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

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.

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
Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardatio... 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, Small placenta, Abnormal heart morphology, Intra... ORPHA:439167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Postnatal growth retardation, Large placenta, Ventri... ORPHA:254534
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Severe postnatal g... ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615297
Eng-Strom Syndrome
Short stature, Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular s... ORPHA:1937
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Nemaline Myopathy 9
Polyhydramnios, Fetal akinesia sequence, Breech presentation, Ventricular septal defect OMIM:615731
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili... OMIM:256520
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Umbilical hernia, Breech presentation, Stillbirth, Polyhydramn... OMIM:600972
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... ORPHA:99095
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Sonoda Syndrome
Short stature, Ventricular septal defect OMIM:270460
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Microcephaly-Cardiomyopathy Syndrome
Short stature, Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... ORPHA:1662
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Large placenta, ... ORPHA:254528
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh... ORPHA:1354
Spinal Muscular Atrophy, Type I
Atrial septal defect, Decreased fetal movement, Ventricular septal defect OMIM:253300
Mosaic Trisomy 16
Abnormal heart morphology, Intrauterine growth retardation, Large placenta, Ventricular septal de... ORPHA:1708
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Intrauterine growth retardation, Large placenta, Abnor... OMIM:222470
Mesoaxial Hexadactyly And Cardiac Malformation
Short stature, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Ventricular septal defect OMIM:614326
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Feingold Syndrome Type 2
Short stature, Ventricular septal defect ORPHA:391646
Congenital Syphilis
Intrauterine growth retardation, Large placenta, Myocarditis, Hydrops fetalis, Premature birth ORPHA:499009
Catel-Manzke Syndrome
Short stature, Atrial septal defect, Ventricular septal defect ORPHA:1388
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Greenberg Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Large placenta, Increased nuchal transluce... OMIM:215140
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Intrauterine growth re... OMIM:617021
Kagami-Ogata Syndrome
Polyhydramnios, Postnatal growth retardation, Large placenta, Premature birth ORPHA:254519
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Noonan Syndrome 12
Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Ventricular septal defect OMIM:601355
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Disproportionate short-limb short stature, Intrauterine growth retardatio... ORPHA:2772
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Tyshchenko Syndrome
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Polyhydramnios,... OMIM:615102
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... OMIM:615355
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Single umbilical artery, Polyhydr... ORPHA:3405
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema OMIM:607598
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Intellectual Developmental Disorder, Autosomal Dominant 48
Echogenic intracardiac focus, Umbilical hernia, Intrauterine growth retardation, Ventricular sept... OMIM:617751
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Fetal distress, Mitral regurgitation, Ventricular sept... OMIM:615879
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Pedal edema, Systolic heart m... ORPHA:2299
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Neonatal death OMIM:615524
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Short stature, Pulmonic s... ORPHA:3449
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Joubert Syndrome 18
Intrauterine growth retardation, Occipital encephalocele, Ventricular septal defect OMIM:614815
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Stillbirth OMIM:263630
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Increased nuchal translucency, Single umbilical artery, Ventricu... OMIM:617635
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... ORPHA:500159
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Ventricu... OMIM:616897
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial ... ORPHA:329224
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... OMIM:615583
Chromosome 5Q12 Deletion Syndrome
Hypotension, Postnatal growth retardation, Increased nuchal translucency, Patent foramen ovale, V... OMIM:615668
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:2143
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... OMIM:611134
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... OMIM:249270
Roifman Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Noncomp... OMIM:616651
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Edema, Tricuspid regurgitation, Muscular ventricular septal defect, ... OMIM:212093
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Sh... OMIM:612946
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Umbilica... OMIM:612938
Li-Campeau Syndrome
Short stature, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Postnatal growth retardation, Ventricular septal defect, Double outlet right... OMIM:179613
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Premature birth, Single umbilical artery, Ventricular septal defect ORPHA:2256
Coffin-Siris Syndrome 7
