen Deficiency
Internal hemorrhage, Tachycardia, Right ventricular hypertrophy, Left ventricular hypertrophy, Su... ORPHA:335
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Simpl... OMIM:616212
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension, Ventricular septal defect OMIM:617021
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart ... ORPHA:422
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Asbestos Intoxication
Myocardial fibrosis, Right ventricular failure, Hepatojugular reflux, Oxygen desaturation on exer... ORPHA:2302
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia ORPHA:370980
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Focal cortical dyspla... ORPHA:101030
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Heart murmur, Abnormal heart morphology ORPHA:1867
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Hip flexor weakness, Weakness of the intrinsic hand muscles, Abnorm... ORPHA:98913
Lambert Syndrome
Jaundice, Ventricular septal defect ORPHA:1296
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Palpitations, Ischemic stroke, Bacterial endocarditis, Hemothorax, Epistaxi... ORPHA:2038
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:617044
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Double outlet right ventricle, Conge... ORPHA:2326
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Pulmonic stenosis, Double outlet right ventricle, Overriding aorta, Tetralo... ORPHA:3304
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Death in ... OMIM:617478
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:613458
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Endocarditis, Purpura, Abnormal pericardium morphology, Recurrent intrapulmonary he... ORPHA:183
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:261243
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Patent foramen ovale, Tetralogy o... OMIM:601005
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Tricuspid regurgitation, Cutis marmorata, Portal h... OMIM:616589
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuronal migration OMIM:608840
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Aortopulmonary window, Left ventricular outflow ... ORPHA:99050
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Cyanosis, Cardiomyopathy ORPHA:159
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pulmonic stenosis, Left... OMIM:615355
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Orthostatic hypotension, Skeletal muscle atrophy OMIM:252320
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect ORPHA:896
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Death in inf... OMIM:208085
Filippi Syndrome
Ventricular septal defect OMIM:272440
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular hypertrophy, Ventricular septal defect OMIM:612946
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral regurgitation, M... OMIM:612561
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... OMIM:615474
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pericardial effusion, Hemothorax, ... ORPHA:199241
Apnea, Central Sleep
Cyanosis OMIM:207720
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Dextrocardia, Hypoxemia, Cyanosis ORPHA:2257
Aase-Smith Syndrome I
Flexion contracture, Death in infancy, Ventricular septal defect OMIM:147800
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve... OMIM:248950
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Prolonged neonatal jaundice, Petechiae, Cardiomyopathy OMIM:225750
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Ventricular septal defect OMIM:602501
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Ventricular septal defect OMIM:608406
Eisenmenger Syndrome
Ventricular arrhythmia, Tricuspid regurgitation, Pulmonary arterial hypertension, Cyanosis, Synco... ORPHA:97214
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia OMIM:164180
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal d... OMIM:613404
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Hypoxemia, Tachycardia, Cyanosis, Syncope ORPHA:464453
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:1166
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:619189
Breath-Holding Spells
Cyanosis OMIM:607578
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology ORPHA:401935
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Double outlet ... OMIM:179613
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Acute Interstitial Pneumonia
Pericardial effusion, Cyanosis, Hypoxemia, Hypertension ORPHA:79126
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Hypoxemia, Cyanosis, Bradycardia ORPHA:70587
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Colpocephaly, Lissencephaly, Simplified gyral pattern OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Anencephaly, Cortical dysplasia, Agenesis of corp... OMIM:615287
Woods Syndrome
Ventricular septal defect OMIM:615236
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:1913
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Serkal Syndrome
Pulmonic stenosis, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:139466
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Decreased muscle mass, Cardiomegaly ORPHA:349
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeletal muscle atroph... OMIM:603387
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricular septal defect, Pericardial ... ORPHA:26793
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Ventricular septal defect ORPHA:290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Warsaw Breakage Syndrome
Tetralogy of Fallot, Cutis marmorata, Ventricular septal defect OMIM:613398
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis,... ORPHA:284169
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Periventricular nodu... OMIM:603671
Walker-Warburg Syndrome
Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrogyria, Abnormal... ORPHA:899
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Cutis marmorata, Hypertrophic cardiomyopathy OMIM:612938
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:600901
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Acalvaria
Abnormality of neuronal migration ORPHA:945
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:227650
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:261183
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect OMIM:600987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Burn-Mckeown Syndrome
Atrial septal defect, Hypomimic face, Ventricular septal defect OMIM:608572
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Atrial septal defect, Ventricular septal defect OMIM:601927
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Ventricular septal defect OMIM:113000
3C Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricu... ORPHA:7
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Patent foramen ov... OMIM:618316
Fanconi Anemia, Complementation Group C
Flexion contracture, Bruising susceptibility, Prolonged G2 phase of cell cycle, Ventricular septa... OMIM:227645
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:617360
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Knee flexion contracture, Ankle flexion contracture, Limb joint contracture ORPHA:284417
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hype... ORPHA:210122
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618142
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous pulmonary venous return, Tricuspid atresia, Truncus ... ORPHA:185
Pseudo-Torch Syndrome 2
Microcephaly, Polymicrogyria, Cerebral calcification, Gray matter heterotopia OMIM:617397
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema ORPHA:3165
Miller-Dieker Syndrome
Lissencephaly, Hypoplasia of the corpus callosum, Cerebral cortical atrophy ORPHA:531
Teebi Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect OMIM:145420
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormal cerebral white matter morphology, Abnormality of neuronal migration OMIM:300957
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Mitral regurgitation, Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:301039
Primary Hyperoxaluria
Acrocyanosis, Intermittent claudication, Cardiomyopathy, Arterial occlusion, Cutis marmorata, Hea... ORPHA:416
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Ritscher-Schinzel Syndrome 2
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:300963
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Gray matter heterotopia, Polymicrogyri... ORPHA:370959
Acquired Purpura Fulminans
Acrocyanosis, Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock ORPHA:49566
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect ORPHA:452
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation OMIM:611376
Gastrointestinal Defects And Immunodeficiency Syndrome
Hematochezia, Ventricular septal defect OMIM:243150
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Microcephaly, Abnormality of neuronal migration ORPHA:2518
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Camptodactyly, Ventricular septal defect OMIM:616145
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:600123
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Transaldolase Deficiency
Patent foramen ovale, Atrial septal defect, Telangiectasia, Ventricular septal defect OMIM:606003
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:609029
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pulmonic stenosis, Mitr... OMIM:616564
Noonan Syndrome 4
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Bruising susceptibility, Hype... OMIM:610733
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve ORPHA:500159
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Vici Syndrome
Cerebral cortical atrophy, Death in infancy, Agenesis of corpus callosum, Gray matter heterotopia ORPHA:1493
Desmosterolosis
Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrogyria, Abnormal... ORPHA:35107
Tetrasomy 5P
Heart murmur, Congestive heart failure, Pulmonary arterial hypertension, Aplasia/Hypoplasia of th... ORPHA:3309
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Ventricular septal defect OMIM:153400
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Erythema, Vasculitis, Urticaria ORPHA:343
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:1488
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Dysgyria, Microcephaly, Dilation of lateral ventricles ORPHA:135
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613457
Costello Syndrome
Macroglossia, Thickened Achilles tendon, Ventricular septal defect, Pulmonic stenosis, Mitral val... ORPHA:3071
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Secondary amenorrhea,... ORPHA:488618
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Neonatal death, Cyanosis, Death in infancy OMIM:265120
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Amenorrhea OMIM:110100
Ogden Syndrome
Cardiogenic shock, Torticollis, Arrhythmia, Ventricular septal defect ORPHA:276432
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Beaulieu-Boycott-Innes Syndrome
Endometriosis, Ventricular septal defect OMIM:613680
Pelger-Huet Anomaly
Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect OMIM:169400
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Abnormal heart morphology ORPHA:268943
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Transposition of the great arteries, Ventricular sep... ORPHA:1727
Dermatomyositis
Acrocyanosis, Arrhythmia, Pericarditis, Cutaneous photosensitivity, Sinus tachycardia, Telangiect... ORPHA:221
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Pulmonic s... OMIM:608149
