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Gene: Ddx3x MGI:103064

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
DEAD box helicase 3, X-linked
Synonyms:
embryonic RNA helicase,  Ddx3,  Fin14,  D1Pas1-rs2,  DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3, X-linked

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Ddx3x 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 Ddx3x by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Toriello-Carey Syndrome
Short stature, Postnatal growth retardation, Cardiomyopathy, Abnormal cardiac septum morphology, ... ORPHA:3338
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
ORPHA:457260

The table below shows human diseases predicted to be associated to Ddx3x by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal heart morp... ORPHA:439167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal... ORPHA:254534
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Eng-Strom Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S... ORPHA:1937
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Nemaline Myopathy 9
Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence OMIM:615731
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Neu-Laxova Syndrome 1
Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia... OMIM:256520
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonat... OMIM:600972
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature ORPHA:2515
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Dextrocardia, Polyhydramnios, Premature delivery becau... ORPHA:1662
Spinal Muscular Atrophy, Type I
Atrial septal defect, Decreased fetal movement, Ventricular septal defect OMIM:253300
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... ORPHA:1354
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Intrauterine grow... ORPHA:254528
Mosaic Trisomy 16
Ventricular septal defect, Premature birth, Large placenta, Abnormal heart morphology, Single umb... ORPHA:1708
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ... OMIM:616276
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Large placenta, A... OMIM:222470
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:614326
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Short stature, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Feingold Syndrome Type 2
Ventricular septal defect, Short stature ORPHA:391646
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Short stature ORPHA:1388
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Ventricular septal defect OMIM:619717
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Greenberg Dysplasia
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... OMIM:215140
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... OMIM:617021
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Kagami-Ogata Syndrome
Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... ORPHA:49827
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Single umbilical artery, Hypoplastic left heart, Disproportionate shor... ORPHA:2772
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Noonan Syndrome 8
Ventricular septal defect, Short stature, Polyhydramnios, Pleural effusion, Mitral regurgitation,... OMIM:615355
Tyshchenko Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Short stature, Pulmonic stenosis, Atr... OMIM:615102
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy OMIM:607598
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... OMIM:601927
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Umbilical hernia, Echogenic intracardiac focus,... OMIM:617751
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Restrictive Dermopathy 1
Atrial septal defect, Spontaneous chorioamniotic separation, Decreased fetal movement, Premature ... OMIM:275210
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hypoplastic le... OMIM:220210
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Weill-Marchesani Syndrome
Short stature, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Aortic valve s... ORPHA:3449
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Intrauterine growth retardation OMIM:614815
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Intellectual Developmental Disorder, Autosomal Dominant 47
Single umbilical artery, Increased nuchal translucency, Ventricular septal defect, Intrauterine g... OMIM:617635
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retar... OMIM:615583
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Singl... OMIM:616897
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Umbilical hernia, Pa... ORPHA:500159
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect, Intraut... OMIM:611134
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Single umbilical artery, Atrial septal defect, ... ORPHA:329224
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Postnatal growth retardation, Increased nuchal translucency, Hypotensi... OMIM:615668
Roifman Syndrome
Noncompaction cardiomyopathy, Short stature, Ventricular septal defect, Premature birth, Postnata... OMIM:616651
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, Atrial septal defect, Tetralog... OMIM:612946
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth ret... OMIM:612938
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Meningocele, Ane... ORPHA:1908
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Short stature OMIM:619189
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Single umbilical artery, Ventricular septal defect, Premature birth, Polyhydramnios ORPHA:2256
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Short stature ORPHA:1488
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Postnatal growth retardation, Growth delay, Pulmonic stenosis, Atrial ... OMIM:179613
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Ventricular septal defect OMIM:616816
