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Gene: Slit3 MGI:1315202

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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:
slit guidance ligand 3
Synonyms:
b2b2362.1Clo,  Slit1

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 Slit3 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 Slit3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ventral hernia, Renal agenesis, Ectopia cordis, Congenital diaphragmati... OMIM:313850
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... ORPHA:70589
Holzgreve Syndrome
Hypoplastic left heart, Renal agenesis, Renal hypoplasia OMIM:236110
Pseudomyxoma Peritonei
Respiratory insufficiency, Hernia, Weight loss, Nausea and vomiting, Abdominal pain, Abnormality ... ORPHA:26790
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory distress, Pulmonary hypoplasia, Intes... ORPHA:2140
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Exertional dyspnea,... ORPHA:254361
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Failure to thrive,... ORPHA:60032
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Abdomina... ORPHA:2357
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... OMIM:618845
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Horseshoe kidney, Omphalocele, Tetralogy of Fallot, Increased ur... OMIM:613630
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, W... ORPHA:141152
Asbestos Intoxication
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Diffus... ORPHA:2302
Hirschsprung Disease
Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,... ORPHA:388
Constricting Bands, Congenital
Bladder exstrophy, Omphalocele, Gastroschisis, Ectopia cordis OMIM:217100
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Malabsorption, Abdominal pain, Jaundice, Elevated hepatic transaminase, C... ORPHA:131
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Nasogastric tube feeding in infancy, High palate, Poor suck, Abnormality of the liver, Ventilator... ORPHA:254864
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Gastroesophageal reflux, Camptodactyly of finger, Increased variabilit... OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Poor suck, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... OMIM:300580
Pleural Mesothelioma
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... ORPHA:50251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough ORPHA:64741
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... ORPHA:77260
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Diarrhea, Pleural empyema, Weight loss, Liver abscess, Abdominal pain, Elevated ... ORPHA:67
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Abnor... OMIM:601163
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Weight loss, Abnormality of the gastrointestinal tract, Asthma, Abnorm... ORPHA:2902
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Pulmonary sequestration, Mitral stenosis... ORPHA:2847
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Poor suck, Feeding difficulties in infancy, Respiratory distress, Myopathy, Apneic episodes preci... OMIM:605809
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of F... OMIM:615542
Neuronal Intestinal Pseudoobstruction
Malabsorption, Congenital diaphragmatic hernia ORPHA:99811
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... OMIM:193250
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the liver, Nausea and vomiting, Abdominal pain, Intes... ORPHA:543
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, A... ORPHA:2869
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, High palate, Wrist drop, Diaphragmatic eventr... OMIM:620011
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Renal hypoplasia, Pulmo... OMIM:612946
Perching Syndrome
High palate, Camptodactyly, Respiratory distress, Dysphagia, Feeding difficulties, Joint contracture OMIM:617055
Myasthenic Syndrome, Congenital, 6, Presynaptic
Poor suck, Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2... OMIM:254210
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Intestinal obstruction, Dysphag... ORPHA:183
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pulmonary insufficiency, Pneumothorax, Abn... ORPHA:70588
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abnormal intestine morphol... OMIM:226300
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Acute Interstitial Pneumonia
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing... ORPHA:79126
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Cleft palate, Abnormality of the pulmonary artery, Congenital diaphrag... ORPHA:1166
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, Unilateral renal agenesis, Hypoplastic left heart, Renal hypoplasia, Ch... OMIM:617661
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic he... ORPHA:139466
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Feeding difficulties i... ORPHA:238329
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Malignant Peritoneal Mesothelioma
Weight loss, Abdominal pain, Abdominal distention, Dyspnea, Peritonitis, Ileus ORPHA:168811
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Schisis Association
Small for gestational age, Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hern... ORPHA:63862
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Bloody diarrhea, Enterocolitis, Jejunal atresia, Recurrent respiratory infecti... OMIM:243150
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis ORPHA:3033
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, High palate, Exer... ORPHA:399103
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Respiratory failure, Recurrent viral uppe... OMIM:619773
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:610978
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu... OMIM:613490
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub... OMIM:614377
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Elevated hepatic transaminase, Respiratory distress, Hypertrophic cardiom... OMIM:613561
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... OMIM:616974
X-Linked Centronuclear Myopathy
High palate, Poor suck, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smal... ORPHA:596
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... ORPHA:70587
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... OMIM:601186
Verheij Syndrome
Renal cyst, Renal agenesis, Renal hypoplasia, Abnormal cardiac septum morphology OMIM:615583
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Inguinal ... OMIM:208530
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Hereditary Amyloidosis With Primary Renal Involvement
Gastroesophageal reflux, Intestinal perforation, Vomiting, Diarrhea, Petechiae, Abnormality of th... ORPHA:85450
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus OMIM:616589
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Nausea... ORPHA:44890
Desmoid Tumor
Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem... ORPHA:873
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Pulmonary hypop... ORPHA:2470
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Spinal muscular atrophy, Feeding difficulties in infancy, Ventilator d... ORPHA:254875
13Q12.3 Microdeletion Syndrome
Vomiting, Recurrent respiratory infections, Camptodactyly, Congenital diaphragmatic hernia, Failu... ORPHA:412035
Limb Body Wall Complex
Abdominal wall defect, Ventral hernia, Diastasis recti, Ventricular septal defect, Abnormality of... ORPHA:2369
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss, Respiratory distress, Tracheoesophageal fistula... ORPHA:142
Burn-Mckeown Syndrome
Ventricular septal defect, Hypomimic face, Unilateral renal agenesis, Atrial septal defect, Ingui... OMIM:608572
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ventricular septal defect, Secundum atrial septal defect, Hypoplastic l... OMIM:618901
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Flexion contracture, Decreased body weight, Muscle fiber atrophy, Myos... ORPHA:258
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Arthrogryposis mult... OMIM:613404
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal ob... ORPHA:2591
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Failure to thrive, Myopathy, Feeding difficulties, Cardi... ORPHA:26792
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Skeletal muscle hypertroph... OMIM:613327
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Small for gestational age, Anal atresia, Congenital diaphragmatic hernia, Cle... ORPHA:95706
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia OMIM:254120
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive, Low-output congestive heart... ORPHA:91130
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Myotubular Myopathy With Abnormal Genital Development
High palate, Centrally nucleated skeletal muscle fibers, Respiratory distress, Myopathy, Feeding ... OMIM:300219
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Hepatic failure, Flexion contracture, Cirrhosis, Abnormal muscle glyco... ORPHA:367
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Gastroschisis, Ventricular septal defect ORPHA:2476
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Failure ... ORPHA:91359
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress OMIM:619099
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Diarrhea, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obst... ORPHA:411703
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, Recurrent ... OMIM:263000
Radiation Proctitis
Abnormal gastrointestinal vascular morphology, Abnormality of connective tissue, Diarrhea, Abnorm... ORPHA:70475
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Tetralogy of Fallot, Micropenis OMIM:617926
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 19
Gastroesophageal reflux, Increased variability in muscle fiber diameter, Elevated circulating ala... OMIM:615595
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect ORPHA:2256
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... ORPHA:324604
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly OMIM:246560
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Knee flexion contracture, High palate, Poor suck, Hip contracture, Spi... ORPHA:1145
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Cooper-Jabs Syndrome
Respiratory insufficiency, Camptodactyly of finger, Anteriorly placed anus, Congenital diaphragma... ORPHA:1488
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal dysplasia, Hypertrophy of the urinary bladder, Renal hypoplasia, Omphalocele, Urethral obst... OMIM:601389
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Anal atresia, Inguinal he... ORPHA:2063
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Gastroesophageal reflux, Splenomegaly, Congestive heart failure,... ORPHA:2414
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti... ORPHA:79127
Ppoma
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Weight loss, ... ORPHA:97278
Cryptogenic Organizing Pneumonia
Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Anorexia, Crackles, Restrictive venti... ORPHA:1302
Carney-Stratakis Syndrome
Weight loss, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gast... ORPHA:97286
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Purpura, Intestinal obstruction, Gastroi... ORPHA:343
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Congenital diaphragmatic hernia, Proteinuria, Renal insufficiency... OMIM:166300
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... OMIM:178500
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Left ventricular outflow tract obstruction, Flexion contracture, Feedi... ORPHA:365
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis ORPHA:251076
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Grfoma
Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ... ORPHA:97261
Scimitar Syndrome
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... ORPHA:185
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Patent foramen ovale, Aminoaciduria, Ventricular septal defect, Renal tubu... OMIM:208085
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Cystic Fibrosis
Biliary cirrhosis, Diarrhea, Bronchiectasis, Hepatosplenomegaly, Decreased forced expiratory flow... OMIM:219700
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Myopathy, Renal hypoplasia, Renal insufficie... OMIM:614922
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Weight loss, Nausea and vomiting, Abdominal pain, Cachexia, Neoplasm of the... ORPHA:83469
Waardenburg-Shah Syndrome
Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Constipation, Intestinal ob... ORPHA:897
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
15Q24 Microdeletion Syndrome
Hernia, Small for gestational age, Anal atresia, Congenital diaphragmatic hernia, Failure to thri... ORPHA:94065
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... ORPHA:244
Emanuel Syndrome
Gastroesophageal reflux, High palate, Torticollis, Anal atresia, Recurrent sinusitis, Intestinal ... OMIM:609029
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Respiratory distress, Congenital diaphragmatic hernia, Cleft palate, Feeding difficu... OMIM:606164
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Ventricular septal defect, Truncus arteriosus OMIM:601355
Congenital Hypothyroidism
Hypotension, Feeding difficulties in infancy, Macroglossia, Abdominal distention, Hypertension, T... ORPHA:442
Even-Plus Syndrome
Patent foramen ovale, Vesicoureteral reflux, Recurrent urinary tract infections, Atrial septal de... OMIM:616854
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Farber Disease
Respiratory insufficiency, Hepatic failure, Flexion contracture, Nodular pattern on pulmonary HRC... ORPHA:333
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:615297
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect,... OMIM:618494
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Trunc... ORPHA:284180
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Congenita... OMIM:263210
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Feeding d... ORPHA:45452
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension, Respi... OMIM:616733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Pulmonary insufficiency, Exe... ORPHA:2032
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Inguinal hernia, Small thenar eminence, Joint contracture of the 5th finger... OMIM:618914
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Congestive heart failure, D... OMIM:619751
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Dysphagia, F... OMIM:300978
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Hypertrophic cardiomyopathy, Reduced re... OMIM:619902
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Atrial septal defect, Hepatosplenom... OMIM:267010
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Somatostatinoma
