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Gene: Zswim8 MGI:1919156

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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:
zinc finger SWIM-type containing 8
Synonyms:
4832404P21Rik,  2310021P13Rik

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 Zswim8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zswim8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy OMIM:616277
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... OMIM:620326
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency ORPHA:3346
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Atrial situs ambiguous, Abnorm... ORPHA:244
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Death in childhood OMIM:613759
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent foramen ovale, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of ... ORPHA:1209
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crackles, Dyspnea, ... ORPHA:99931
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Nemaline Myopathy 9
Ventricular septal defect, Respiratory insufficiency OMIM:615731
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency, Abnormal heart morphology OMIM:276950
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effusion, Tachypnea... ORPHA:555874
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr... OMIM:614096
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Atrial septal defect, Neonatal respirator... OMIM:610978
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency ORPHA:1909
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar... OMIM:619003
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Respiratory insuf... OMIM:616276
Peripartum Cardiomyopathy
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... ORPHA:563
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... ORPHA:308552
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Abnormal heart morphology ORPHA:79327
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure ORPHA:171433
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Respiratory failure, Abnormal heart morphology ORPHA:70472
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... OMIM:108900
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal pulmonary valve morphology, Respiratory failure, Abnormal aortic valve... ORPHA:1194
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Respiratory ... ORPHA:1166
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... OMIM:619371
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Asthma, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dilated cardiomyo... ORPHA:352447
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Ventricular septal defect OMIM:616816
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural... ORPHA:60025
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card... ORPHA:444013
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... ORPHA:185
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal d... OMIM:614922
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Cardio... OMIM:310200
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:208530
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Respiratory failure OMIM:618804
Hyperekplexia 4
Respiratory failure OMIM:618011
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:601005
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... OMIM:618278
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Multifocal Atrial Tachycardia
Ventricular septal defect, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal defect, Hypertrop... ORPHA:3282
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation ORPHA:2516
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Meacham Syndrome
Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Pleural effusion, Abnormal pericardium morphology, Respiratory fa... ORPHA:679
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert... OMIM:253700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu... OMIM:115197
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Hypoplastic left ... OMIM:601186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Pul... ORPHA:258
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect OMIM:620210
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Noonan Syndrome 8
Ventricular septal defect, Pleural effusion, Pulmonic stenosis, Atrial septal defect, Hypertrophi... OMIM:615355
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Abnormal heart morphology, Cardiomyopathy, Restrictive ventila... ORPHA:26791
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Dilated cardiomyopathy, Respiratory insufficiency OMIM:609015
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Respiratory failure, Patent foramen ovale OMIM:620327
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Res... OMIM:608836
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir... OMIM:610505
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Congenital Gerbode Defect
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... ORPHA:99095
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Mitral valve prolapse, Atrial... OMIM:612561
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelectasis, Respirat... ORPHA:365
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Grange Syndrome
Ventricular septal defect ORPHA:79094
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, Abnormal heart morphology,... ORPHA:500159
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... OMIM:610338
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of the pulmonary artery, Ventricular septal defect ORPHA:290
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Arterial Tortuosity Syndrome
Respiratory distress, Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Dyspnea, Ca... ORPHA:3342
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr... OMIM:618316
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Perimem... OMIM:600987
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Respiratory failure, Cardiomegaly ORPHA:158687
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Tetralogy of F... ORPHA:99050
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Recurrent upper respiratory tract infections, Ventricular septal defect, Re... OMIM:619769
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Double Outlet Right Ventricle
Ventricular septal defect, Tachypnea, Double outlet right ventricle, Hypoplastic left heart, Pulm... ORPHA:3426