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Breech presentation, Anencephaly, Single umbilical arter... OMIM:249000
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Short stature, Single umbilical... OMIM:618027
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Short stature OMIM:618330
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Pelger-Huet Anomaly
Umbilical hernia, Mild short stature, Ventricular septal defect OMIM:169400
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... ORPHA:1913
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Abnormal heart morphology, Umbilical hernia, Patent for... ORPHA:369891
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... OMIM:615279
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:619769
Serkal Syndrome
Growth delay, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, Ventricular septal defect, Short stature ORPHA:3369
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Growth delay, Mitral r... OMIM:612561
Emanuel Syndrome
Thickened nuchal skin fold, Decreased fetal movement, Ventricular septal defect, Truncus arterios... OMIM:609029
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Premature birth, Polyhydramnios, Short stature, Postnatal growth retar... ORPHA:96334
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect, Short stature ORPHA:1770
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Diabetic Embryopathy
Ventricular septal defect, Spinal dysraphism, Single umbilical artery, Transposition of the great... ORPHA:1926
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Dehydration, Abnormal plac... ORPHA:96191
Methimazole Embryofetopathy
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios ORPHA:1923
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Short stature OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Short stature ORPHA:1166
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele OMIM:601357
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Telangiectasia, Atrial septal defect, Umbilical hernia, Tetralogy of F... OMIM:612582
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Transaldolase Deficiency
Ventricular septal defect, Telangiectasia, Atrial septal defect, Intrauterine growth retardation,... OMIM:606003
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Postnatal growth reta... ORPHA:7
Emanuel Syndrome
Decreased fetal movement, Ventricular septal defect, Truncus arteriosus, Premature birth, Breech ... ORPHA:96170
Congenital Rubella Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature ORPHA:290
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic rig... OMIM:618142
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:620210
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra... ORPHA:99776
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... OMIM:618494
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Short stature, Increased nuchal translucency,... OMIM:618870
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Short stature, Congestive heart failur... OMIM:601808
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension, Gro... OMIM:614424
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
King-Denborough Syndrome
Decreased fetal movement, Ventricular septal defect, Short stature, Breech presentation OMIM:619542
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Cardiomegaly, Large placenta, Subchorionic septal cyst, Umbilica... ORPHA:116
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short stature, Ventricular septal defect, Polyhydramnios, Atrial septal defect, Intrauterine grow... OMIM:617360
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Ventricular septal defect, Low APGAR score ORPHA:79243
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele, Ventricular septal defect ORPHA:2876
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Growth delay, Intrauter... OMIM:612562
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Disproportionate short-limb short stature ORPHA:1425
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect OMIM:613870
Seckel Syndrome 9
Decreased fetal movement, Short stature, Ventricular septal defect, Polyhydramnios, Atrial septal... OMIM:616777
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu... ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... OMIM:600001
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Trisomy 13
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Growth delay, Atrial septal defect, Intrauterine growth... OMIM:614576
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Short stature, Polyhydramnios, Abnormal left ventricular function, Pul... OMIM:301056
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Cat Eye Syndrome
Ventricular septal defect, Short stature, Hypoplastic left heart, Total anomalous pulmonary venou... OMIM:115470
19P13.3 Microduplication Syndrome
Growth delay, Pulmonary arterial hypertension, Ventricular septal defect, Intrauterine growth ret... ORPHA:447980
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Carpenter Syndrome 1
Ventricular septal defect, Short stature, Tetralogy of Fallot, Transposition of the great arterie... OMIM:201000
Galloway-Mowat Syndrome 7
Short stature, Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature OMIM:617450
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Short stature, Polyhydramnios, Mitral valv... ORPHA:3071
Alagille Syndrome
Telangiectasia of the skin, Ventricular septal defect, Hypertension, Delayed puberty, Atrial sept... ORPHA:52
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Kagami-Ogata Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defe... OMIM:608149
Noonan Syndrome 4
Ventricular septal defect, Short stature, Polyhydramnios, Pulmonic stenosis, Atrial septal defect... OMIM:610733
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Single umbilical arter... ORPHA:210122
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... ORPHA:185