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Weight loss, ... ORPHA:97283
Granulomatosis With Polyangiitis
Respiratory insufficiency, Angina pectoris, Pericarditis, Intestinal obstruction, Weight loss, Ab... ORPHA:900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, H... OMIM:604273
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Renal agenesis, Hypospadias, Renal hypoplasia, Micropenis, Umbilical he... ORPHA:171839
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Renal agenesis, Atrial septal defect, Coarctation of aorta, Dextrocard... OMIM:264480
Secondary Intestinal Lymphangiectasia
Cirrhosis, Vomiting, Increased stool alpha1-antitrypsin concentration, Intussusception, Malabsorp... ORPHA:90363
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hypertrophic cardiomyopathy, Ketonuria OMIM:619053
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... OMIM:234810
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Rig... OMIM:614261
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Atelectasis, Morgagni diaphragmatic hernia, Pyloric stenosis, Pulmonary ... OMIM:613177
Laryngotracheal Angioma
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Feeding difficult... ORPHA:137935
Avian Influenza
Pulmonary infiltrates, Vomiting, Pneumothorax, Diarrhea, Productive cough, Rhabdomyolysis, Hepati... ORPHA:454836
Castleman Disease
Restrictive cardiomyopathy, Weight loss, Abnormality of the gastrointestinal tract, Nausea and vo... ORPHA:160
Gastroschisis
Gastroschisis ORPHA:2368
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... OMIM:252011
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Renal agenesis, Ectopic kidney, Renal hypoplasia, Pulmonic stenosis OMIM:212780
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Flexion contracture, Malabsorption, Asthma, Small for gestational age, Intestinal... OMIM:601675
Vacterl Association With Hydrocephalus
Renal hypoplasia, Abnormal heart morphology OMIM:276950
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... OMIM:306955
Emanuel Syndrome
Gastroesophageal reflux, High palate, Multiple joint contractures, Ectopic anus, Bifid uvula, Ana... ORPHA:96170
Igg4-Related Aortitis
Asthma, Abdominal pain, Intestinal obstruction, Weight loss ORPHA:449400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital di... ORPHA:1120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Vomiting, Microvesicular hepatic ste... OMIM:212140
Shigellosis
Bloody diarrhea, Tenesmus, Pneumonia, Acute colitis, Splenic abscess, Abdominal pain, Purpura, Ul... ORPHA:810
Mullegama-Klein-Martinez Syndrome
Cleft palate, Failure to thrive, Congenital diaphragmatic hernia OMIM:301022
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vomiting, Diarrhea, Cellulitis, Pleuritis, Abdominal pain, Fasciitis, Recurrent pharyngitis, Brui... ORPHA:32960
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Feeding difficulties, Aplasia of the left hemidiaphragm OMIM:618238
Bardet-Biedl Syndrome 16
Bronchiolitis, Obesity, Respiratory distress, Recurrent respiratory infections OMIM:615993
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... ORPHA:60033
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, High palate, Poor suck, Macroglossia, Inguinal hernia, Cleft palate... OMIM:614608
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Repeated pneumothoraces, Chronic constipation, Camptodactyly, Anal atresia, Intestin... OMIM:617602
Zygomycosis
Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Hematemesi... ORPHA:73263
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Halperin-Birk Syndrome
Gastroesophageal reflux, Flexion contracture, High palate, Aspiration, Pseudobulbar paralysis, In... OMIM:618651
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Facial diplegia, Failure to thrive, Skeletal muscle atrophy, Facial paralysis, D... OMIM:613559
Cebalid Syndrome
Congenital diaphragmatic hernia, Feeding difficulties, High palate OMIM:618774
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Midshaft hypospadias, Renal hypoplasia/aplasia... ORPHA:2863
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Dextrocardia, Hyp... OMIM:173800
Glucagonoma
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Weight loss, ... ORPHA:97280
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Vomiting, Constipation, Feeding difficulties OMIM:617450
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... ORPHA:308552
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Arthrogryposis multiplex congenita OMIM:236500
Acute Lung Injury
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... ORPHA:178320
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Weight loss, Cachexia, Respiratory distress, Failure to thrive, Feeding diffi... OMIM:612075
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Respiratory distress OMIM:616341
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Congenital Disorder Of Glycosylation, Type Iu
High palate, Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, ... OMIM:615042
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Autosomal Recessive Spondylocostal Dysostosis
Respiratory insufficiency, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic her... ORPHA:2311
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:618022
Zollinger-Ellison Syndrome
Peptic ulcer, Episodic abdominal pain, Extrahepatic cholestasis, Multiple lipomas, Diarrhea, Duod... ORPHA:913
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Hor... OMIM:609053
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Lower limb muscle weakness, Calf muscle hypertrophy, Muscular edema, ... ORPHA:268
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Recurrent upper respiratory tract infections, Intestinal obstruction, Chronic ... OMIM:600802
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Supravalvular aortic stenosis, Inguinal hernia, Congenital diaphragmatic hernia, Recur... OMIM:219100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Inguina... OMIM:614376
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Marden-Walker Syndrome
Decreased muscle mass, Joint contracture of the hand, Camptodactyly, Inguinal hernia, Hypospadias... OMIM:248700
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Lymphoid Interstitial Pneumonia
Bronchiectasis, Crackles, Multiple pulmonary cysts, Hepatomegaly, Decreased DLCO, Wheezing, Weigh... ORPHA:79128
1Q41Q42 Microdeletion Syndrome
Cleft palate, Pulmonary hypoplasia, Submucous cleft hard palate, Congenital diaphragmatic hernia ORPHA:250999
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, High palate ORPHA:1520
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Axial muscle stiffness, Respiratory distress ORPHA:240085
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Hepatomegaly, Feeding difficultie... ORPHA:26793
Seckel Syndrome 9
Asthma, Small for gestational age, Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, ... OMIM:616777
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Renal hypop... OMIM:617660
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Exstrophy-Epispadias Complex
Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the abdominal wall, Abnormality of... ORPHA:322
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Micropenis, Prune belly, Ventricular septal defect OMIM:618504
Lujo Hemorrhagic Fever
Hypotension, Diarrhea, Elevated hepatic transaminase, Shock, Crackles, Dysphagia, Nonproductive c... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Telangiectasia, Muscular dystrophy, Camptodactyly, Respiratory distress... OMIM:608799
Neuroendocrine Neoplasm Of Appendix
Hypotension, Elevated hepatic transaminase, Palpitations, Hepatomegaly, Adenocarcinoma of the col... ORPHA:100079
Congenital Fibrinogen Deficiency
Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... OMIM:612387
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Vacterl/Vater Association
Anorectal anomaly, Abnormality of the pancreas, Aplasia/Hypoplasia of the lungs, Abnormality of t... ORPHA:887
Familial Mediterranean Fever
Diarrhea, Nausea and vomiting, Malabsorption, Pleuritis, Abdominal pain, Pancreatitis, Pericardit... ORPHA:342
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Decreased body mass index, Failure to thrive ORPHA:370079
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Elev... OMIM:265450
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Abnormal onset of bleeding, Myocardial infarction, Cerebral ischemia ORPHA:3325
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Sanjad-Sakati Syndrome
Myopathy, Intestinal obstruction, Recurrent respiratory infections, Abnormal dental enamel morpho... ORPHA:2323
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Vomiting, Dependency on intravenous nutrition, Recurrent respiratory infections, Malabsorption, I... ORPHA:37042
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress, Median cleft lip and palate ORPHA:1832
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Staphylococcal Necrotizing Pneumonia
Hypotension, Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hyp... ORPHA:36238
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hernia, Hydronephrosis ORPHA:1745
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Respiratory distress OMIM:617977
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect OMIM:263630
Arterial Tortuosity Syndrome
Flexion contracture, High palate, Ischemic stroke, Bifid uvula, Hypertension, Bruising susceptibi... OMIM:208050
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
Chronic Beryllium Disease
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal respi... ORPHA:133
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Congenital d... OMIM:194080
Lowry-Maclean Syndrome
Midgut malrotation, Abnormality of the abdominal organs, Pyloric stenosis, Inguinal hernia, Conge... ORPHA:2409
Porphyria Variegata
Abnormality of the liver, Respiratory paralysis, Abdominal pain, Scarring, Hepatocellular carcino... ORPHA:79473
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... OMIM:617478
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral berry aneurysm, Renal... OMIM:173900
Intellectual Disability-Strabismus Syndrome
Gastroesophageal reflux, Congenital finger flexion contractures, High palate, Joint contracture o... ORPHA:363528
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism, Portal vein thrombosis ORPHA:82
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Respiratory distress, Large ... ORPHA:226313
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Atelectasis ORPHA:896
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal localization of kidney, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Urethral atresia, Enlarged kidney, Dextrocardia, Persistent left s... OMIM:314390
Adams-Oliver Syndrome 5
Patent foramen ovale, Splenomegaly, Inguinal hernia, Right ventricular hypertrophy, Right atrial ... OMIM:616028
Lambert Syndrome
Inguinal hernia, Hypospadias, Ventricular septal defect ORPHA:1296
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Intermittent diarrhea, Hernia, Aplasia/Hypoplasia of the ... ORPHA:2255
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... ORPHA:98915
Combined Oxidative Phosphorylation Defect Type 7
Gastrostomy tube feeding in infancy, Lower limb muscle weakness, Paralytic ileus, Facial diplegia... ORPHA:254930
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Tongue atrophy, Hand muscle atrophy, Respir... OMIM:211530
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Hepatomegaly, Abnormal P wave, Feeding difficulties, Wheezing, T... ORPHA:1329
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Cellulitis, Abnormal bleeding, Respiratory distres... ORPHA:238459
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Pyloric stenosis, Congenital diaphragmatic hernia, Failure to thrive, Cl... ORPHA:261197
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Hernia of the abdominal wall, Anomalous pulmonary venous return, Abnorm... ORPHA:2184
Fryns Syndrome
Gastroesophageal reflux, High palate, Ectopic anus, Aganglionic megacolon, Anal atresia, Pulmonar... ORPHA:2059
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Feeding difficulties, Respiratory distress OMIM:300934
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... OMIM:612949
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Pentalogy Of Cantrell
Abnormal pericardium morphology, Ventricular septal defect, Renal dysplasia, Renal agenesis, Atri... ORPHA:1335
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small thenar eminence, Hyd... OMIM:613390
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... OMIM:615415
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Cleft palate, Congenital diaphragmatic hernia, Abnormality of mes... ORPHA:2075
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Abdominal pain, Pancreatitis, Respiratory distress, Anorexia, Failure to thr... ORPHA:79312
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Tracheomalacia, Obesity, Umbilical hernia ORPHA:1001
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress ORPHA:1423
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Constipation, Intestinal obstruction, Dysphagia OMIM:606764
Diamond-Blackfan Anemia 10
Cleft palate, Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia OMIM:613309
Poliomyelitis
Hypotension, Vomiting, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Paralytic... ORPHA:2912
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Donnai-Barrow Syndrome
Diaphragmatic eventration, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, ... OMIM:222448
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Pulmonary artery ... OMIM:611812
Cocaine Intoxication
Hypotension, Bloody diarrhea, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventric... ORPHA:90068
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal... OMIM:616276
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Vomiting, Respiratory distress OMIM:237310
Cach Syndrome
Renal hypoplasia, Flexion contracture, Arthrogryposis multiplex congenita, Hepatosplenomegaly ORPHA:135
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... OMIM:614954
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Meacham Syndrome
Conotruncal defect, Ventricular septal defect, Crossed fused renal ectopia, Hypoplasia of penis, ... ORPHA:3097
Penile Agenesis
Cloacal abnormality, Absent penis, Ventricular septal defect, Bilateral renal agenesis, Urethral ... ORPHA:49
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, High palate, Irregular respiration, Cardiac arres... OMIM:604377
8P23.1 Microdeletion Syndrome
High palate, Weight loss, Hypertrophic cardiomyopathy, Congenital diaphragmatic hernia, Pulmonary... ORPHA:251071
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrha... ORPHA:99931
Trisomy 1Q
Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal ... ORPHA:261344
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... OMIM:115197