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Single u... OMIM:618027
Cooper-Jabs Syndrome
Short stature, Ventricular septal defect, Umbilical hernia ORPHA:1488
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Ventricular septal defect OMIM:616816
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Sho... ORPHA:369891
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... ORPHA:1913
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Atrial septal defect, Ventricular septal defect OMIM:618330
Pelger-Huet Anomaly
Ventricular septal defect, Mild short stature, Umbilical hernia OMIM:169400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Meckel Syndrome, Type 1
Occipital encephalocele, Intrauterine growth retardation, Oligohydramnios, Large placenta, Breech... OMIM:249000
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Atrial septal defect, Ventricular ... OMIM:615996
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Short stature, Pulm... OMIM:615279
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:619769
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Postnatal growth retardation, Ventricular septal defect ORPHA:3369
Serkal Syndrome
Oligohydramnios, Growth delay, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Emanuel Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Decreased fetal movement... OMIM:609029
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Growth delay, Hypertrophic cardiomyopathy, Postnatal growth retardation, Intra... ORPHA:96334
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Ventricular septal defect, Umbilical hernia ORPHA:1770
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Pedal edema, B... ORPHA:97214
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios,... ORPHA:96191
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... ORPHA:1926
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Proportionate short stature OMIM:617044
Methimazole Embryofetopathy
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:261243
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Neonatal death OMIM:613730
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Transaldolase Deficiency
Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect... OMIM:606003
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect OMIM:601357
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:612582
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... OMIM:618870
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Hypoplastic right heart, Atrial septal defect, Ventricular septa... OMIM:618142
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Emanuel Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Decreased fetal movement... ORPHA:96170
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... OMIM:618494
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Congenital Rubella Syndrome
Short stature, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect ORPHA:290
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Postnatal growth retardation,... ORPHA:7
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Oligohydramnios, Endocardial fi... ORPHA:99776
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Umbilical hernia, Pleural effusion, Mild postnatal growth retardation, Nonimmune hydr... OMIM:235510
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect ORPHA:2516
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Umbilical hernia... OMIM:601808
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Joubert Syndrome 14
Growth delay, Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hyp... OMIM:614424
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Cardiome... ORPHA:116
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Fetal distress, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:612562
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Polyhydramnios,... OMIM:617360
Phaver Syndrome
Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect ORPHA:2876
Genitopalatocardiac Syndrome
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect OMIM:231060
Seckel Syndrome 9
Intrauterine growth retardation, Decreased fetal movement, Ventricular septal defect, Atrial sept... OMIM:616777
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Atrial septal defect, Ventricular septal defect OMIM:613870
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypoplastic left... OMIM:306955
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Ventricular septal defect, Double outlet right ventricle, Polyhy... OMIM:301056
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art... ORPHA:3426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal... OMIM:600001
Trisomy 13
Intrauterine growth retardation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Growth delay, P... OMIM:614576
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of... ORPHA:2255
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Carpenter Syndrome 1
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arte... OMIM:201000
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Thickened nuchal s... ORPHA:3071
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Fetal ... OMIM:617022
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Alagille Syndrome
Intrauterine growth retardation, Ventricular septal defect, Telangiectasia of the skin, Delayed p... ORPHA:52
Galloway-Mowat Syndrome 7
Short stature, Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Kagami-Ogata Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Polyhydramnios,... OMIM:608149
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:401935
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Umbilical hernia, Mitral atresia, Intrauterine gro... OMIM:618164
Scimitar Syndrome
Hypoplastic left heart, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot,... ORPHA:185