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short stature, Increased nuchal translucency, Mitral ... OMIM:616564
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Patent foramen ovale, Right ventr... OMIM:614261
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension OMIM:616589
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature ORPHA:75389
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Microphthalmia, Syndromic 9
Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Hypoplastic... OMIM:601186
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Patent foramen ova... OMIM:208085
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Edema, Polyhydramnios, Anencephaly, Neonatal death, Intrauterine growt... OMIM:269860
Prune Belly Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Oligohydramnios ORPHA:2970
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr... ORPHA:254346
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... OMIM:618316
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Filippi Syndrome
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... ORPHA:3255
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:617452
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial ano... OMIM:608978
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Short stature OMIM:608572
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Short stature ORPHA:85202
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Short stature, Postnatal growth retardation, Intrauterine growth retar... OMIM:620113
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Atrial septal defec... OMIM:270450
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... ORPHA:494344
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature ORPHA:505237
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Short stature, Secundum atrial septal defect, Perimembranous ventricul... OMIM:600987
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:619909
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Short stature, Ventricular septal defect, Rhizomelia, Growth delay, Severe ... OMIM:614114
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Short stature, Increased nuchal trans... OMIM:605275
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Noonan Syndrome 9
Short stature, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Polyhydramnios, Hematochezia, Congenital pulmonary airway malformation... OMIM:243150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Short stature, Ventricular septal defect, Premature birth, Polyhydramnios, Growth delay, Atrial s... OMIM:300998
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Gm1 Gangliosidosis
Ventricular septal defect, Premature birth, Short stature, Congestive heart failure, Hydrops feta... ORPHA:354
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... OMIM:609053
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature OMIM:609654
Warsaw Breakage Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular s... OMIM:613398
Heart And Brain Malformation Syndrome
Growth delay, Ventricular septal defect, Polyhydramnios OMIM:616920
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Premature birth, Short statur... ORPHA:261330
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Short stature, Ventricular septal defect, Heart murmur ORPHA:166035
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Growth delay, Hy... OMIM:614653
Spondylo-Ocular Syndrome
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature ORPHA:85194
Trisomy 1Q
Increased nuchal translucency, Ventricular septal defect, Hydrops fetalis, Polyhydramnios ORPHA:261344
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardial effusion OMIM:219730
22Q11.2 Duplication Syndrome
Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... OMIM:300855
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Atrial se... ORPHA:1335
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect OMIM:222448
Braddock-Carey Syndrome 1
Growth delay, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature, Meningocele, Umbilical hernia OMIM:130720
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Amniotic c... ORPHA:2369
Ogden Syndrome
Postnatal growth retardation, Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Dilate... OMIM:614921
De Barsy Syndrome
Decreased fetal movement, Ventricular septal defect, Short stature, Postnatal growth retardation,... ORPHA:2962
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Short stature OMIM:615630
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary airway malformat... OMIM:611812
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... OMIM:264480
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... ORPHA:1393
Diets-Jongmans Syndrome
Short stature, Ventricular septal defect, Polyhydramnios, Breech presentation, Umbilical hernia OMIM:618846
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Short Stature-Micrognathia Syndrome
Intrauterine growth retardation, Rhizomelia, Ventricular septal defect, Short stature OMIM:617164
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature OMIM:218350
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Premature birth, Abnormality of prenatal development or birth, Ventous... OMIM:619229
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Atrial septal ... ORPHA:3380
Bohring-Opitz Syndrome
Short stature, Ventricular septal defect, Polyhydramnios, Mesomelic/rhizomelic limb shortening, A... OMIM:605039
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short stature ORPHA:261190
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Single umbilical artery, Ventricular septal defect, Short stature OMIM:145420
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Lymphedema, Ascites OMIM:235255
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Myopathy With Extrapyramidal Signs
Growth delay, Ventricular septal defect OMIM:615673