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Secundum atrial septal defect, Umbilical hernia, Absence of renal corticomedull... OMIM:619758
Acute Intermittent Porphyria
Respiratory insufficiency, Diarrhea, Respiratory paralysis, Nausea and vomiting, Pseudobulbar par... ORPHA:79276
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... ORPHA:2516
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Pleural e... ORPHA:2038
Focal Dermal Hypoplasia
Camptodactyly of finger, Gastroesophageal reflux, Diastasis recti, Hernia, Aplasia/Hypoplasia of ... ORPHA:2092
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Vascular dilatation, Crossed fused renal ectopia, Ventricular septal defec... OMIM:607323
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Ectopic kidney, Abnormal hea... ORPHA:401935
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Respiratory paralysis, Paralytic ileus, Abdominal pain, Hepatocellular carcin... OMIM:176000
Cystic Fibrosis
Meconium ileus, Gastroesophageal reflux, Cirrhosis, Pneumothorax, Recurrent respiratory infection... ORPHA:586
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Esophageal Atresia
Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchitis, Respi... ORPHA:1199
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Gastroesophageal reflux, Foot joint contracture, Mucosal telangi... ORPHA:220402
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
White-Sutton Syndrome
Gastroesophageal reflux, High palate, Poor suck, Bifid uvula, Congenital diaphragmatic hernia, Fa... OMIM:616364
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Colon perforation, Microcolon, Intest... OMIM:600001
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Atrial Standstill
Flexion contracture, Ischemic stroke, Muscular dystrophy, Left ventricular noncompaction, Skeleta... ORPHA:1344
Auriculocondylar Syndrome 2
Respiratory distress, Apnea, Snoring, Microglossia, Cleft palate, Feeding difficulties, Glossoptosis OMIM:614669
Bresek Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia ORPHA:85284
Syndromic Diarrhea
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... ORPHA:84064
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Abnormal lung lobation, Pulmonary hypoplasia, Trac... ORPHA:958
Czeizel-Losonci Syndrome
High palate, Pulmonary hypoplasia, Tracheoesophageal fistula, Posterolateral diaphragmatic hernia... ORPHA:2437
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hypoglossia With Situs Inversus
Asplenia, High palate, Feeding difficulties in infancy, Polysplenia, Respiratory distress, Malnut... OMIM:612776
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... OMIM:212093
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Respiratory distress, Inguinal hernia, Failure to t... OMIM:619272
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Inguinal hernia, Hydronephrosis OMIM:613735
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:618454
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Ele... ORPHA:210136
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... OMIM:244400
Lymphangioleiomyomatosis
Pulmonary infiltrates, Pneumothorax, Abdominal pain, Emphysema, Restrictive ventilatory defect, D... ORPHA:538
Meckel Syndrome 12
Renal hypoplasia, Arthrogryposis multiplex congenita, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Limb hypertonia, Facial hypotonia, ... OMIM:617595
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Nipah Virus Disease
Hypotension, Nausea and vomiting, Recurrent pharyngitis, Respiratory distress, Anorexia, Cough ORPHA:99825
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Supraventricular arrhythmia, Elevated hepatic transaminase, Hepa... ORPHA:3260
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... ORPHA:217563
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal amyotrophy, Feeding difficul... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal amyotrophy, Feeding difficul... ORPHA:98914
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Weight loss, Hypoxemia, Ground-glass opacification, Restrictive ventilator... ORPHA:90060
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, High palate, Decreased muscle mass, Generalized amyotrophy, Respiratory dist... OMIM:271225
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, High palate, Paroxysmal atrial fibrillation, Weig... OMIM:164310
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:616730
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasi... ORPHA:2326
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Microvesicular hepatic steatosis, Diarrhea, Hepatocellular necrosis, H... OMIM:618278
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Umbilical hernia ORPHA:85321
Joubert Syndrome 18
Renal cyst, Horseshoe kidney, Camptodactyly, Ventricular septal defect OMIM:614815
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... OMIM:617056
White-Sutton Syndrome
Gastroesophageal reflux, Ventral hernia, High palate, Abnormality of the gastrointestinal tract, ... ORPHA:468678
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ... OMIM:611773
Myotonic Dystrophy 1
Feeding difficulties in infancy, Respiratory distress, Facial diplegia, Dysphagia, Atrial flutter... OMIM:160900
Multiple Pterygium Syndrome, Escobar Variant
Knee flexion contracture, Flexion contracture, High palate, Multiple joint contractures, Diaphrag... OMIM:265000
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pulmonary edema, Centrilobula... ORPHA:199241
Perlman Syndrome
Volvulus, Large for gestational age, Congenital diaphragmatic hernia, Pancreatic islet-cell hyper... OMIM:267000
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Contractures of the large joints, High palate, Elevated hepatic transaminase, Respiratory distres... ORPHA:329178
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Gastroesophageal reflux, High palate, Anal atresia, Large for gestational age, Pulmonary hypoplas... OMIM:614080
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Liver abscess, Pleural effusion, Recurrent pneumonia, Rectal abscess, Cough, Air bron... OMIM:306400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Ketonuria, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventr... OMIM:619167
Pneumocystosis
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Weight loss, Combined c... ORPHA:723
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Transposition ... ORPHA:1913
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Cerebral ischemia, Poor appetite, Reye syndrome-like episodes, Respiratory di... ORPHA:927
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Renal hypoplasia OMIM:616817
Zaki Syndrome
Patent foramen ovale, Renal agenesis, Congenital diaphragmatic hernia, Hydronephrosis OMIM:619648
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Renal cyst, Polyuria, Situs inversus totalis, Dextrocardia, Micro... OMIM:615994
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Pulmonary hypoplasia, High palate, Congenital diaphragmatic hernia OMIM:612530
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmati... ORPHA:1692
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Gastroesophageal reflux, Cirrhosis, Usual interstitial pneumonia, Reticular pattern on pulmonary ... OMIM:614742
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia, Dilation of Virchow-Robin spaces OMIM:619955
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Gastroesophageal reflux, Pulmonary infiltrates, Flexion contract... ORPHA:220393
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Respiratory distress OMIM:618201
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... ORPHA:84081
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Hypospadias, Ventricular septal defect, Atrial septal defect OMIM:618330
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:619189
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Dilated cardiomyopathy, Ectopic kidney, Inguinal hernia, Renal hypopla... OMIM:616541
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, C... OMIM:249270
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricular septal defect, Pulm... ORPHA:99095
Waardenburg Syndrome
Aganglionic megacolon, Intestinal obstruction, Aplasia/Hypoplasia of the colon, Abnormality of th... ORPHA:3440
Fetal Alcohol Syndrome
Cleft palate, Congenital diaphragmatic hernia ORPHA:1915
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Lobulated tongue, Periportal fibrosis, Pulmonary hypoplasia, Median cl... OMIM:269860
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, High palate, Exertional dyspnea, Respiratory distress, Increased intramyocel... OMIM:220110
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Thakker-Donnai Syndrome
Tracheoesophageal fistula, Congenital diaphragmatic hernia, Rectovaginal fistula, Anal atresia ORPHA:1780
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Malaria
Respiratory distress, Nausea and vomiting ORPHA:673
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic rig... OMIM:618142
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Renal hypoplasia, Bilateral renal agenesis OMIM:617914
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Cough, Cleft palate, Recurrent respiratory infections, Atelectasis ORPHA:2314
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Opitz Gbbb Syndrome
High palate, Ectopic anus, Recurrent aspiration pneumonia, Feeding difficulties in infancy, Ankyl... ORPHA:2745
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Vesicoureteral reflux, Ventricular septal defect, Arthrogryposis m... OMIM:301056
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Hepatitis, Failure to thrive, Chronic diarrhea, Ileus OMIM:304790
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Vascular dilatation, Ventricular septal defect OMIM:219730
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Volvulus, Aganglionic megacolon, A... ORPHA:210122
12Q14 Microdeletion Syndrome
Renal hypoplasia, Skeletal muscle atrophy, Horseshoe kidney, Ectopic kidney ORPHA:94063
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... ORPHA:488618
Duplication Of Urethra
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... ORPHA:237
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Renal tubular dysfunction, Atrial septal... OMIM:614886
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma, Splenomegaly, Lipoma OMIM:612918
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Vesicoureteral reflux, Microphallus, Atrial septal defect, Pelvic kidne... OMIM:603467
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Feeding difficulties, Lipoatrophy, Respiratory distress ORPHA:261304
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor, Dysphagia ORPHA:97285
Sepsis In Premature Infants
Hypotension, Decreased body weight, Diarrhea, Hepatomegaly, Decreased liver function, Splenomegal... ORPHA:90051
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Ventricular septal defect, Renal tub... OMIM:118450
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress, Eunuchoid habitus, Dysphagia ORPHA:98805
Ulnar-Mammary Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia of the pectoralis major muscle, Hypop... ORPHA:3138
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Diarrhea, Hepatocellular carcinoma, Reye syndrome-like episodes, Hepatic steatosis, Hepatomegaly,... OMIM:256810
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:614676
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Cellulitis, Recurrent pneumonia, Sinusitis, Parotiti... ORPHA:51636
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Al Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Abnormal P wave, Pulmonary interstitial hig... ORPHA:85443
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Constipation, Ileus ORPHA:52503
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Mckusick-Kaufman Syndrome
Patent ductus arteriosus, Urogenital sinus anomaly, Multicystic kidney dysplasia, Ventricular sep... ORPHA:2473
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Chromosome 15Q25 Deletion Syndrome
Dilatation of renal calices, Ventricular septal defect, Abnormal cardiac septum morphology, Coron... OMIM:614294
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect ORPHA:228399
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Splenomegaly, Microcolon, Abdominal pain, Aganglionic megacolon, Constipation, Hepatomegaly, Arrh... ORPHA:163746
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, High palat... ORPHA:3309
Marden-Walker Syndrome
Camptodactyly of finger, Renal dysplasia, Aplasia/Hypoplasia involving the skeletal musculature, ... ORPHA:2461
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Toxic Epidermal Necrolysis
Sudden cardiac death, Intestinal perforation, Abnormal pleura morphology, Recurrent respiratory i... ORPHA:537
Pallister-Hall Syndrome
Patent ductus arteriosus, Ventricular septal defect, Renal dysplasia, Hydroureter, Renal cyst, Ec... OMIM:146510
Multiple Carboxylase Deficiency
Feeding difficulties, Limb muscle weakness, Respiratory distress, Tachypnea ORPHA:148
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Jaundice, Congestive heart failure, Respiratory distress, Failure to t... OMIM:615512
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava with no bridging vein, ... OMIM:618460
Polycythemia Vera
Respiratory insufficiency, Pulmonary embolism, Weight loss, Abdominal pain, Intermittent claudica... ORPHA:729
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, High palate, Poor suck, Chronic constipation, Respiratory distress, Hypertro... OMIM:619383
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Ventricular septal defect, Elbow flexion contracture, Abnormal umbilicus m... OMIM:122470
Acquired Methemoglobinemia
Vomiting, Abdominal pain, Syncope, Hypoxemia, Respiratory distress, Palpitations, Dyspnea, Arrhyt... ORPHA:464453
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Recurrent urinary tract infections, Unilater... OMIM:613680
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Oromandibular Dystonia
Torticollis, Respiratory distress, Weight loss, Dysphagia ORPHA:93958
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... ORPHA:563
Mercury Poisoning
Hypotension, Episodic abdominal pain, Interstitial pneumonitis, Respiratory distress, Episodic vo... ORPHA:330021
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... ORPHA:2299
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Dentinogenesis imperfecta, High palate, Multiple joint contractures, R... ORPHA:536467
Trisomy 18
Camptodactyly of finger, Narrow palate, Hernia, Esophageal atresia, Cachexia, Anal atresia, Conge... ORPHA:3380
Tyrosinemia, Type I
Hepatic failure, Cirrhosis, Paralytic ileus, Hepatocellular carcinoma, Elevated hepatic transamin... OMIM:276700
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Gastroesophageal reflux, Persistent fetal circulation, Hernia, P... ORPHA:363705
Holoprosencephaly
Respiratory insufficiency, Gastroesophageal reflux, Failure to thrive in infancy, Aplasia/Hypopla... ORPHA:2162