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Cardiomyopathy, Respiratory failure, Respiratory insufficiency ORPHA:746
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormal lung lobation, Conotruncal defect, An... ORPHA:3097
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement OMIM:614022
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Bronchiectasis OMIM:619705
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:249270
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atr... ORPHA:2970
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Roifman Syndrome
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect OMIM:616651
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Intellectual Developmental Disorder, Autosomal Dominant 48
Tracheobronchomalacia, Ventricular septal defect, Recurrent pneumonia, Bicuspid aortic valve OMIM:617751
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
3C Syndrome
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal mitral va... ORPHA:7
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Respiratory insufficiency OMIM:619909
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Holt-Oram Syndrome
Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept... ORPHA:392
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Respiratory failure ORPHA:88618
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasia,... OMIM:616777
Woods Syndrome
Ventricular septal defect OMIM:615236
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:210122
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency OMIM:618329
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
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
Truncus Arteriosus
Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as... ORPHA:3384
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ventricular septal defect, Pneumonia, Episodic tachypnea, Pericardial effus... ORPHA:26793
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Recurrent upper respiratory tract infections, Ventricular septal defect ORPHA:3078
Suleiman-El-Hattab Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen... OMIM:618950
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Pleural effusion, Pulmonary hypoplasia, Hypertrophic car... OMIM:616897
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Heterotaxy, Visceral, 12, Autosomal
Atrial septal defect, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atr... OMIM:619702
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot, Transpositio... ORPHA:1926
Filippi Syndrome
Ventricular septal defect OMIM:272440
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Neonatal asphyxia, Abnormal lung morphology, Dys... ORPHA:141127
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Pulmonary ... OMIM:613426
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart OMIM:618142
Kagami-Ogata Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, Pulmona... OMIM:608149
Cooper-Jabs Syndrome
Ventricular septal defect, Respiratory insufficiency ORPHA:1488
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... OMIM:617478
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Overriding aorta, Ventricular septal defect, Respiratory insuffi... OMIM:617021
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:613870
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... OMIM:619343
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aortic valve a... ORPHA:2299
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respirato... ORPHA:99106
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Abnormal pattern of respiration, Respirat... ORPHA:506
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art... OMIM:615474
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect ORPHA:452
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous p... ORPHA:99104
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... ORPHA:79345
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Endocarditis, Respirator... ORPHA:533
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Neonatal respiratory distress OMIM:618870
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Abnormal lung lobation OMIM:300514
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypoplasia, Atrial septal d... ORPHA:1335
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:615668
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis ORPHA:1908
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Trisomy 13
Atrial septal defect, Ventricular septal defect, Abnormal lung lobation ORPHA:3378
Emanuel Syndrome
Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosi... OMIM:609029
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Pneumothorax, Respiratory insufficiency, Mitral valve ... OMIM:218040
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Congenital pulmona... OMIM:243150
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Miscarriage, Pulmonary artery hypopla... OMIM:245150
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology OMIM:618494
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis... ORPHA:2519
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respi... OMIM:252010
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Boutonneuse Fever
Respiratory failure ORPHA:83313
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Phaver Syndrome
Pulmonary artery atresia, Ventricular septal defect ORPHA:2876
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Ventricular septal defect OMIM:601927
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, P... OMIM:616564
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ve... OMIM:208085
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Emanuel Syndrome
Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosi... ORPHA:96170
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,... OMIM:270100
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Transaldolase Deficiency
Atrial septal defect, Asthma, Ventricular septal defect, Patent foramen ovale OMIM:606003
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Hyperventilation OMIM:618775
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... ORPHA:79404
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Death in childhood OMIM:612938
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Pulmonary arterial hypertension, Ventricular septal defect, Epistaxis ORPHA:369929
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect ORPHA:457193