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Postnatal growth retardation, Growth delay, Perimembranous ventricular... OMIM:301040
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:603387
Kury-Isidor Syndrome
Growth delay, Ventricular septal defect OMIM:619762
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thickened nuchal skin fold, Ventricular septal defect OMIM:220500
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Weill-Marchesani Syndrome 2
Ventricular septal defect, Short stature, Proportionate short stature, Congestive heart failure, ... OMIM:608328
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Codas Syndrome
Ventricular septal defect, Short stature ORPHA:1458
Fanconi Anemia, Complementation Group B
Growth delay, Intrauterine growth retardation, Single umbilical artery, Ventricular septal defect OMIM:300514
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Short stature, Partial anomalous pulmonary venous return... OMIM:619657
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Growth delay, Mitral stenosi... ORPHA:96201
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Noonan Syndrome 3
Ventricular septal defect, Short stature, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi... OMIM:609942
Woods Syndrome
Ventricular septal defect OMIM:615236
Opitz Gbbb Syndrome
Growth delay, Umbilical hernia, Ventricular septal defect OMIM:300000
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Ventricular septal defect ORPHA:3078
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Short stature OMIM:618325
Radio-Tartaglia Syndrome
Ventricular septal defect, Fetal distress OMIM:619312
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Ventricular septal defect ORPHA:217346
Velocardiofacial Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Short stature OMIM:192430
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries OMIM:619995
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ... OMIM:614866
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Short stature OMIM:616901
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Growth delay, Ventricular septal defect, Short stature ORPHA:457193
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short stature, Pulmonary arterial hypertension, Umbilical hernia, Pate... OMIM:618454
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left h... OMIM:100300
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Transketolase Deficiency
Ventricular septal defect, Proportionate short stature, Abnormal heart morphology, Atrial septal ... ORPHA:488618
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Intrauterine growth retardation... ORPHA:2008
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect OMIM:617061
Zellweger Syndrome
Thickened nuchal skin fold, Short stature, Ventricular septal defect, Premature birth ORPHA:912
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Right bundle b... OMIM:617506
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Short stature, Growth delay, Coronary artery fistula, Ab... OMIM:614294
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Short stature, Spina bifida occulta, Growth delay, Atrial septal defec... OMIM:301030
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Tricuspid regurgitation, Ventricular septal... ORPHA:79328
Trichothiodystrophy
Ventricular septal defect, Abnormality of prenatal development or birth, Cardiomyopathy, Umbilica... ORPHA:33364
Mgat2-Cdg
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ... ORPHA:79329
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... OMIM:270100
Sotos Syndrome
Atrial septal defect, Decreased fetal movement, Muscular ventricular septal defect, Ventricular s... OMIM:117550
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Ventricular septal defect, Polyhydramnios OMIM:615503
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morp... ORPHA:2092
Diamond-Blackfan Anemia 5
Ventricular septal defect, Short stature OMIM:612528
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Short stature, Shortened PR interval, ... OMIM:614947
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:617602
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Cohen Syndrome
Decreased fetal movement, Ventricular septal defect, Short stature, Mitral valve prolapse, Delaye... ORPHA:193
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Proportionate short stature, Postnatal growth retardation, Increased n... ORPHA:79345
Koolen-De Vries Syndrome
Ventricular septal defect, Short stature, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal... OMIM:610443
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac septum morphology, Atria... ORPHA:209905
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Ascites, Ventricular septal defect, Polyhydramnios ORPHA:1655
Kapur-Toriello Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:244300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:2519
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect ORPHA:2710
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Birth length less than 3rd perce... ORPHA:464311
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Short stature OMIM:617159
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... ORPHA:508498
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Short stature, Coronary artery fistula, Neonatal... OMIM:620024
Mosaic Trisomy 1
Single umbilical artery, Increased nuchal translucency, Ventricular septal defect, Polyhydramnios ORPHA:1692
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Pulmonic stenosis... OMIM:607721
Kleefstra Syndrome
Short stature, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Short stature... OMIM:190685
Dysosteosclerosis
Ventricular septal defect, Short stature ORPHA:1782
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Opitz Gbbb Syndrome
Ventricular septal defect, Short stature, Abnormal heart morphology, Atrial septal defect, Umbili... ORPHA:2745