Dextrocardia
Abnormality of the ureter, Situs inversus totalis, Dextrocardia, Abnormal heart morphology, Conge... ORPHA:1666
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Vomiting, Respiratory distress, Dilated cardiomyopathy, Hypertrophic c... OMIM:614299
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Ventricular septal defect, Atrial septal defect OMIM:618067
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect OMIM:314320
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Omphalo... OMIM:601927
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Anal atresia, Anteriorly placed anus, Congenital diaphragmatic herni... OMIM:309801
Cerebral Creatine Deficiency Syndrome 1
Vomiting, Feeding difficulties in infancy, Aganglionic megacolon, Failure to thrive, Prolonged QT... OMIM:300352
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... ORPHA:261183
Bronchial Neuroendocrine Tumor
Hypotension, Hepatic failure, Abnormal pulmonary interstitial morphology, Facial telangiectasia, ... ORPHA:97287
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... OMIM:137920
Congenital Myopathy 17
Distal arthrogryposis, Diaphragmatic eventration, Myopathy, Ureteropelvic junction obstruction, R... OMIM:618975
Relapsing Polychondritis
Recurrent aphthous stomatitis, Large vessel vasculitis, Hepatitis, Purpura, Pericarditis, Anterio... ORPHA:728
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Asplenia, Pulmonary hypoplasia, Anal atresia, Congenital dia... OMIM:273395
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Urethral stenosis, Te... ORPHA:1727
Stt3B-Cdg
Failure to thrive, Feeding difficulties, Respiratory distress ORPHA:370924
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilical hernia ORPHA:254534
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary insufficiency, High palate, Pulmonary artery dilatation, Emp... OMIM:614437
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... ORPHA:141127
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Tularemia
Pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pleural... ORPHA:3392
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Gaucher Disease, Perinatal Lethal
Hepatic failure, Splenomegaly, Decreased body weight, Petechiae, Purpura, Respiratory distress, P... OMIM:608013
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:3369
Moebius Syndrome
High palate, Feeding difficulties in infancy, Bifid uvula, Camptodactyly, Respiratory distress, F... OMIM:157900
Fructose-1,6-Bisphosphatase Deficiency
Vomiting, Diarrhea, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy... ORPHA:348
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary... OMIM:178600
Pagod Syndrome
Sudden cardiac death, Pulmonary hypoplasia, Abnormality of the pulmonary artery, Pulmonary artery... ORPHA:991
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Feeding difficulties, Respiratory distress OMIM:615597
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... OMIM:616652
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Flexion contracture, Gastrostomy tube feeding in infancy, Respiratory distress, Inguinal hernia, ... ORPHA:544503
Bacterial Toxic-Shock Syndrome
Hypotension, Myocarditis, Vomiting, Respiratory tract infection, Diarrhea, Cellulitis, Hepatitis,... ORPHA:36234
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:616546
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Flexion contracture, Cerebral hemorrhage, Small for gestational age, P... ORPHA:666
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Tracheomalacia, Congenital diaphragmatic hernia ORPHA:268249
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias OMIM:614091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Congenital megaureter, Hydroureter, Unilateral renal dysplasia, Atrial sept... ORPHA:280633
Cerebrofacioarticular Syndrome
Camptodactyly, Hypospadias, Abnormal heart morphology, Renal hypoplasia, Pulmonic stenosis ORPHA:314679
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... ORPHA:411709
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Respiratory distress, Dyspnea, Respiratory failure, Recurrent r... ORPHA:2759
Episodic Ataxia Type 1
Calf muscle hypertrophy, Nausea, Respiratory distress ORPHA:37612
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... ORPHA:75249
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Vomiting, Respiratory distress, Failure to thrive, Hepatomegaly, Pancreati... OMIM:251000
Restrictive Dermopathy 2
Gastroesophageal reflux, Feeding difficulties, Rectal prolapse, Respiratory distress OMIM:619793
Sick Sinus Syndrome 2
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:163800
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Noonan Syndrome 9
Pulmonic stenosis, Hydroureter, Ventricular septal defect, Coarctation of aorta OMIM:616559
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of the anus, Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyopath... ORPHA:2556
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Ureteral stenosis, Dextrocardia, Abnormal pulmonary artery morphol... ORPHA:2257
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:618348
Diaphanospondylodysostosis
Cleft palate, Respiratory distress ORPHA:66637
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:99050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Patent foramen ovale, Pulmonary valve atresia, Diastasis recti, Ve... OMIM:265380
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta ORPHA:1923
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Interstitial Lung And Liver Disease
Respiratory insufficiency, Hepatic failure, Vomiting, Intraalveolar phospholipid accumulation, Ab... OMIM:615486
Meckel Syndrome, Type 4
Renal cyst, Ventricular septal defect, Atrial septal defect OMIM:611134
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... ORPHA:99105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis, Omphalocele, Umbili... ORPHA:2241
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Hereditary Angioedema Type 1
Hypotension, Vomiting, Diarrhea, Abnormal uvula morphology, Intestinal edema, Abdominal pain, Res... ORPHA:100050
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Cat Eye Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Renal agenesis, Atria... OMIM:115470
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Torticollis, Long-segment aganglionic megacolon, Hepatosplenomegaly, Short... OMIM:609136
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Cellulitis, Congestive heart failure, Internal hem... ORPHA:90308
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Bowel incontinence, Cleft palate, Splenomegaly, Abnormal dental ... ORPHA:567
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter... ORPHA:3092
Shwachman-Diamond Syndrome 1
Small for gestational age, Elevated hepatic transaminase, Respiratory distress, Steatorrhea, Fail... OMIM:260400
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Respiratory distress, Hepatomegaly, Nausea and vomiting ORPHA:289916
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Gastroesophageal reflux, Increased variability in muscle fiber diameter, Vomiting, Flexion contra... ORPHA:17
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Abnormality of the liver, Weight loss, H... ORPHA:781
Wolcott-Rallison Syndrome
Double outlet right ventricle, Renal insufficiency, Atrial septal defect, Chronic kidney disease ORPHA:1667
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Renal cyst, Inguinal hernia, Abnormal vena cava morphology, Horseshoe ... ORPHA:166035
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Diarrhea, Elevated hepatic transaminase, Pleural effusion, Sh... ORPHA:340
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pulmonary edema, T-wave inversion, ST segment depression, Macroglossia, Respiratory ... OMIM:261740
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Hypoplasia of penis, Ventricular septal defect ORPHA:2772
Inhalational Anthrax
Hypotension, Vomiting, Respiratory distress, Internal hemorrhage, Dyspnea ORPHA:247257
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Feeding difficulties, Respiratory distress, Dysphagia ORPHA:89844
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Holocarboxylase Synthetase Deficiency
Weight loss, Nausea and vomiting, Respiratory distress, Anorexia, Tachypnea ORPHA:79242
Cockayne Syndrome Type 3
Aortic root aneurysm, Hydronephrosis, Flexion contracture, Renal insufficiency, Urinary retention... ORPHA:90324
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... ORPHA:1770
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti, Leiomyosarcoma, Large intestinal polyposis, Feeding difficulties in... ORPHA:116
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary arterial hypertension, Aortopulmonary window, Diaphragmatic eventration, Pulmonary hypo... OMIM:620025
Mosaic Trisomy 9
Patent ductus arteriosus, Hydronephrosis, Camptodactyly of finger, Ventricular septal defect, Ren... ORPHA:99776
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Horseshoe kidney, Hypospadias, Ventricular septal defect OMIM:218350
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Meckel Syndrome 13
Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Tetanus
Abdominal pain, Respiratory distress, Hypertension, Dysphagia, Bowel incontinence, Bradycardia, T... ORPHA:3299
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Renal tubular dysfunction ORPHA:37553
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Calcinosis, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Splenomegal... OMIM:617913
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress, Abdominal distention ORPHA:79097
Cardiomyopathy, Dilated, 2D
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... OMIM:619371
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Hereditary Hemorrhagic Telangiectasia
Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary embolism, Transient ischemic attack, C... ORPHA:774
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Large vessel vasculitis, Acute kidney injury, Dysuria, Renal ... ORPHA:49041
Diets-Jongmans Syndrome
Feeding difficulties in infancy, Inguinal hernia, Congenital diaphragmatic hernia, Duodenal atres... OMIM:618846
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Hypop... ORPHA:7
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618974
Alveolar Echinococcosis
Pancreatic cysts, Pulmonary cyst, Vomiting, Biliary cirrhosis, Abnormal skeletal muscle morpholog... ORPHA:284
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, Mu... ORPHA:373
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Upper airway obstruction, Respiratory distress, Abnormal capillary physiology ORPHA:100057
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Infantile Krabbe Disease
Gastroesophageal reflux, Nasogastric tube feeding in infancy, Vomiting, Cachexia, Respiratory dis... ORPHA:206436
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Abnormal P ... ORPHA:99106
Braddock-Carey Syndrome 1
Aortic valve prolapse, Multicystic kidney dysplasia, Camptodactyly, Ventricular septal defect OMIM:619980
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Respiratory failure, Femoral hernia, Cardiac arrest, Pyloric stenosis, R... ORPHA:3342
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
7Q11.23 Microduplication Syndrome
High palate, Chronic constipation, Tracheomalacia, Inguinal hernia, Congenital diaphragmatic hern... ORPHA:96121
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Poor suck, Respiratory distress, Congestive heart failure, Dilated cardiomyo... ORPHA:70474
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Elbow flexion contracture, Mitral valve prolapse, Le... OMIM:245600
Choanal Atresia
Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abnormal nasal... ORPHA:137914
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
3-Methylglutaconic Aciduria, Type Viib
Tube feeding, Flexion contracture, Abnormal bleeding, Congestive heart failure, Respiratory distr... OMIM:616271
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Recurrent bronchopulmonary infections, Congestive heart failure, Macroglossi... OMIM:617303
Iniencephaly
Anal atresia, Congenital diaphragmatic hernia, Omphalocele, Duodenal atresia, Arthrogryposis mult... ORPHA:63259
Mogs-Cdg
Hypoventilation, High palate, Pulmonary edema, Chronic constipation, Left ventricular hypertrophy... ORPHA:79330
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypospadias, Micropenis,... OMIM:617516
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Vesicoureteral ref... ORPHA:163956
Kabuki Syndrome
Crossed fused renal ectopia, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypopl... ORPHA:2322
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, Lung absces... OMIM:610910
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:329224
Idiopathic Pulmonary Arterial Hypertension
Abnormality of connective tissue, Right ventricular hypertrophy ORPHA:275766
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Omphalocele, Renal cyst, Renal hypoplasia OMIM:616300
Cryptococcosis
Cirrhosis, Vomiting, Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, D... ORPHA:1546
Distal Tetrasomy 15Q
Patent ductus arteriosus, Nephroblastoma, Flexion contracture, Abnormality of the kidney, Polycys... ORPHA:314588
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Laryngotracheoesophageal Cleft
Aspiration, Impaired oropharyngeal swallow response, Cough, Dyspnea, Stridor, Neonatal respirator... ORPHA:2004
Wolf-Hirschhorn Syndrome
Hernia, Aplasia/Hypoplasia of the lungs, Abnormality of the gallbladder, Congenital diaphragmatic... ORPHA:280
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality o... ORPHA:289
Chitayat Syndrome
Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res... OMIM:617180
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Stomatitis, Respiratory distress, Hepatomegaly, Pulmonary fibrosis, Failure to thrive in infancy,... OMIM:612852
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology OMIM:608776
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiomyopathy, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, A... ORPHA:2131
Diaphanospondylodysostosis
Respiratory insufficiency, Abnormal liver lobulation, Respiratory distress, Tracheomalacia, Pulmo... OMIM:608022
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertion, Hepatom... ORPHA:60025
Axial Osteomalacia
Renal cyst, Myopathy OMIM:109130
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Diarrhea, Rhabdomyolysis, Nausea and vomit... ORPHA:509
8P Inverted Duplication/Deletion Syndrome
Contractures of the large joints, Small hypothenar eminence, Dextrocardia, Abnormal heart morphol... ORPHA:96092
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Fryns Syndrome
Joint contracture of the hand, Esophageal atresia, Aganglionic megacolon, Polysplenia, Camptodact... OMIM:229850