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Sho... OMIM:610733
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Short stature, Right ventr... OMIM:614261
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect OMIM:616589
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect, Umbilical hernia ORPHA:96129
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect ORPHA:75389
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Microphthalmia, Syndromic 9
Severe short stature, Hypoplastic left atrium, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:601186
Prune Belly Syndrome
Tetralogy of Fallot, Oligohydramnios, Atrial septal defect, Ventricular septal defect ORPHA:2970
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Ventricular septal d... ORPHA:254346
Keutel Syndrome
Short stature, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Right ven... OMIM:208085
Short-Rib Thoracic Dysplasia 12
Ascites, Intrauterine growth retardation, Patent foramen ovale, Neonatal death, Ventricular septa... OMIM:269860
Filippi Syndrome
Severe short stature, Intrauterine growth retardation, Ventricular septal defect, Short stature, ... ORPHA:3255
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular septal defect, Neonata... OMIM:608978
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:600987
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... OMIM:153400
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Patent foramen ov... OMIM:620113
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal d... OMIM:270450
Structural Heart Defects And Renal Anomalies Syndrome
Generalized edema, Tetralogy of Fallot, Ventricular septal defect, Truncus arteriosus, Atrial sep... OMIM:617478
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Rhizomelia, Intrauterine growth retardation, Ventricular septal defect, Sub... OMIM:614114
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, P... OMIM:300998
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Intrauterine growth retardation, Ventricu... OMIM:243150
Noonan Syndrome 9
Short stature, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Umbilical hernia, Increased nuchal translucency, Ventricular septal defe... OMIM:620654
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypoplast... OMIM:265380
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature OMIM:609654
Warsaw Breakage Syndrome
Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardation, Ventricular s... OMIM:613398
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Breech presentation, Br... OMIM:614653
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Atrial septal d... OMIM:609053
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Intrauterine growth retardation, Ventricular septal defe... ORPHA:261330
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Heart murmur, Intrauterine growth retardation, Ventricular septal defect ORPHA:166035
Heart And Brain Malformation Syndrome
Polyhydramnios, Growth delay, Ventricular septal defect OMIM:616920
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Ogden Syndrome
Torsade de pointes, Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Pre... OMIM:300855
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Ventricular septal defect ORPHA:261344
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Fetal pericardial effusion, Premature birth, Ventricular septal defect OMIM:219730
Ogden Syndrome
Postnatal growth retardation, Arrhythmia, Cardiogenic shock, Ventricular septal defect ORPHA:276432
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, A... ORPHA:1335
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Short stature, Meningocele OMIM:130720
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia OMIM:222448
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
De Barsy Syndrome
Premature rupture of membranes, Umbilical hernia, Postnatal growth retardation, Intrauterine grow... ORPHA:2962
Limb Body Wall Complex
Amniotic constriction ring, Myelomeningocele, Abnormal heart morphology, Abnormal insertion of um... ORPHA:2369
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Growth delay, Ventricular septal defect, Ca... OMIM:614921
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Diets-Jongmans Syndrome
Umbilical hernia, Ventricular septal defect, Breech presentation, Polyhydramnios, Short stature OMIM:618846
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Intrauterine growth retardation, Oligohydramnios, Ventr... OMIM:611812
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Teebi Hypertelorism Syndrome 1
Short stature, Single umbilical artery, Atrial septal defect, Ventricular septal defect OMIM:145420
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... OMIM:264480
Trisomy 18
Growth delay, Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Spina ... ORPHA:3380
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Ascites, Ventricular septal defect, Thickened nuchal skin fold, Polyhydramnios OMIM:235255
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short stature, Atrial septal defect, Ventricular septal defect ORPHA:261190
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... OMIM:605275
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Postnatal growth retardation, Ventricular septal defect, Perimembranous ventric... OMIM:301040
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:603387
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Umbilical hernia, Mitral regurgitation, Proporti... OMIM:608328
X Small Rings
Oligohydramnios, Mitral stenosis, Ventricular septal defect, Fetal pyelectasis, Bicuspid aortic v... ORPHA:96201
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Growth delay, Single umbilical artery, Ventricular septal defect OMIM:300514
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Opitz Gbbb Syndrome