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Postnatal growth retardation, Growth dela... OMIM:257920
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Short stature OMIM:610536
Marshall-Smith Syndrome
Ventricular septal defect, Short stature, Premature ventricular contraction, Pulmonary arterial h... OMIM:602535
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Spina bifida occu... OMIM:300373
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Weill-Marchesani Syndrome 1
Short stature, Ventricular septal defect, Proportionate short stature, Mitral regurgitation, Pulm... OMIM:277600
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Growth delay, Intrauterine growth retardatio... ORPHA:506
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Short stature OMIM:612530
Thakker-Donnai Syndrome
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of... ORPHA:1780
Jacobsen Syndrome
Ventricular septal defect, Premature birth, Spina bifida, Short stature, Growth delay, Hypoplasti... ORPHA:2308
Hardikar Syndrome
Ventricular septal defect, Short stature, Portal hypertension, Hematemesis, Partial anomalous pul... OMIM:301068
Char Syndrome
Ventricular septal defect ORPHA:46627
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Arrhythmia, Tetralogy of Fallot ORPHA:1519
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... OMIM:236680
Robinow Syndrome
Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmonic stenosis, Atrial se... ORPHA:97360
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Short stature, Spina bifida, Edema of the... OMIM:274000
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Premature birth, Short stature, Congestive heart f... OMIM:105650
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Umbilica... OMIM:616145
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Ventricular septal defect OMIM:234050
Codas Syndrome
Short stature, Ventricular septal defect, Polyhydramnios, Atrial septal defect, Atrioventricular ... OMIM:600373
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Short stature, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal... OMIM:610759
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature ORPHA:52055
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... ORPHA:2209
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Ventricular septal defect OMIM:610832
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... ORPHA:1507
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... ORPHA:3097
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Loeys-Dietz Syndrome 5
Ventricular septal defect, Short stature, Growth delay, Mitral regurgitation, Atrial septal defec... OMIM:615582
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral... ORPHA:163956
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Short stature ORPHA:96097
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Truncus art... ORPHA:508488
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Short stature, Intrauterine growth retardation, ... ORPHA:464306
Rabson-Mendenhall Syndrome
Ventricular septal defect, Short stature, Cardiomyopathy, Severe postnatal growth retardation, At... ORPHA:769
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Postnatal growth retardation, Ventricular septal defect OMIM:300963
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Short stature, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis,... OMIM:602782
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:212066
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, S... OMIM:192350
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,... ORPHA:2162
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Short stature, Abnormal h... ORPHA:84064
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Ventricular septal defect ORPHA:77298
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Polyhydramnios, Cardiomyop... ORPHA:373
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Chromosome 13Q14 Deletion Syndrome
Growth delay, Umbilical hernia, Ventricular septal defect, Patent foramen ovale OMIM:613884
Larsen Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... OMIM:150250
Duane-Radial Ray Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect OMIM:607323
Congenital Tracheomalacia
Ventricular septal defect, Premature birth, Cardiomegaly, Partial anomalous pulmonary venous retu... ORPHA:95430
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect ORPHA:452
Omodysplasia 1
Rhizomelia, Ventricular septal defect, Disproportionate short-limb short stature, Atrial septal d... OMIM:258315
Hajdu-Cheney Syndrome
Mitral stenosis, Short stature, Ventricular septal defect, Delayed puberty, Umbilical hernia, Aor... ORPHA:955
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Tricuspid... ORPHA:261337
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Ventricular septal defect ORPHA:251028
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short stature ORPHA:261236
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:488632
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature OMIM:300472
Meier-Gorlin Syndrome 7
Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Gr... OMIM:617063
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Junctional ectopic tachycardia, Atria... OMIM:309801
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Umbi... OMIM:280000
Pallister-Hall Syndrome
Neonatal death, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:146510
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Chops Syndrome
Ventricular septal defect, Short stature, Patent foramen ovale, Anomalous pulmonary venous return OMIM:616368
C Syndrome
Ventricular septal defect, Short stature OMIM:211750
Trichohepatoneurodevelopmental Syndrome
Decreased fetal movement, Ventricular septal defect, Premature birth, Polyhydramnios OMIM:618268
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary airway malformat... ORPHA:436252