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Respiratory fa... ORPHA:125
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Asth... OMIM:601808
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Chops Syndrome
Ventricular septal defect, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalaci... OMIM:616368
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Respiratory insufficiency, Respiratory failure, ... OMIM:139210
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Death in childhood OMIM:600460
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:615879
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Death in infancy, Ventricular septal defect OMIM:614576
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal... OMIM:269860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:300963
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Ep... ORPHA:1199
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Respiratory failure, Pulm... ORPHA:805
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Repeated pneumothoraces OMIM:617602
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... OMIM:301056
Cat Eye Syndrome
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... OMIM:115470
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Zellweger Syndrome
Death in infancy, Ventricular septal defect, Respiratory insufficiency ORPHA:912
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Dilated cardiomyopathy, Mitral valve prolapse, Respiratory failure... ORPHA:2556
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Abnormal lung lobation, Subvalvular aortic stenosis OMIM:614114
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Abnormal heart morphology, Cardiomyo... ORPHA:354
Kleefstra Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Dyspnea, Pulm... ORPHA:261494
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Codas Syndrome
Ventricular septal defect ORPHA:1458
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect... ORPHA:96334
Abetalipoproteinemia
Respiratory failure, Cardiomegaly ORPHA:14
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:612582
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale OMIM:620113
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Mosaic Trisomy 16
Ventricular septal defect, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hypopla... ORPHA:1708
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Pulmonary arterial hype... OMIM:614921
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary window, Pulmonary artery... OMIM:620025
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Death in infancy, Respiratory failure OMIM:300868
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Ventricular septal defect, Pulmonary lymphangiectasia OMIM:235255
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Abnormal lung lobation,... ORPHA:99776
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Ventricular septal defect, Apnea, Stridor, Aspiration OMIM:614653
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Char Syndrome
Ventricular septal defect ORPHA:46627
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Pulmonary artery s... OMIM:600001
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... ORPHA:2255
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arter... ORPHA:2008
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Pulmonary lymphang... OMIM:235510
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... ORPHA:371428
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Chylothorax OMIM:153400
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect OMIM:617061
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis ORPHA:52
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... OMIM:100300
Velocardiofacial Syndrome
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Unilateral primary pulm... OMIM:192430
Recombinant 8 Syndrome
Atrial septal defect, Pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:96167
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Ventricular septal defect, Pulmonary hypoplasia, Death in childhood OMIM:214100
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Cerebrocostomandibular Syndrome
Tracheomalacia, Death in infancy, Neonatal respiratory distress, Ventricular septal defect ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:453499
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:254346
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Ventricular septal ... ORPHA:79329
Orofaciodigital Syndrome V
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Combined Oxidative Phosphorylation Deficiency 15
Respiratory arrest, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:300998
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse OMIM:121050
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:612562
Heart And Brain Malformation Syndrome
Ventricular septal defect OMIM:616920
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Carpenter Syndrome 1
Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ... OMIM:201000
Alg9-Cdg
Ventricular septal defect, Pericardial effusion, Asthma, Abnormal lung lobation, Abnormal heart m... ORPHA:79328
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death OMIM:620024
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Tachypnea, Cough, Pulmonary edema ORPHA:137675
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Den Hoed-De Boer-Voisin Syndrome
Recurrent lower respiratory tract infections, Ventricular septal defect, Death in adolescence OMIM:619229
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Par... OMIM:190685
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Double outlet right ventricle, Pulmo... ORPHA:163956
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Abnormal heart morphology, Respiratory failure, Atrial septal defect, E... ORPHA:500150
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema, Ventricular septal defect ORPHA:2962
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Bohring-Opitz Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect OMIM:605039
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:158170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Pulmonary hypoplasia ORPHA:1692
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect OMIM:117550
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... ORPHA:464738
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect OMIM:613309
Trisomy 1Q
Ventricular septal defect ORPHA:261344