Growth delay, Ventricular septal defect, Umbilical hernia OMIM:300000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,... ORPHA:99050
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... ORPHA:3384
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septa... OMIM:620663
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Velocardiofacial Syndrome
Short stature, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia OMIM:192430
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Fetal distress, Tricuspid regurgitation, Palpebral edema, Intrauterine grow... OMIM:614866
Developmental Delay With Or Without Dysmorphic Facies And Autism
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertensio... OMIM:618454
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... OMIM:617506
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Acrocardiofacial Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, Ventricular septal defect,... ORPHA:2008
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se... OMIM:100300
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Proportionate short s... ORPHA:488618
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Intrauterine growth retardation, Ventricular septal defect, Dextrocardia... OMIM:614294
Van Esch-O'Driscoll Syndrome
Intrauterine growth retardation, Ventricular septal defect, Pulmonary valve atresia, Atrial septa... OMIM:301030
Alg9-Cdg
Rhizomelia, Thickened nuchal skin fold, Tricuspid regurgitation, Abnormal heart morphology, Oligo... ORPHA:79328
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Reflex asystol... ORPHA:79329
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Telangiectasia of the skin, Spina bifida, Abnormal c... ORPHA:2092
Diamond-Blackfan Anemia 5
Short stature, Ventricular septal defect OMIM:612528
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Short stature, Ventricular septal defect OMIM:615503
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ascites, Postnatal growth retardation, Polyhydramnios, Ventricular septal defect ORPHA:1655
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... ORPHA:209905
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Intrauterine growth retardation, Oligohydramnios, Ve... ORPHA:464311
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect ORPHA:2519
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defe... ORPHA:508498
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Neonatal death, Ventricular septal defect, Dextrocardia... OMIM:619534
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Tetralogy of Fallot, Intraute... ORPHA:567
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Ventricular septal defect, Neonatal death, Atrial septal defect, Short s... OMIM:620024
Renal Agenesis
Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Opitz Gbbb Syndrome
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atr... ORPHA:2745
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... OMIM:190685
Osteopathia Striata With Cranial Sclerosis
Oligohydramnios, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Spina bifida oc... OMIM:300373
3Mc Syndrome 1
Postnatal growth retardation, Ventricular septal defect, Conjunctival telangiectasia, Atrial sept... OMIM:257920
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Proportionate short stature, Ventricular septal defe... OMIM:277600
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Transposition of the great arteries, Ventri... ORPHA:1780
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... ORPHA:2308
Codas Syndrome
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Polyhydramnios, S... OMIM:600373
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Patent foramen ovale, Ventricular septal d... ORPHA:163956
Robinow Syndrome
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:97360
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect ORPHA:1519
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Complete atrioventricular canal defect, Ventricular septal defec... OMIM:236680
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Catel-Manzke Syndrome
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Ventricular sept... OMIM:616145
Hardikar Syndrome
Premature rupture of membranes, Growth delay, Umbilical hernia, Portal hypertension, Patent foram... OMIM:301068
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Intrauterine growth retar... ORPHA:2209
Autosomal Recessive Robinow Syndrome
Disproportionate short-limb short stature, Umbilical hernia, Tetralogy of Fallot, Abnormal pulmon... ORPHA:1507
Diamond-Blackfan Anemia 1
Congestive heart failure, Intrauterine growth retardation, Ventricular septal defect, Atrial sept... OMIM:105650
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... OMIM:274000
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Atrioventricular canal defect, Abnormal heart valve morphology... ORPHA:289
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Intrauterine growth retardation, Oligohydramnios, Ve... ORPHA:464306
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Branchial cyst, Abnormal he... ORPHA:508488
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Tricuspid valve prolapse, ... ORPHA:261337
Syndromic Diarrhea
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... ORPHA:84064
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Umbilical hernia, Bundle branch block, Polyhydramnios, Ventricular septal defect,... ORPHA:373
Larsen Syndrome
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Short stature, ... OMIM:150250
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Pulmonary ... OMIM:602782
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Growth delay, Ventricular septal defect, Umbilical hernia OMIM:613884
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Omodysplasia 1
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Ventricular septal defec... OMIM:258315