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal neoplasm, Renal cyst, Cutaneous leiomyosarcoma OMIM:135150
Gm1 Gangliosidosis
Patent ductus arteriosus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:354
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Aplasia of posterior communicating artery, Neurogenic bla... OMIM:613686
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septa... OMIM:612562
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... OMIM:263200
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomiting, Achal... ORPHA:1018
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Jaundice, Pulmonary hypoplasia, Respiratory distress, Hepatic steatosis, Nausea, Hepato... OMIM:231680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Ventricular septal defect, Atrial septal defect ORPHA:49827
Williams Syndrome
Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Abn... ORPHA:904
Renpenning Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Phimosis, Camptodactyly, Atrial septal ... OMIM:309500
Distal Monosomy 15Q
Bifid tongue, Mitral stenosis, Small for gestational age, Pulmonary hypoplasia, Congenital diaphr... ORPHA:1596
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Hypoplasia of penis, Hypospadias, Dextrocardia, Hydronephrosis ORPHA:2315
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect OMIM:602501
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Microglossia, Cleft palate, Aglossia OMIM:202650
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Micropenis, Coarctation of aorta OMIM:618929
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Inguinal hernia, Horseshoe kidney, Bladder ex... OMIM:600057
Craniofrontonasal Syndrome
Cleft palate, Congenital diaphragmatic hernia, Umbilical hernia OMIM:304110
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Bifid tongue, Abnormality of the gallbladder, Feeding difficulties in in... ORPHA:818
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... ORPHA:57777
Multiple Osteochondromas
Hemothorax, Pneumothorax, Intestinal obstruction, Dysphagia ORPHA:321
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Stag... OMIM:614527
Poland Syndrome
Vesicoureteral reflux, Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia, Atrial s... ORPHA:2911
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Ventricular septal defect, Increased urine alpha-ketoglutarate concentr... OMIM:220500
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragm... OMIM:200980
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... OMIM:208540
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Hepatitis, Abnormal bleeding, Respiratory distress, Pleural effusio... ORPHA:292
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Nocardiosis
Vomiting, Pneumothorax, Productive cough, Cellulitis, Weight loss, Pleuritis, Liver abscess, Resp... ORPHA:31204
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Kleefstra Syndrome
Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Hypoplasia of penis, Mac... ORPHA:261494
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Hypoplasia of penis, Ventricular septal defect ORPHA:2328
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Vomiting, Poor suck, Respiratory distress, Apnea, Failure to thrive, Hyp... OMIM:618426
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Hiat... OMIM:619769
Diamond-Blackfan Anemia 5
Hypospadias, Ventricular septal defect OMIM:612528
Giant Cell Arteritis
Abdominal aortic aneurysm, Hematuria, Pericarditis, Aortic dissection, Renal insufficiency, Doubl... ORPHA:397
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Ventricular septal defect, Renal dysplasia, Renal malrotation, Mitr... OMIM:617107
Trisomy 13
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormality of the ure... ORPHA:3378
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Dilated cardiomyopathy, Episodic vomiting, Apnea, Hypertrophic cardiomyopathy, F... ORPHA:255210
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect OMIM:601357
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Restrictive cardiomyopathy, Hydroureter, Renal cyst, Ureteral stenosis,... OMIM:615398
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Bilateral renal hypoplasia, Hepatomegaly OMIM:619695
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Inguinal hernia, Hydroneph... OMIM:618950
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Dyspnea, Respiratory failure, Feeding difficulties, High... ORPHA:2707
Noonan Syndrome 8
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ... OMIM:615355
Joubert Syndrome 20
Renal cyst OMIM:614970
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Hepatomegaly, Cleft palate, Splenomegaly, Narro... OMIM:312870
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias, Camptodactyly OMIM:601390
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Aspiration, Respira... OMIM:618733
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Omphalocele, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Flexion contracture, Hernia, Macroglossia, Recurrent gastroenter... ORPHA:505248
Kniest Dysplasia
Hip contracture, Respiratory distress, Tracheomalacia, Inguinal hernia, Cleft palate, Umbilical h... OMIM:156550
Aymé-Gripp Syndrome
Camptodactyly, Pericarditis, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate ORPHA:1272
Nasolacrimal Duct Cyst
Poor suck, Abnormal breath sound, Cellulitis, Intercostal retractions, Paroxysmal dyspnea, Strido... ORPHA:141083
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, High palate, Feeding difficulties in infancy, Respiratory ... ORPHA:314655
Diamond-Blackfan Anemia 1
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tricuspid stenosis, Renal ... OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Umbilica... OMIM:617751
Van Maldergem Syndrome 2
Renal hypoplasia, Inguinal hernia, Hypospadias, Micropenis OMIM:615546
Degcags Syndrome
Patent ductus arteriosus, Patent foramen ovale, Abnormal renal cortex morphology, Ventricular sep... OMIM:619488
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Ventricular septal defect, Renal agenesis, Unilateral renal agenesis, A... OMIM:270400
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Abnormality of the anus, Conge... ORPHA:1308
Williams-Beuren Syndrome
Flexion contracture, Coronary artery stenosis, Retinal arteriolar tortuosity, Peripheral pulmonar... OMIM:194050
Phakomatosis Pigmentokeratotica
Nephroblastoma, Unilateral renal hypoplasia, Renal transitional cell carcinoma, Rhabdomyosarcoma ORPHA:2874
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Charge Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Facial palsy,... OMIM:214800
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Left ventricular hypertrophy, Biventricular hype... OMIM:615474
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect,... OMIM:617159
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis, Renal insufficiency, Cardiomyopathy ORPHA:445038
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Ethylene Glycol Poisoning
Hypotension, Vomiting, Pulmonary edema, Facial palsy, Congestive heart failure, Hypertension, Sho... ORPHA:31826
Trisomy 17P
Patent ductus arteriosus, Flexion contracture, Polycystic kidney dysplasia, Hypoplasia of penis, ... ORPHA:261290
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transami... OMIM:617156
Oculocerebrorenal Syndrome Of Lowe
Respiratory insufficiency, Gastroesophageal reflux, Narrow palate, Atelectasis, Malabsorption, Fe... ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Knee flexion contracture, Patent foramen ovale, Flexion contracture, Hip contracture, Ventricular... OMIM:210710
Coach Syndrome 1
Multiple small medullary renal cysts, Vascular dilatation, Stage 5 chronic kidney disease, Unilat... OMIM:216360
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Ventricular septal defect, Urethral valve, R... OMIM:107480
Distal Trisomy 5Q
Hypospadias, Dextrocardia, Ventricular septal defect ORPHA:96097
Brachydactyly, Type B1
Micropenis, Camptodactyly, Ventricular septal defect, Joint contracture of the hand OMIM:113000
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Rhabdomyolysis, Stage 5 chronic kidney disease, Polycystic kidney d... ORPHA:157
Townes-Brocks Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Abnormal cardiac septum morpholo... ORPHA:857
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Hypospadias, Absent pu... OMIM:600460
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Inguinal hernia, Abnormal loca... ORPHA:1988
Kagami-Ogata Syndrome
Patent ductus arteriosus, Diastasis recti, Flexion contracture, Ventricular septal defect, Atrial... OMIM:608149
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Digeorge Syndrome
Gastroesophageal reflux, High palate, Atelectasis, Asthma, Bifid uvula, Recurrent sinusitis, Chro... OMIM:188400
Okamoto Syndrome
Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ... ORPHA:2729
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Gastroesophageal reflux, Camptodactyly, Congenital diaphragmatic hernia, Contracture of the proxi... OMIM:301044
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Hydroureter, ... OMIM:201000
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma OMIM:262850
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Nausea and vomiti... ORPHA:228116
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect ORPHA:452
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Methylmalonic Aciduria, Cblb Type
Vomiting, Feeding difficulties in infancy, Respiratory distress, Failure to thrive, Hepatomegaly OMIM:251110
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Eisenmenger Syndrome
Aortopulmonary window, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palp... ORPHA:97214
Listeriosis
Myocarditis, Vomiting, Diarrhea, Rhabdomyolysis, Hepatic granulomatosis, Liver abscess, Abdominal... ORPHA:533
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Gastroesophageal reflux, Respiratory failure, Respiratory distre... OMIM:616482
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect ORPHA:261190
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Proteinuria, Hematuria, Ventricular septal defect OMIM:616901
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory di... OMIM:184260
Orotic Aciduria
Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Renal hypoplasia, Atrial septal defect OMIM:620005
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Abnormality of the pancreas, Narrow palate, Hypertension, Respiratory distress, Anteriorly placed... ORPHA:1555
Stromme Syndrome
Myopathy, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Chronic kidney disease OMIM:615630
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Japanese Encephalitis
Vomiting, Diarrhea, Respiratory paralysis, Pulmonary edema, Irregular respiration, Abdominal pain... ORPHA:79139
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Cystathioninuria, Atrial septal defect, Dextrocardia, Methylmalonic aci... OMIM:277380
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri... ORPHA:99103
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Congenital diaphragmatic hernia, Failure to thrive, Mitral regurgitation... OMIM:157800
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Facial palsy, Uret... ORPHA:107
Mgat2-Cdg
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Reflex asystolic syncope, Abnormal ... ORPHA:79329
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Vesicoureteral reflux, Ventricular septa... ORPHA:508488
Coffin-Siris Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Hydroureter, Atrial septal defect, Ectopic k... OMIM:135900
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Right aortic arch, Micropenis, Facial palsy OMIM:147770
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Persistent fetal circulation, Submucous cleft hard palate, Respiratory distress, Ant... OMIM:612863
Methylmalonic Aciduria, Cbla Type
Vomiting, Feeding difficulties in infancy, Respiratory distress, Failure to thrive, Hepatomegaly OMIM:251100
Odontochondrodysplasia
Dentinogenesis imperfecta, Respiratory distress ORPHA:166272
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hernia, Respiratory distress, Tracheomalacia, Anteriorly placed anus, Neonatal respiratory distre... OMIM:217980
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Ventricular septal defect, Muscle fiber atrophy, Type... OMIM:619542
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Polycystic kidney dysplasia, Increased intramyocellular lipid droplets, Lacticaci... ORPHA:26791
Tatton-Brown-Rahman Syndrome
Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:615879
Meckel Syndrome, Type 10
Renal cyst, Hypospadias, Camptodactyly, Micropenis OMIM:614175
Woods Syndrome
Ventricular septal defect OMIM:615236
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Acute Transverse Myelitis
Paralytic ileus, Hypertension, Upper limb muscle weakness, Constipation, Distal lower limb muscle... ORPHA:139417
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Joubert Syndrome 14
Renal cyst, Intracranial hemorrhage, Ventricular septal defect OMIM:614424
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Asthma, Respiratory ... ORPHA:209905
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Proximal tubulopathy, Ventricular septal defect, Unilateral renal agene... OMIM:614576
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Necrotizing Enterocolitis
Gastroschisis, Abnormal heart morphology ORPHA:391673
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Decreased body weight, Impaired oropharyngeal swallow response, Central sleep a... OMIM:615273
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:301043
Cystic Echinococcosis
Renal cyst, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Abnormality of the diaphragm,... ORPHA:400
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:300963
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... OMIM:618223
Meier-Gorlin Syndrome 1
Gastroesophageal reflux, Flexion contracture, High palate, Joint contracture of the hand, Small f... OMIM:224690
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Monosomy 9P
Cleft palate, High palate, Congenital diaphragmatic hernia, Hernia ORPHA:261112
Acrofacial Dysostosis 1, Nager Type
Cleft palate, Velopharyngeal insufficiency, Aganglionic megacolon, Congenital diaphragmatic hernia OMIM:154400
Congenital Rubella Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect ORPHA:290
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect, Pelvic kidney, Peri... OMIM:613001
Auriculocondylar Syndrome
Bifid uvula, Respiratory distress, Snoring, Microglossia, Cleft palate, Feeding difficulties, Ham... ORPHA:137888
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... OMIM:300166
Pachyonychia Congenita
Failure to thrive, Feeding difficulties, Respiratory distress, Oral leukoplakia ORPHA:2309
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia OMIM:619995