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244300
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Joubert Syndrome 14
Ventricular septal defect OMIM:614424
Opitz Gbbb Syndrome
Ventricular septal defect, Tracheomalacia, Abnormal heart morphology, Stridor, Atrial septal defe... ORPHA:2745
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Recurrent upper respiratory tract infections, Airway obstructio... OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect ORPHA:166035
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy... ORPHA:731
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Ventricular septal defect, A... ORPHA:2092
Pallister-Hall Syndrome
Neonatal death, Ventricular septal defect, Abnormal lung lobation OMIM:146510
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... OMIM:602782
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Coffin-Siris Syndrome
Ventricular septal defect, Recurrent upper respiratory tract infections, Abnormal heart morpholog... ORPHA:1465
Robinow Syndrome, Autosomal Dominant 3
Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart OMIM:616894
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:142900
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:84064
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis, Pulmonary art... OMIM:614609
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Tbck-Related Intellectual Disability Syndrome
Respiratory insufficiency, Asthma, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Donnai-Barrow Syndrome
Ventricular septal defect OMIM:222448
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly ORPHA:96191
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Opitz Gbbb Syndrome
Aspiration, Ventricular septal defect OMIM:300000
Eisenmenger Syndrome
Respiratory distress, Ventricular septal defect, Increased pulmonary vascular resistance, Wheezin... ORPHA:97214
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Truncus arteriosus, Ventricular septal de... ORPHA:261330
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect OMIM:244450
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... OMIM:617063
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal pulmonary... ORPHA:1507
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610759
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:263520
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale, Periphe... OMIM:617506
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610443
Trichothiodystrophy
Recurrent bronchopulmonary infections, Bronchospasm, Ventricular septal defect, Cardiomyopathy ORPHA:33364
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Respiratory insufficiency, Aplasi... ORPHA:2162
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart ORPHA:2473
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:130720
C Syndrome
Ventricular septal defect OMIM:211750
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:147791
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:277600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Asthma, Abnormal heart morphology, Aspiration pneumonia, Tracheomalaci... ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Fryns Syndrome
Ventricular septal defect, Stillbirth, Chylothorax, Pulmonary hypoplasia, Atrial septal defect OMIM:229850
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Congenital pulmonary airway malformation ORPHA:436252
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Ventricular septal defect OMIM:619418
Phelan-Mcdermid Syndrome
Ventricular septal defect OMIM:606232
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Ventricular septal defect ORPHA:268249
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Ventricular septal defect, Laryngotracheomalacia, Patent foramen... OMIM:618454
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Death in infancy, Ventricular septal defect, Death in adolescence OMIM:614866
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Atrial septal defe... OMIM:619268
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Fraser Syndrome 2
Respiratory failure OMIM:617666
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Atelectasis, Asthma, Chronic pulm... ORPHA:567
Jacobsen Syndrome
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Hypoplastic left h... ORPHA:2308
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Loeys-Dietz Syndrome 5
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:615582
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency ORPHA:163979
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Recurrent respiratory infections, Atrioventricular canal defect, Ventricula... ORPHA:3047
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... OMIM:280000
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... ORPHA:438213
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect, Stillbirth, Abnormal lung loba... OMIM:236680
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect OMIM:607323
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Phace Association
Ventricular septal defect OMIM:606519
Neu-Laxova Syndrome 1
Ventricular septal defect, Stillbirth, Transposition of the great arteries, Pulmonary hypoplasia,... OMIM:256520
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia OMIM:122470
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, As... ORPHA:353281
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Apnea, Tracheomalacia OMIM:300373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular ... ORPHA:508498
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... ORPHA:363958
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Tracheomalacia ORPHA:96121
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:607721
Goldberg-Shprintzen Syndrome
Ventricular septal defect OMIM:609460
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs... OMIM:619534
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Nocturnal hypoventil... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Nocturnal hypoventil... ORPHA:352665
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect OMIM:300712
Oculodentodigital Dysplasia
Ventricular septal defect ORPHA:2710
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Aortic valve stenosis, Mitral stenosis, Ventricular septal defect ORPHA:955
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal... ORPHA:508488
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Tracheomalacia OMIM:150250
Degcags Syndrome