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Flexion contracture, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect OMIM:619123
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Facial palsy, Tachycardia, Congestive heart failu... ORPHA:31826
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Transposition of the g... ORPHA:1926
Noonan Syndrome 2
Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Palmoplantar... OMIM:605275
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Abnormal periventricular ... OMIM:618476
Prune Belly Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Aplasia of the abdominal wa... ORPHA:2970
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Atrioventricular block, Double out... ORPHA:371428
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Pulmonary arterial hypertension, Transient isch... ORPHA:740
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect ORPHA:2519
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Macrogyria, Abnormal cortical gyra... ORPHA:2211
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Scapular winging, Ventricular septal defect, Tricuspid regurgitation, Paten... OMIM:618870
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia OMIM:187600
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:98914
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia, Abno... OMIM:610978
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Reduced subcutaneous adipose tissue, Atrial septal defect, Ventricular sept... OMIM:270450
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Ventricular septal defect, Abnormal heart morphology, Camptodactyly, Patent foramen... ORPHA:369891
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture, Intermittent claudication ORPHA:98028
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Acrocyanosis ORPHA:2905
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormality of the basal ganglia, ... ORPHA:157
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Arrhythmia, Atrial septal defect, Aortic regurgitation, Ventr... ORPHA:254346
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Dea... ORPHA:2008
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve ORPHA:329224
Visceral Steatosis, Congenital
Jaundice, Neonatal death, Myocardial steatosis OMIM:228100
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Torticollis, Cardiomegaly, Ventricular septal defect OMIM:617022
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Ogden Syndrome
Minimal subcutaneous fat, Atrial septal defect, Arrhythmia, Facial wrinkling, Ventricular septal ... OMIM:300855
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Neu-Laxova Syndrome
Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrogyria, Abnormal... ORPHA:2671
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Cutis marmorata, Congenital diaph... OMIM:617602
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Hypocapnia, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular ... ORPHA:70591
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Diaphragma... OMIM:601186
Hardikar Syndrome
Patent foramen ovale, Portal hypertension, Jaundice, Ventricular septal defect OMIM:612726
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect OMIM:617164
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Knee flexion contracture, Ske... ORPHA:435638
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Johnson Neuroectodermal Syndrome
Facial palsy, Ventricular septal defect OMIM:147770
Fanconi Anemia, Complementation Group D2
Bruising susceptibility, Prolonged G2 phase of cell cycle, Abnormal heart morphology OMIM:227646
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:618950
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Codas Syndrome
Ventricular septal defect ORPHA:1458
Noonan Syndrome 3
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Tricuspid valve prolapse, Pat... OMIM:609942
Sepsis In Premature Infants
Purpura, Hypotension, Jaundice, Petechiae, Tachycardia, Cyanosis, Bradycardia ORPHA:90051
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Death in infancy, Ventricular septal defect OMIM:614576
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Atrial septal defect, Ventricul... ORPHA:457279
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Abnormality of neuronal migrat... OMIM:608836
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis OMIM:613001
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:609053
Zellweger Syndrome
Jaundice, Death in infancy, Ventricular septal defect ORPHA:912
Neurocutaneous Melanocytosis
Death in infancy, Abnormality of neuronal migration ORPHA:2481
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Intracerebral periventricular calcifications, Abnormality of neuronal migration, Abno... ORPHA:228308
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Joubert Syndrome
Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration ORPHA:475
Char Syndrome
Ventricular septal defect ORPHA:46627
Trisomy 13
Atrial septal defect, Ventricular septal defect ORPHA:3378
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Congenital diap... ORPHA:1335
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Aortic va... ORPHA:96170
Sotos Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:117550
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Alagille Syndrome
Atrial septal defect, Telangiectasia of the skin, Hypertension, Ventricular septal defect ORPHA:52
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Ventricular septal defect, Abnormal heart morphology, Cong... ORPHA:354
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Congestive heart failure,... OMIM:601808
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Myasthenia Gravis
Acrocyanosis, Myositis, Raynaud phenomenon ORPHA:589
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
Cleft Larynx, Posterior
Cyanosis OMIM:215800