Acrocardiofacial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Hypoplas... ORPHA:2008
Coccidioidomycosis
Pulmonary infiltrates, Parenchymal consolidation, Abnormality of the liver, Pleural empyema, Cere... ORPHA:228123
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Renal insufficiency OMIM:181270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Knee flexion contracture, Renal dysplasia, Enlarged kidney, P... OMIM:608836
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Hypocapnia, Bronchiectasis, Abnormal EKG,... ORPHA:980
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiom... OMIM:616897
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Protuberant abdomen OMIM:617102
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Facial hypotonia, High palate, Respiratory distress ORPHA:438216
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... ORPHA:2929
Cockayne Syndrome
Urinary incontinence, Enamel hypoplasia, Contractures of the large joints, Limb hypertonia, Nephr... ORPHA:191
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Tracheomalacia, Respiratory distress, Intestinal malrotation, Cleft pa... ORPHA:93259
Spastic Paraplegia Type 2
Bowel incontinence, Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... OMIM:249420
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Torticollis, Macroglos... OMIM:617022
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Umbilical hernia OMIM:612938
Filippi Syndrome
Ventricular septal defect OMIM:272440
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, Ventricular septal defect, Mul... ORPHA:500095
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Pyloric stenosis, Respiratory distress, Recurrent pneumonia, Inguinal ... OMIM:613848
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... ORPHA:2237
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Multicystic kidney dysplasia OMIM:618829
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus, Wrist flexion contracture, Knee flexion contractu... OMIM:121050
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney, Ventricular septal defect OMIM:250410
Tetraamelia Syndrome 2
Micropenis, Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Familial Chylomicronemia Syndrome
Episodic abdominal pain, Pulmonary embolism, Recurrent pancreatitis, Decreased body weight, Peria... ORPHA:444490
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Skeleta... OMIM:603387
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology, Flexion contracture, Ventricular septal defect ORPHA:79243
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Lymphangiectasis, Proximal tubulopathy OMIM:602579
Cornelia De Lange Syndrome
Gastroesophageal reflux, High palate, Volvulus, Feeding difficulties in infancy, Pyloric stenosis... ORPHA:199
Ramos-Arroyo Syndrome
Decreased body weight, Feeding difficulties in infancy, Chronic constipation, Aganglionic megacol... ORPHA:1051
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure, High, narrow p... ORPHA:3015
Meckel Syndrome, Type 2
Renal cyst, Omphalocele OMIM:603194
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Inguinal hernia, Double aortic arch, Pulmonar... OMIM:192430
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Noonan Syndrome 4
Hydronephrosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Pul... OMIM:610733
Focal Dermal Hypoplasia
Enamel hypoplasia, Telangiectasia, Diastasis recti, Intestinal malrotation, Anteriorly placed anu... OMIM:305600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... ORPHA:369891
Crimean-Congo Hemorrhagic Fever
Hypotension, Diarrhea, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural ... ORPHA:99827
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Unilateral renal agenesis OMIM:614083
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Umbilical hernia, Lower limb hypertonia OMIM:169400
Behçet Disease
Pulmonary infiltrates, Pulmonary embolism, Recurrent aphthous stomatitis, Cerebral ischemia, Naus... ORPHA:117
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Vesicoureteral reflux, Ventricular septal defect, Recurrent urinary tract infections, Hypospadias... OMIM:619103
Kawasaki Disease
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Sterile pyuria, ... ORPHA:2331
Colchicine Poisoning
Hypotension, Vomiting, Diarrhea, Hypovolemia, Cardiogenic shock, Respiratory distress, Congestive... ORPHA:31824
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular septal defect, At... OMIM:158170
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Gastrostomy tube feeding in infancy, Pyloric stenosis... ORPHA:83617
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... OMIM:600987
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Ventricular septal defect, Joint contracture of the hand, Pericardial effu... OMIM:235510
Witteveen-Kolk Syndrome
Gastroesophageal reflux, High palate, Small for gestational age, Feeding difficulties in infancy,... OMIM:613406
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Renal agenesis, Coarctation of aorta, Microp... OMIM:300514
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Tracheomalacia, Respiratory distress, Intestinal malrotation, Cleft pa... ORPHA:93260
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Ventricular septal defect, Elbow contracture, Contracture of the proxim... OMIM:617201
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Hypospadias, Hypoplasia of penis, Ventricular septal defect ORPHA:77298
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Nephrolithiasis, Intracranial hemorrhage, Ventricular septal defect ORPHA:369929
Mandibulofacial Dysostosis, Guion-Almeida Type
Feeding difficulties in infancy, Respiratory distress, Cleft palate, Esophageal atresia OMIM:610536
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... OMIM:181000
Fanconi Anemia, Complementation Group N
Nephroblastoma, Ventricular septal defect OMIM:610832
Knobloch Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Dextrocardia, Bifid ureter ORPHA:1571
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal dysplasia, Mitral stenosis, Coarctation of aorta, Renal cyst OMIM:617260
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Atrial septal defect ORPHA:2519
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Pseudoaminopterin Syndrome
Asplenia, Nasogastric tube feeding in infancy, High palate, Poor suck, Inguinal hernia, Posterola... ORPHA:221120
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Joint contracture of the hand, Camptodactyly, Contracture of the proxi... OMIM:280000
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Inguinal hernia,... OMIM:235255
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the tricuspid valve, Left ven... ORPHA:466791
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hydronephrosis ORPHA:457193
Lymphatic Malformation 7
Pulmonary edema, Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax OMIM:617300
Kinsship Syndrome
Renal hypoplasia, Horseshoe kidney OMIM:619297
Chronic Graft Versus Host Disease
Flexion contracture, Pneumothorax, Diarrhea, Bronchiectasis, Fasciitis, Elevated hepatic transami... ORPHA:99921
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Ventricular septal defect, Recurrent urinary tract infections, Hypospadias... ORPHA:2438
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Crossed fused renal ectopia, Truncus arteriosus, Renal dysplasia, R... ORPHA:2538
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... ORPHA:99104
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Atrial septal defect, Inguinal hernia, Hypospadias, Hydronephrosis OMIM:616449
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch... ORPHA:2876
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Contracture of th... OMIM:619472
Fraser Syndrome 1
Renal hypoplasia/aplasia, Abnormal umbilicus morphology, Hypospadias, Abnormal heart morphology, ... OMIM:219000
Phace Association
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... OMIM:606519
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Hypospadias, Vesicoureteral reflux, Ventricular septal defect ORPHA:494344
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:301039
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:612582
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... OMIM:601808
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Contractures of the large joints, Ventricular septal defect ORPHA:3078
C Syndrome
Patent ductus arteriosus, Omphalocele, Renal cortical cysts, Ventricular septal defect OMIM:211750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Restrictive cardiomyopathy, Congenital megaureter, Renal dysplasia, Atr... ORPHA:369837
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Polycystic kidney dysplasia, Camptodactyly, Abnorma... OMIM:214110
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Diastasis recti, Renal cortical cysts, Nephrocalcinosis, E... OMIM:130650
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Floating-Harbor Syndrome
Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic kidney dysplasia,... ORPHA:2044
Kapur-Toriello Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Joint contracture o... OMIM:244300
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Recombinant 8 Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Abnormality of the ... ORPHA:96167
Codas Syndrome
Hydroureter, Ventricular septal defect ORPHA:1458
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Anal atresia, Respiratory distress, Cleft palate, Feeding difficulties, Recurrent re... OMIM:300968
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Flexion contracture, Nephrotic syndrome, Pericardial effusion, Pericarditis... OMIM:212065
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Vomiting, Esophageal stricture, Pneumothorax, Respiratory distress, Dilated ca... ORPHA:79404
Opitz Gbbb Syndrome
Vesicoureteral reflux, Ventricular septal defect, Congenital posterior urethral valve, Inguinal h... OMIM:300000
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Bicuspid aortic valve, Aortic aneurysm, ... ORPHA:536545
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Hypos... ORPHA:464311
Kasabach-Merritt Syndrome
Petechiae, Abdominal pain, Purpura, Respiratory distress, Abdominal distention, Hepatic hemangiom... ORPHA:2330
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Multicystic kidney dysplasia, Embryonal rhabdomyosarcoma, Atrial septal defect, R... OMIM:257300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Ogden Syndrome
Inguinal hernia, Torticollis, Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Chand Syndrome
Cleft palate, Bifid tongue, Atelectasis ORPHA:1401
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Secondary Short Bowel Syndrome
Atherosclerosis, Gastroschisis ORPHA:95427
Gitelman Syndrome
Abnormal T-wave, Diarrhea, Rhabdomyolysis, Nausea and vomiting, Abdominal pain, Prominent U wave,... ORPHA:358
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Jaundice, Stomatitis, Glossitis, Respiratory... ORPHA:79282
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Ventric... OMIM:605275
Lateral Meningocele Syndrome
Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect, Neurogenic bladder, B... OMIM:130720
Zellweger Syndrome
Hypospadias, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis ORPHA:912
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly, Coarctation of aorta, Inguinal hernia, Dextrocardia, Ov... OMIM:616145
Tyshchenko Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615102
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Inguinal hern... ORPHA:1655
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:606003
Genitopatellar Syndrome
Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Atrial septal defect, Ar... ORPHA:85201
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... ORPHA:1505
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Ascending aorta hypoplasia, El... OMIM:619503
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Jaundice, Respiratory distress, Myocardial infarction, Prolonged neona... OMIM:274150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Respiratory distress, Protuberant abdomen OMIM:151210
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab... ORPHA:2973
Alagille Syndrome
Ventricular septal defect, Nephrotic syndrome, Renal hypoplasia/aplasia, Atrial septal defect, Ab... ORPHA:52
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect, Polycystic kidney dysplasia, Renal cyst, Ing... OMIM:102500
Hyperparathyroidism, Transient Neonatal
Gastroesophageal reflux, Splenic cyst, Respiratory distress, Inguinal hernia, Feeding difficultie... OMIM:618188
Classic Homocystinuria
Pulmonary embolism, High palate, Hernia, Cerebral ischemia, Subcutaneous hemorrhage, Elevated hep... ORPHA:394
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Pallister-Killian Syndrome
Flexion contracture, Bifid uvula, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Cleft palate... OMIM:601803
Adnp Syndrome
Gastroesophageal reflux, Vomiting, Gastrostomy tube feeding in infancy, Aspiration, Chronic const... ORPHA:404448
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... OMIM:113650
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Ventricular septal defect, Epispadias, Atrial septal defect, Unilateral... OMIM:615948
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Bifid uvula, Submucous cleft hard palate, Respiratory distress, Failure ... ORPHA:2554
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618870
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Flexion contracture, Micropenis OMIM:619321
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux, Bicuspid aortic valve, Inguinal hernia, Partial anomalous pulmonary venous... OMIM:150230
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Respiratory distress ORPHA:990
Peters-Plus Syndrome
Patent ductus arteriosus, Diastasis recti, Ventricular septal defect, Atrial septal defect, Hypos... OMIM:261540
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Ventricular septal defect, Multiple joint contractures, Unilateral rena... ORPHA:464306
Schinzel-Giedion Syndrome
High palate, Gastrostomy tube feeding in infancy, Aganglionic megacolon, Annular pancreas, Campto... ORPHA:798
Floating-Harbor Syndrome
Congenital posterior urethral valve, Atrial septal defect, Coarctation of aorta, Mesocardia, Ingu... OMIM:136140
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Omphalocele, Ventricular septal defect, Atrial septal defect OMIM:145420
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm, Rhabdomyo... ORPHA:35125
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Plague
Hypotension, Bloody diarrhea, Vomiting, Enterocolitis, Diarrhea, Splenomegaly, Abdominal pain, Ab... ORPHA:707
Noonan Syndrome 10
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... OMIM:616564
Tuberous Sclerosis 1
Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangio... OMIM:191100