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Ventricular septal defect, Arrhythmi... OMIM:309801
Liver Disease, Severe Congenital
Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Intrauterine growth retardation,... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Ventricular septal defect OMIM:620454
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Tetralogy of Fallot, Muscular ventricular septal defect, Intraute... OMIM:210710
Coffin-Siris Syndrome 4
Mitral atresia, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect,... OMIM:614609
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Intrauterine growth retardation, Congenital pulmonary airway malformation, Ventri... ORPHA:436252
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, Birth length l... OMIM:139210
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Rhizomelia, Ventricular hypertrophy, Tricuspid regur... OMIM:143095
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect OMIM:263520
Hajdu-Cheney Syndrome
Short stature, Ventricular septal defect, Umbilical hernia OMIM:102500
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Atrial septal defect, Ventricular septal defect OMIM:610832
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Atrial septal defect, Short stature, Heart murmur, Intracranial hemorr... ORPHA:163979
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Mitral valve prolapse, Ventricular septal defect, Double... OMIM:300166
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Increased nuchal translucency,... ORPHA:3472
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov... ORPHA:904
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal hypertrophy, Intrauterine growth retardation, Oligohydramnios, Ventricular sep... OMIM:608670
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Umbilical hernia ORPHA:1934
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect ORPHA:268249
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... OMIM:218040
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Sho... ORPHA:2473
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Atrioventricular canal defect, Ventricular septal defect, Atrial septal def... ORPHA:3047
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Congestive heart failure OMIM:123700
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Oligohydramnios, Abnormal left ventricle morpho... ORPHA:2729
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Feingold Syndrome 1
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Tricuspi... OMIM:164280
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus... OMIM:157800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, 5-minute APGAR score of 3, Oligohydramnios, Ventricular se... ORPHA:141127
Diamond-Blackfan Anemia
Abnormal heart morphology, Ventricular septal defect, Nonimmune hydrops fetalis, Atrial septal de... ORPHA:124
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Aortopulmonary window, Pulmonary arterial hypertension, Ventricular septal defect OMIM:620025
Mosaic Trisomy 20
Dysplastic tricuspid valve, Intrauterine growth retardation, Abnormal mitral valve morphology, Ve... ORPHA:1724
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular sep... ORPHA:500095
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Viss Syndrome
Coronary sinus enlargement, Umbilical hernia, Fetal distress, Right ventricular hypertrophy, Mitr... OMIM:619472
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Umbilical hernia, Coronary artery stenosis, Intrauterine gr... OMIM:194050
Peters-Plus Syndrome
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Postnatal growth retarda... OMIM:261540
Noonan Syndrome 1
Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Postnatal growth retardation, Ventricular s... OMIM:163950
Femoral-Facial Syndrome
Encephalocele, Ventricular septal defect, Truncus arteriosus, Spina bifida, Short stature, Pulmon... OMIM:134780
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Postnatal growth retardatio... OMIM:214800
Cerebrocostomandibular Syndrome
Polyhydramnios, Postnatal growth retardation, Atrial septal defect, Ventricular septal defect OMIM:117650
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Ventricular septal def... OMIM:312870
Pallister-Hall Syndrome
Umbilical hernia, Atrioventricular canal defect, Intrauterine growth retardation, Oligohydramnios... ORPHA:672
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Ventricular septal defect, Atrial septal defect, Frontal encephaloc... OMIM:268300
Johanson-Blizzard Syndrome
Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Intrauterine growth retardation, Po... OMIM:243800
Digeorge Syndrome
Umbilical hernia, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Short stature OMIM:188400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Growth delay, Ventricular septal defect OMIM:600460
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Atrial septal defect... OMIM:619268
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:618748
Pallister-Killian Syndrome
Aortic valve stenosis, Premature rupture of membranes, Rhizomelia, Umbilical hernia, Hypertrophic... OMIM:601803
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Cephalohematoma, Atrial septal defect, Ventricular septal defect OMIM:620558
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardation, Patent foramen ovale, Ventr... OMIM:216340
Townes-Brocks Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:107480
Penile Agenesis
Oligohydramnios, Fetal pyelectasis, Atrial septal defect, Ventricular septal defect ORPHA:49
Craniofacial Microsomia 1
Tetralogy of Fallot, Branchial anomaly, Occipital encephalocele, Ventricular septal defect OMIM:164210
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardatio... 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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