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... ORPHA:363958
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Breech presentation, Muscular ventricular septal defect, Disproportion... OMIM:210710
Chromosome 14Q11-Q22 Deletion Syndrome
Growth delay, Ventricular septal defect, Patent foramen ovale, Proportionate short stature OMIM:613457
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect, Short stature, Delayed puberty ORPHA:3138
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Mitral ... ORPHA:444072
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect, Caesarian section, Short stature OMIM:619575
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis OMIM:263520
Coffin-Siris Syndrome 4
Short stature, Ventricular septal defect, Mitral atresia, Pulmonic stenosis, Atrial septal defect... OMIM:614609
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:464738
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short stature, Paten... OMIM:616894
Hajdu-Cheney Syndrome
Umbilical hernia, Ventricular septal defect, Short stature OMIM:102500
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Ventricular septal defect OMIM:617798
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Birth length less than 3rd percen... OMIM:139210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Ventricular septal defect, Heart murmur, Intracranial hemorrhage, Atrial septal de... ORPHA:163979
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, At... OMIM:249420
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Rhizomelia, Increased nuchal translucen... ORPHA:818
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat... ORPHA:3472
Peroxisome Biogenesis Disorder 1A (Zellweger)
Breech presentation, Ventricular septal defect OMIM:214100
Degcags Syndrome
Tachycardia, Ventricular septal defect, Premature birth, Polyhydramnios, Echogenic fetal bowel, B... OMIM:619488
Diamond-Blackfan Anemia 10
Growth delay, Ventricular septal defect, Short stature OMIM:613309
Cerebellofaciodental Syndrome
Ventricular septal defect, Short stature, Mitral valve prolapse OMIM:616202
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Short stature, Double outlet right ventricle, Mitral val... OMIM:300166
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Short stature, Spina bifida, Polyhydramnios, Postnatal growth retardat... OMIM:180849
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Short statu... ORPHA:268261
Coffin-Siris Syndrome
Ventricular septal defect, Postnatal growth retardation, Abnormal heart morphology, Growth delay,... ORPHA:1465
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Aortic valve stenosis ORPHA:96121
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Short stature OMIM:178110
Craniofacioskeletal Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:300712
Marden-Walker Syndrome
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal a... ORPHA:2461
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect ORPHA:96167
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis ORPHA:268249
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Short stature OMIM:272950
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Short stature OMIM:244450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Nuchal cord, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... OMIM:619475
Fryns Syndrome
Ventricular septal defect, Polyhydramnios, Stillbirth, Chylothorax, Atrial septal defect OMIM:229850
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short stature ORPHA:251014
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Short stature OMIM:250410
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo... OMIM:608670
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:227645
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Growth delay, Absence of stomach bubble on fetal sonog... ORPHA:1199
Costello Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Short stature, Mitral valve prolapse,... OMIM:218040
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Short stature, Breech presentation, Growth delay... OMIM:617140
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Ventricular septal defect, Polyhydramnios, Growth delay, Atrial septal defe... ORPHA:3047
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Mckusick-Kaufman Syndrome
Ventricular septal defect, Short stature, Hypoplastic left heart, Atrial septal defect, Tetralogy... ORPHA:2473
Feingold Syndrome 1
Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Tricuspi... OMIM:164280
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Smith-Lemli-Opitz Syndrome
Decreased fetal movement, Ventricular septal defect, Premature birth, Short stature, Breech prese... OMIM:270400
Jacobsen Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:147791
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Upper eyelid edema, Growth delay, Pulmo... OMIM:616268
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, 5-minute APGAR score of 3, Hypoplastic ... ORPHA:141127
Cornelia De Lange Syndrome 1
Intrauterine growth retardation, Ventricular septal defect, Short stature OMIM:122470
Cardiospondylocarpofacial Syndrome
Decreased fetal movement, Ventricular septal defect, Short stature, Muscular ventricular septal d... OMIM:157800
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect OMIM:609460
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Short stature, Mitral valv... OMIM:194050
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary arterial hypertension, Ventricular septal defect, Polyhydramnios, Aortopulmonary window OMIM:620025
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnormal heart morphology, G... ORPHA:124
Noonan Syndrome 1
Ventricular septal defect, Short stature, Lymphedema, Postnatal growth retardation, Chylothorax, ... OMIM:163950
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Mosaic Trisomy 20