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Abnormal aortic morphology, Multicystic kidney dysplasia, Ventricular se... ORPHA:1507
Mosaic Trisomy 16
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... ORPHA:1708
Chops Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:616368
Beare-Stevenson Cutis Gyrata Syndrome
High palate, Narrow palate, Feeding difficulties in infancy, Bifid uvula, Respiratory distress, H... OMIM:123790
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Asthma, Feeding difficult... ORPHA:3206
3Mc Syndrome 1
Patent ductus arteriosus, Diastasis recti, Ventricular septal defect, Atrial septal defect, Abnor... OMIM:257920
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Enlarged kidney, Epidural hemorrhage, Multiple renal cyst... ORPHA:464329
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Knee flexion contracture, Ventricular septal defect, Atrial septal defe... ORPHA:435638
Biotinidase Deficiency
Apnea, Limb muscle weakness, Hyperventilation, Respiratory distress ORPHA:79241
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ventricular septal defect, Dilation of Virchow-Robin spaces, Atrial septal defect, Inguinal herni... OMIM:300998
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ascending tubular aorta aneurysm, Ventricular septal defect, Limb hyperto... ORPHA:444072
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Rhabdomyolysis, Dilated cardiomyopathy, Coarctation of aorta, Cardiome... OMIM:614921
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Hip contracture, Ventricular septal defect, Elbow flexion contracture, ... OMIM:178110
Joubert Syndrome With Ocular Defect
Dextrocardia ORPHA:220493
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Abnormality of the ki... OMIM:606232
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... ORPHA:464343
Arboleda-Tham Syndrome
Gastroesophageal reflux, Upper limb amyotrophy, Recurrent aspiration pneumonia, Respiratory distr... OMIM:616268
Short Stature-Micrognathia Syndrome
Micropenis, Skeletal muscle hypertrophy, Penoscrotal hypospadias, Ventricular septal defect OMIM:617164
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia ORPHA:264200
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Orofaciodigital Syndrome V
Horseshoe kidney, Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Ectopic kidney, Omphal... ORPHA:1519
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Fraser Syndrome
Urethral atresia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasi... ORPHA:2052
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Micropenis, Hypospadias, Ventricular septal defect OMIM:106260
Robinow Syndrome, Autosomal Dominant 3
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:616894
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:614961
Histiocytosis-Lymphadenopathy Plus Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Left superior vena ... OMIM:602782
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Tuberous Sclerosis 2
Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Absence of renal corticomedullar... OMIM:613254
Trisomy 20P
Camptodactyly of finger, Abnormality of the kidney, Inguinal hernia, Abnormality of the ureter, H... ORPHA:261318
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Perimembranous ventricular septal defect, Renal agenesis, Macroglossia... OMIM:301040
Achondroplasia
Feeding difficulties, Upper airway obstruction, Respiratory distress, Pulmonary hypoplasia OMIM:100800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Secundum atrial septal d... OMIM:619534
Costello Syndrome
Thickened Achilles tendon, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Hypert... ORPHA:3071
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abdominal pain, Peritonitis, Respiratory tract infection ORPHA:567548
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Limb hypertonia OMIM:616920
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Polycystic kidney dysplasia, Camptodactyly, Atrial septal defect, Rena... OMIM:614866
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal cardiac septum morphology, A... ORPHA:3310
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Unilateral renal ag... OMIM:620024
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Microcolon, Pulmonary hypoplasia, Abdomi... OMIM:619351
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Patent foramen ovale, Congenital finger flexion contractures, Decreased mus... OMIM:615582
Vater/Vacterl Association
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Renal dysplasia, Rena... OMIM:192350
Von Hippel-Lindau Disease
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl... ORPHA:892
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Restrictive ventilatory defect, Bifid uvula, Respiratory distress OMIM:183900
Rubinstein-Taybi Syndrome 1
Gastroesophageal reflux, Enamel hypoplasia, Flexion contracture, High palate, Narrow palate, Resp... OMIM:180849
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Polycystic kidney dysplasia, Renal agenesis, Ingui... OMIM:134780
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enterocolitis, Diarrhea, Pancreatitis, Hepatocellular carcinoma, Ulcerative colitis, Bruising sus... ORPHA:79259
Homozygous Familial Hypercholesterolemia
Aortic atherosclerotic lesion, Renal steatosis, Abnormal tendon morphology, Tendon xanthomatosis,... ORPHA:391665
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... OMIM:618748
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Ventricular septal defect, Atrial septal defect OMIM:617452
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Tuberous Sclerosis Complex
Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney disease, Abnormality of the kid... ORPHA:805
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... ORPHA:464738
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micropenis, Ventricular septal defect OMIM:620073
Campomelic Dysplasia
Tracheobronchomalacia, High palate, Submucous cleft hard palate, Respiratory distress, Tracheomal... OMIM:114290
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypospadias, Ventricular septal defect, Atrial septal defect ORPHA:254346
Distal Monosomy 19P13.3
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Umbilical hernia ORPHA:96129
Alg9-Cdg
Hypoplasia of the bladder, Ventricular septal defect, Pericardial effusion, Enlarged kidney, Abno... ORPHA:79328
Prader-Willi Syndrome Due To Translocation
Nasogastric tube feeding in infancy, High palate, Poor suck, Recurrent respiratory infections, Fe... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Scapular winging, Ventricular septal defect, Atrial septal defect OMIM:617061
Cerebrocostomandibular Syndrome
Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture, Atrial septal def... OMIM:117650
Robinow Syndrome
Pulmonary valve atresia, Multicystic kidney dysplasia, Ventricular septal defect, Webbed penis, A... ORPHA:97360
Holt-Oram Syndrome
Patent ductus arteriosus, Ventricular septal defect, Aplasia of the pectoralis major muscle, Secu... OMIM:142900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... ORPHA:457279
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect,... OMIM:610443
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Intestinal perforation, Rhinitis, Diarrhea, Abnormality of the anus, Elevated hepatic transaminas... ORPHA:95455
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Vesicoureteral reflux, Ascending tubular aorta aneurysm, Ventricul... ORPHA:453499
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect, Renal agenesis, Ectopic kidney, Duplicated collec... OMIM:227645
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Atrial septal defect ORPHA:505237
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Vomiting, Aspiration pneumonia, Rhabdomyolysis, Elevated hepatic... ORPHA:94093
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Atrioventricular septal defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Histiocytoid Cardiomyopathy
Ventricular septal defect, Renal cyst, Stroke-like episode, Polycystic ovaries, Cardiomegaly ORPHA:137675
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Omphalocele, Hydroneph... ORPHA:93271
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Calf muscle hypertrophy OMIM:615673
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Pulmonary bleb, Repeated pneumothoraces, Hemothorax, Nodular pattern on pulmonary H... OMIM:130050
Sotos Syndrome
Patent ductus arteriosus, Ventricular septal defect, Abnormality of the kidney, Atrial septal def... OMIM:117550
Teebi-Shaltout Syndrome
Ventricular septal defect, Camptodactyly, Ureteral stenosis, Horseshoe kidney, Aortic valve steno... OMIM:272950
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Multicystic kidney dysplasia, Ventricular septal defect, Joint contract... OMIM:300373
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Unilateral renal hypoplasia, Limb hypertonia OMIM:619950
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Leigh Syndrome
3-Methylglutaconic aciduria, Ventricular septal defect, Renal tubular acidosis, Nephrotic syndrom... ORPHA:506
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Ventricular septal defect OMIM:153400
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defec... OMIM:300712
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Osteoglophonic Dysplasia
Inguinal hernia, Failure to thrive, High palate, Respiratory distress OMIM:166250
Carpenter Syndrome 2
Patent ductus arteriosus, Knee flexion contracture, Diaphragmatic eventration, Camptodactyly, Atr... OMIM:614976
Chilton-Okur-Chung Neurodevelopmental Syndrome
Tube feeding, Limb hypertonia, Asthma, Ankyloglossia, Episodic vomiting, Aplasia of the right hem... OMIM:619841
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Meckel Syndrome 14
Single ventricle, Polycystic kidney dysplasia OMIM:619879
19Q13.11 Microdeletion Syndrome
Hypospadias, Ventricular septal defect ORPHA:217346
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Renal tubular acidosis, Ventricular septal defect... OMIM:613457
X Small Rings
Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Fetal py... ORPHA:96201
Hardikar Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder,... OMIM:301068
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Restrictive Dermopathy
Patent ductus arteriosus, Camptodactyly of finger, Ascending tubular aorta aneurysm, Multiple joi... ORPHA:1662
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Hepatic cysts, Horseshoe kidney OMIM:612284
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag... ORPHA:93111
Chime Syndrome
Pulmonary valve atresia, Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallo... ORPHA:3474
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Umbilical hernia ORPHA:2789
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
De Barsy Syndrome
Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect, Inguinal hernia, Hypo... ORPHA:2962
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:616975
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst, Umbilical hernia, Hiatus hernia OMIM:610199
Noonan Syndrome 3
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,... OMIM:609942
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Aminoaciduria, Ventricular septal defect, Macroglossia, Hypospadias, Al... OMIM:214100
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Recurrent urinary tract i... ORPHA:261330
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal defect, Atrial septal d... OMIM:309520
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Rodrigues Blindness
Nasal flaring OMIM:268320
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Ventricular septal defect, Hydronephrosis OMIM:617798
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Vesicoureteral reflux, Pancreatic cysts,... OMIM:274000
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dyspl... ORPHA:1052
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Renal hypoplasia, Recurrent urinary tract infections OMIM:617157
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele ORPHA:261265
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Atrial septal defect, Inguinal hernia, Hypertrophic cardiomyopathy, Du... OMIM:607721
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Gastroesophageal reflux, Asthma, Nasal flaring, Gastrointestinal dysmotility, Constipation, Dysph... ORPHA:466943
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Hydronephrosis, Multicystic kidney dysplasia, Inguinal hernia, Facial palsy ORPHA:261349
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defec... OMIM:613610
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect ORPHA:1393
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst, Scapular winging OMIM:615560
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:620113
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hydroureter, Atrial s... OMIM:610759
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:270450
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Omphalocele, Cystic renal dysplasia OMIM:200995
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Hypoplastic left h... ORPHA:2308
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Vesicoureteral reflux, Macroglossia, Hypospadias, Renal hypoplasia, Micropenis, Lower limb hypert... OMIM:309580
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Intracranial hemorr... ORPHA:163979
Ogden Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Perimembranous ventric... OMIM:300855
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Abdominal wall defect, Ventricular septal defect, Macroglossia, Cardiom... ORPHA:96191
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
1P36 Deletion Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Aortic arch aneurysm, Abnormal cardiac septum ... ORPHA:1606
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Inguinal hernia, Hypospadia... ORPHA:955
Meckel Syndrome, Type 1
Patent ductus arteriosus, Camptodactyly of finger, Vascular dilatation, Hypoplasia of the bladder... OMIM:249000
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Coffin-Siris Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypospadias, Abnormal ... ORPHA:1465
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Galactosuria, Hypospadias, Renal cortical microcysts, Tetralogy of Fal... OMIM:222470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Ventricular septal defect, Atrial septal defect OMIM:263520
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Hydronephrosis OMIM:615989
Bohring-Opitz Syndrome
Vesicoureteral reflux, Flexion contracture, Ventricular septal defect, Camptodactyly, Atrial sept... OMIM:605039
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Vomiting, Pancreatic calcification, Transien... ORPHA:51608
Rabson-Mendenhall Syndrome
Ventricular septal defect, Macroglossia, Long penis, Atrial septal defect, Nephrocalcinosis, Card... ORPHA:769
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Doors Syndrome