Ventricular septal defect, Pneumonia, Tracheomalacia, Asthma, Rhinitis, Pulmonic stenosis, Atrial... OMIM:619488
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormal lung lobation, Pulmonary hypoplasia, Atrial septal defect, At... ORPHA:818
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Rubinstein-Taybi Syndrome 1
Respiratory distress, Ventricular septal defect, Respiratory tract infection, Recurrent upper res... OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Respiratory insu... OMIM:210710
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... ORPHA:97360
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect OMIM:618268
Fanconi Anemia, Complementation Group C
Ventricular septal defect OMIM:227645
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect,... OMIM:274000
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:257920
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:608328
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough, Dilatation of... OMIM:619991
Zttk Syndrome
Atrial septal defect, Unilateral lung agenesis, Ventricular septal defect OMIM:617140
Cerebrocostomandibular Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect OMIM:117650
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstructio... OMIM:188400
Alagille Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery... OMIM:118450
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ventricular septal defect ORPHA:464311
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic ... ORPHA:363700
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Ventricula... ORPHA:459070
Noonan Syndrome 1
Ventricular septal defect, Chylothorax, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... OMIM:163950
Smith-Lemli-Opitz Syndrome
Death in infancy, Ventricular septal defect, Abnormal lung lobation, Pulmonary hypoplasia, Atrial... OMIM:270400
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tracheobronchomalacia, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, As... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, As... ORPHA:353277
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... ORPHA:466791
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, ... OMIM:301068
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Ventricular septal defect ORPHA:464306
Viss Syndrome
Atrial septal defect, Ventricular septal defect, Coronary sinus enlargement, Dyspnea, Asthma, Pne... OMIM:619472
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... OMIM:309500
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse ORPHA:500095
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... OMIM:607872
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Simpson-Golabi-Behmel Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Death in infancy ORPHA:373
Microphthalmia, Syndromic 3
Ventricular septal defect OMIM:206900
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... OMIM:157800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve OMIM:271640
Limb Body Wall Complex
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology ORPHA:2369
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... ORPHA:268261
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Diamond-Blackfan Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Asthma, Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis OMIM:620330
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... OMIM:300166
Hajdu-Cheney Syndrome
Ventricular septal defect OMIM:102500
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Diets-Jongmans Syndrome
Ventricular septal defect OMIM:618846
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Pulmonary arterial... ORPHA:3472
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Ventricular septal defect, Abnormal lung lobation, Cardiomyopathy,... OMIM:312870
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis OMIM:105650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Ventricular septal defect, Mitral atresia, Apnea, Muscular ventric... OMIM:619503
Williams Syndrome
Abnormal endocardium morphology, Recurrent respiratory infections, Death in early adulthood, Over... ORPHA:904
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Abnormal heart morp... OMIM:235730
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Pallister-Hall Syndrome
Ventricular septal defect, Abnormal lung lobation, Respiratory insufficiency, Atrial septal defec... ORPHA:672
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Ventricular septal defect ORPHA:513456
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia OMIM:147920
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve OMIM:619475
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:606170
Coffin-Siris Syndrome 1
Atrial septal defect, Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal d... OMIM:135900
Charge Syndrome
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... OMIM:214800
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect OMIM:616682
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ... OMIM:194050
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Sotos Syndrome
Ventricular septal defect, Small cell lung carcinoma, Abnormal heart morphology, Atrial septal de... ORPHA:821
Vater/Vacterl Association
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries OMIM:192350
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect OMIM:615948
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Ulnar-Mammary Syndrome
Ventricular septal defect OMIM:181450
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Ventricular septal defect OMIM:619522
Pallister-Killian Syndrome
Ventricular septal defect, Apneic episodes in infancy, Aortic valve stenosis, Pulmonary hypoplasi... OMIM:601803
Johanson-Blizzard Syndrome
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Death in childhood, At... OMIM:243800
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension,... OMIM:216340
Peters-Plus Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:268300
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonary hypoplasia OMIM:164210

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 Zswim8

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 Zswim8.

No publications found that use IMPC mice or data for Zswim8.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zswim8tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Zswim8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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