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... ORPHA:1724
Apert Syndrome
Rhizomelic arm shortening, Overriding aorta, Ventricular septal defect OMIM:101200
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale, Short stature OMIM:616975
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Spina bifida occulta, Ventricular septal defect, Mitral valv... ORPHA:500095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Growth delay, Ventricular septal defect, Premature birth OMIM:619418
Peters-Plus Syndrome
Ventricular septal defect, Rhizomelia, Polyhydramnios, Postnatal growth retardation, Birth length... OMIM:261540
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Growth delay, De... ORPHA:459070
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:142900
Charge Syndrome
Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Postn... OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Short stature, Congestive heart failure, Abnormal heart morphology, Pu... ORPHA:444077
Coffin-Siris Syndrome 1
Ventricular septal defect, Short stature, Postnatal growth retardation, Tetralogy of Fallot, Atri... OMIM:135900
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Short stature, Coronary sinus enlargement, Polyhy... OMIM:619472
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation, Atr... OMIM:271640
Cerebrocostomandibular Syndrome
Atrial septal defect, Postnatal growth retardation, Ventricular septal defect, Polyhydramnios OMIM:117650
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Polyhydramnios, Cardiomyopathy, Total anomalous pulmonary venous retur... OMIM:312870
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased fetal movement, Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal a... OMIM:619503
Acrofacial Dysostosis 1, Nager Type
Short stature, Tetralogy of Fallot, Ventricular septal defect, Premature birth OMIM:154400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Mitra... ORPHA:363700
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Short stature, ... ORPHA:353281
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Growth delay, Atrial septal... OMIM:301044
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Intrauterine growth retardation, Atrial septal defect, ... ORPHA:672
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Cornelia De Lange Syndrome
Ventricular septal defect, Prenatal movement abnormality, Premature birth, Short stature, Increas... ORPHA:199
Microphthalmia, Syndromic 3
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:206900
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, S... OMIM:268300
Johanson-Blizzard Syndrome
Ventricular septal defect, Short stature, Portal hypertension, Situs inversus totalis, Dilated ca... OMIM:243800
Wolf-Hirschhorn Syndrome
Decreased fetal movement, Ventricular septal defect, Short stature, Growth delay, Severe postnata... OMIM:194190
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Growth delay, Tetralogy of Fallot, Ventricular septal defect OMIM:600460
Digeorge Syndrome
Ventricular septal defect, Short stature, Umbilical hernia, Truncus arteriosus, Tetralogy of Fallot OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect OMIM:620330
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Short stature, Coronary sinus enlargement, Atrial septal defect, Paten... OMIM:619268
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... OMIM:607872
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Situs inversus totalis, Atrial septal defect, Tetralogy... OMIM:309500
Phace Association
Ventricular septal defect OMIM:606519
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmo... ORPHA:438213
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Orofaciodigital Syndrome Xiv
Atrial septal defect, Occipital encephalocele, Ventricular septal defect OMIM:615948
Yunis-Varon Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Growth... OMIM:216340
Townes-Brocks Syndrome 1
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Penile Agenesis
Atrial septal defect, Fetal pyelectasis, Ventricular septal defect, Oligohydramnios ORPHA:49
Femoral-Facial Syndrome
Truncus arteriosus, Short stature, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Polyhydramnios, Mesomelic/rhi... OMIM:601803
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Short stature OMIM:619727
Alagille Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:118450
Sotos Syndrome
Ventricular septal defect, Pedal edema, Abnormal heart morphology, Atrial septal defect, Umbilica... ORPHA:821
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature OMIM:259770
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Intrauterine growth... OMIM:619522
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect, Delayed puberty OMIM:181450
Kabuki Syndrome 1
Ventricular septal defect, Short stature, Postnatal growth retardation, Growth delay, Atrial sept... OMIM:147920
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Mowat-Wilson Syndrome
Short stature, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial se... OMIM:235730
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios OMIM:606170
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect ORPHA:513456
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stat... ORPHA:261552
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Tetralogy of Fallot, Ventricular septal defect OMIM:164210
Toriello-Carey Syndrome
Short stature, Postnatal growth retardation, Cardiomyopathy, Abnormal cardiac septum morphology, ... ORPHA:3338
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
ORPHA:457260

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ddx3x

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ddx3x.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ddx3xem1WTSI PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ddx3xtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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