Double outlet right ventricle, Increased urine alpha-ketoglutarate concentration, Abnormality of ... ORPHA:79500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:614114
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:617360
Distal Monosomy 12Q
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Congenital hypertrophy of ... ORPHA:96149
Visceral Steatosis, Congenital
Renal steatosis, Myocardial steatosis OMIM:228100
Joubert Syndrome With Hepatic Defect
Inguinal hernia, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy ORPHA:1454
Adams-Oliver Syndrome 1
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, P... OMIM:100300
Mody
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria ORPHA:552
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the kidney, Dysplasti... ORPHA:1724
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Abdominal pain, Hypertension, Pleural effusion, ... ORPHA:567546
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Acute kidney injury, Macroglos... OMIM:266920
Orofaciodigital Syndrome I
Pancreatic cysts, Vascular dilatation, Polycystic kidney dysplasia, Abnormal heart morphology, He... OMIM:311200
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Multicystic kidney dysplasia, Arteriovenous malformation, Arterial sten... ORPHA:1556
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Ulbright-Hodes Syndrome
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology ORPHA:3404
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Ventricular septal defect, Neurogenic bladder, Macroglossia, Skeletal muscle atr... ORPHA:488632
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease OMIM:208500
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Inguinal hernia, Micropenis, Umbilical hernia OMIM:613884
Pearson Syndrome
Glycosuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Proteinuria, Renal insufficien... ORPHA:699
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect... OMIM:619268
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ... OMIM:617506
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:99880
Cleidocranial Dysplasia 1
Enamel hypoplasia, High palate, Narrow palate, Respiratory distress, Neonatal respiratory distres... OMIM:119600
Joubert Syndrome 1
Renal cyst, Nephropathy, Macroglossia OMIM:213300
Codas Syndrome
Atrioventricular canal defect, Omphalocele, Ventricular septal defect, Atrial septal defect OMIM:600373
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Ventricular septal defect, Radial artery aplasia, Renal agene... ORPHA:124
Trisomy 10P
Decreased muscle mass, Abnormality of the kidney, Camptodactyly, Multiple renal cysts, Abnormal h... ORPHA:171929
Peters Plus Syndrome
Patent ductus arteriosus, Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Abnorm... ORPHA:709
Parathyroid Carcinoma
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... ORPHA:143
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect OMIM:277600
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Flexion contracture of toe, Elbow flexion co... OMIM:608328
Meier-Gorlin Syndrome 7
Vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Atrial septal defect, Hypos... OMIM:617063
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Ventricular septal defect, Limb hypertonia OMIM:609460
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Proteinuria, Hiatus hernia OMIM:616682
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Brachytelephalangic Chondrodysplasia Punctata
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:79345
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:261236
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia OMIM:613091
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Camptodactyly of to... ORPHA:261337
15q26 overgrowth syndrome
Camptodactyly of finger, Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysp... DECIPHER:81
Microphthalmia, Syndromic 1
Joint contracture of the hand, Renal hypoplasia/aplasia, Bicuspid aortic valve, Hydroureter, Camp... OMIM:309800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Recurrent urinary tract infections, Unilateral renal agenesis, Inguina... ORPHA:268261
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Macroglossia, Atrial septal ... OMIM:614609
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Micropenis, Ventricular septal defect ORPHA:251028
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Camptodactyly, Atrial septal defect, Inguinal hernia, Facial hypotonia... OMIM:613458
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Ventricular septal defect, Renal hypoplasia/aplasia, Mitral valve prolapse,... ORPHA:363700
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Inguinal hernia, Ventricular septal defect, Atrial septal defect ORPHA:251014
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis, Renal tubular acidosis OMIM:619575
Koolen-De Vries Syndrome Due To A Point Mutation
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ventricular septal defect, Recurrent ur... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ventricular septal defect, Recurrent ur... ORPHA:363958
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
D-Bifunctional Protein Deficiency
Renal cyst, Decreased muscle mass OMIM:261515
Apert Syndrome
Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Kohlschutter-Tonz Syndrome-Like
Ventricular septal defect, Recurrent urinary tract infections OMIM:619229
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Macrogl... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Macrogl... ORPHA:352665
Oculodentodigital Dysplasia
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Neurogenic bladder ORPHA:2710
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Situs inversus totalis, Uretera... ORPHA:564
Spondylocarpotarsal Synostosis Syndrome
Renal cyst, Inguinal hernia, Scapular winging OMIM:272460
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Renal dysplasia, Ureterocele, Micropenis, Umbilical hernia ORPHA:1934
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Von Hippel-Lindau Syndrome
Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst OMIM:193300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Vascular ring, Recurr... ORPHA:353281
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Constipation, Respiratory distress OMIM:305100
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Micropenis, Hypospadias, Ventricular septal defect OMIM:206900
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Moderate albuminuria, Membranoproliferative glomerulonephritis, Inguin... OMIM:619525
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Dilatation of the ventricular cavity, Ventricular septal defect, At... ORPHA:459070
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Atrial ... OMIM:308205
Alström Syndrome
Chronic bronchitis, Elevated hepatic transaminase, Recurrent sinusitis, Dorsocervical fat pad, He... ORPHA:64
Cerebellofaciodental Syndrome
Mitral valve prolapse, Ventricular septal defect OMIM:616202
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:244450
Zttk Syndrome
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Unilateral renal agenes... OMIM:617140
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux, Vent... ORPHA:444077
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Pmm2-Cdg
Hepatic fibrosis, Vomiting, Aspiration pneumonia, High palate, Multiple joint contractures, Abnor... ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Neonatal respiratory distress, ... OMIM:614748
Jacobsen Syndrome
Hypospadias, Flexion contracture, Ventricular septal defect, Atrial septal defect OMIM:147791
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Aplasia of the epiglottis, Hepatomegaly, Respiratory distress OMIM:617088
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Umbilical hernia, Cardiomyopathy ORPHA:33364
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Patent ductus arteriosus, Urinary incontinence, Ventricular septal defect, Renal agenesis, Urethr... OMIM:619522
Microphthalmia, Syndromic 6
Renal hypoplasia OMIM:607932
Cohen Syndrome
Mitral valve prolapse, Ventricular septal defect ORPHA:193
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, High palate, Anal atresia, Respiratory distress, Recurrent upper ... ORPHA:480880
Isolated Arrhinia
Respiratory distress ORPHA:1134
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:301030
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Vascular dilatation, Multicystic kidney dysplasia, Proteinuria, Renal insuffici... ORPHA:2750
Craniofacial Microsomia
Patent ductus arteriosus, Vesicoureteral reflux, Multicystic kidney dysplasia, Ventricular septal... OMIM:164210
Marshall-Smith Syndrome
Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve, Atrial septal defec... OMIM:602535
Hydrolethalus Syndrome 1
Ventricular septal defect, Agenesis of the diaphragm, Hypospadias, Complete atrioventricular cana... OMIM:236680
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Distal arthrogryposis, Ventricular septal defect, Macroglossia OMIM:618268
Costello Syndrome
Lymphangiectasis, Ventricular septal defect, Mitral valve prolapse, Achilles tendon contracture, ... OMIM:218040
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent ductus arteriosus, Patent foramen ovale, Dilatation of the ve... OMIM:619991
Sotos Syndrome
Flexion contracture, Congenital posterior urethral valve, Vesicoureteral reflux, Bilateral campto... ORPHA:821
Feingold Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Tricuspid stenosis,... OMIM:164280
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atrial ... OMIM:139210
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect ORPHA:436252
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Camptodactyly of finger, Ve... OMIM:607872
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Episodic abdominal pain, Jaundice, Hypertension, Myocardial infarction, Odyno... ORPHA:447
Proboscis Lateralis
Patent ductus arteriosus, Ureteral agenesis, Ventricular septal defect, Unilateral renal agenesis... ORPHA:141099
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Nasogastric tube feeding in infancy, Poor suck, Multiple joint contractures, Respiratory distress... ORPHA:99646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... ORPHA:438213
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Ventricular septal defect OMIM:614653
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polyc... ORPHA:731
Mckusick-Kaufman Syndrome
Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Pallister-Hall Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Distal arthrogryposis, Ventricular septa... ORPHA:672
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Umbilical hernia, Ventricular septal defect OMIM:258315
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Joint contracture of t... OMIM:256520
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... ORPHA:353277
Noonan Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... OMIM:163950
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Hypospadias, Renovascular hypertension, Renal ar... ORPHA:3472
Genitopatellar Syndrome
Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Ventricular septal defec... OMIM:606170
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Patent ductus arteriosus, Atrioventricular canal defect, Camptodactyly of finger, Ventricular sep... ORPHA:3047
Johanson-Blizzard Syndrome
Vascular dilatation, Ventricular septal defect, Urethrovaginal fistula, Dilated cardiomyopathy, A... OMIM:243800
Larsen Syndrome
Aortic aneurysm, Ventricular septal defect, Atrial septal defect OMIM:150250
Hypoglossia-Hypodactyly Syndrome
Gastroschisis ORPHA:989
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Diastasis recti, Flexion contracture, Ventricular septal defect, Camptodactyly, Macroglossia, Atr... ORPHA:96334
Kabuki Syndrome 1
Crossed fused renal ectopia, Ventricular septal defect, Atrial septal defect, Coarctation of aort... OMIM:147920
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Ventricular hypertrophy, Flexion contracture, Ventricular septal defect,... OMIM:143095
Mowat-Wilson Syndrome
Flexion contracture, Abnormal cardiac septum morphology, Camptodactyly, Pulmonary artery sling, V... ORPHA:2152
Roberts Syndrome
Knee flexion contracture, Wrist flexion contracture, Polycystic kidney dysplasia, Long penis, Pro... ORPHA:3103
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Flexion contracture, Camptodactyly, Pulmonary artery sling, Duplication of renal pelvis, Vesicour... ORPHA:261552
Mowat-Wilson Syndrome
Patent ductus arteriosus, Ventricular septal defect, Abnormality of the kidney, Atrial septal def... OMIM:235730
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Renal duplication, Vesicoureteral reflux, Multicystic kidney dysplasia, Hyd... ORPHA:261537
Roberts-Sc Phocomelia Syndrome
Patent ductus arteriosus, Wrist flexion contracture, Knee flexion contracture, Ventricular septal... OMIM:268300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Ventricular septal defect OMIM:619418
Proteus Syndrome
Decreased muscle mass, Enlarged polycystic ovaries, Arteriovenous malformation, Long penis, Renal... ORPHA:744
Ulnar-Mammary Syndrome
Inguinal hernia, Elbow flexion contracture, Micropenis, Ventricular septal defect OMIM:181450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:615287
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Torticollis, Aortic aneurysm, Hematuria, Hyposp... OMIM:619475
Keutel Syndrome
Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular septal defect, Peripheral pulmonary a... OMIM:245150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Flexion contracture, Ventricular septal defect, Atrial septal defect OMIM:271640
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect, Epispadias ORPHA:434179
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect, Lower-limb joint contracture ORPHA:513456
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Wolf-Hirschhorn Syndrome
Hypospadias, Decreased muscle mass, Ventricular septal defect, Atrial septal defect OMIM:194190
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Branchiooculofacial Syndrome
Elbow flexion contracture, Renal agenesis, Renal cyst, Hypospadias, Facial palsy OMIM:113620
Yunis-Varon Syndrome
Patent foramen ovale, Ventricular septal defect, Hypospadias, Tetralogy of Fallot, Micropenis, Ca... OMIM:216340

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 Slit3

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 Slit3.

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

Title Journal IMPC Allele PubMed ID
Targeting skeletal endothelium to ameliorate bone loss. Nature medicine (May 2018) Slit3tm1c(EUCOMM)Hmgu Slit3tm1a(EUCOMM)Hmgu PMC5992080

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MGI Allele Allele Type Produced
Slit3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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