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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Thoracoabdominal Syndrome
Renal agenesis, Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arter... OMIM:313850
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis OMIM:236110
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... OMIM:231060
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Intestinal malrotation, Congenital dia... ORPHA:2140
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, Ri... ORPHA:254361
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Hernia, Weight ... ORPHA:26790
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Right ventricular hypert... ORPHA:70589
Fetal Encasement Syndrome
Horseshoe kidney, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congen... OMIM:613630
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... ORPHA:388
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Constricting Bands, Congenital
Gastroschisis, Omphalocele, Bladder exstrophy, Ectopia cordis OMIM:217100
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Respiratory distress, Feeding difficulties, Gastrostomy tube ... ORPHA:141152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... OMIM:253700
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie... OMIM:615996
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia OMIM:615524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphrag... OMIM:601163
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Diarrhea, Congestive heart failure, Prot... ORPHA:67
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Respiratory distress, Splenome... ORPHA:77260
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Atrial... OMIM:612946
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Inguinal hernia, Perineal hyposp... OMIM:615542
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre... ORPHA:2869
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Myopathy, Decreased body weight, Type 1 fibers rela... OMIM:300580
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Nausea and vomi... ORPHA:543
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... ORPHA:50251
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Recurrent acute ... OMIM:620011
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Gastroesophageal reflux, Failure to thrive, Campt... OMIM:614399
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly, High palate, Dysphagia, Feeding difficulties OMIM:617055
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Abnormality of the liver, Ragged-red muscle fibers, Myopathy, Increased mus... ORPHA:254864
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates, Weight loss, Dyspnea ORPHA:64741
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Hypoplastic left heart, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease, Pate... OMIM:617661
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Feeding difficulties in infancy, Type 2 mus... OMIM:605809
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis OMIM:614844
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Bloody di... OMIM:243150
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Congenital diaphragmatic hernia, Ventricular septal d... ORPHA:1166
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Palpitations, Congenital diaphragmatic hernia, Abnor... ORPHA:2847
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory distress, Type 2 muscle fiber atrophy, Apneic epi... OMIM:254210
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Pulmonary embolism, Vomiting, Intestinal lymphangiectasia, Budd-Chiari syndrome, Malabs... OMIM:226300
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Congenital diaphragmatic he... ORPHA:139466
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Slend... ORPHA:399103
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Failu... OMIM:620233
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Gastroesophageal reflux, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyop... ORPHA:183
Schisis Association
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele, Anal atresia, Small for ... ORPHA:63862
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Aspiration pneumonia, Respiratory distress, Atelectasis, Pulmona... ORPHA:70588
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Adams-Oliver Syndrome 6
Truncus arteriosus, Renal hypoplasia, Ventricular septal defect OMIM:616589
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Dyspnea, Abdominal pain ORPHA:168811
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Duodenal stenosis, Congenital diaphragmatic hernia, Abnormal... ORPHA:2470
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... ORPHA:44890
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... OMIM:613561
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress, In... ORPHA:238329
Limb Body Wall Complex
Abdominal wall defect, Abnormal heart morphology, Diastasis recti, Congenital diaphragmatic herni... ORPHA:2369
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Small for gestati... ORPHA:95706
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Parenchymal consolidation, Abnormality of the gastrointestinal tra... ORPHA:2902
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Respiratory distress, Eleva... OMIM:616974
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Inguinal hernia, Ventricular septal defect, Atrial s... OMIM:608572
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Right aortic arch with mirror image branching, Tetralo... OMIM:601186
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormality of connective tissue, Abnormal rectum mo... ORPHA:70475
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the liver, Anorectal anomaly, ... ORPHA:1834
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Recurrent respiratory infections, Respirat... ORPHA:596
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... OMIM:618901
Desmoid Tumor
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... ORPHA:873
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hepatic steatosis, Hepatomegaly, Tachycardia, Dys... OMIM:613327
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... OMIM:613404
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Renal hypoplasia, Pulmonary artery atresia, Ureteral ste... OMIM:270100
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Respiratory distress, Hepatic steatosis, Myopathy, Feeding dif... ORPHA:26792
Infantile Myofibromatosis
Chondrocalcinosis, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistu... ORPHA:2591
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cardiac arrest, Pulmonary edema... ORPHA:70587
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Orofaciodigital Syndrome Xvii
Tetralogy of Fallot, Renal hypoplasia, Micropenis OMIM:617926
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output conges... ORPHA:91130
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Urinary bladder wall hypertrophy, Omphalocele, Renal dysp... OMIM:601389
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Atelectasis, Respiratory distress, Myopathy, High pal... OMIM:300219
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Split-Hand/Foot Malformation 3
Camptodactyly, Renal hypoplasia OMIM:246560
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... ORPHA:324604
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect ORPHA:2256
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Cachexia, Weight loss, Abnormal peritoneum morphology, Abdominal dist... ORPHA:83469
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Umbilical hernia OMIM:254120
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag... OMIM:166300
13Q12.3 Microdeletion Syndrome
Vomiting, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Constipation, Camptodactyl... ORPHA:412035
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst OMIM:615583
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:367
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy... OMIM:220210
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Inguinal hernia, Anal atresia, Aplasia/H... ORPHA:2063
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Gastroschisis, Ventricular septal defect ORPHA:2476
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Do... OMIM:179613
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Gastroesophageal reflux, Cardiomyopathy, Absent muscle fiber merosin, Atelect... ORPHA:258
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Patent foramen ovale, Ven... OMIM:618494
Mungan Syndrome
Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Patent foramen ovale... OMIM:616854
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom... ORPHA:897
Emanuel Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Failure to thrive, Recurrent respiratory infectio... OMIM:609029
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Exertional dyspnea, Recurre... ORPHA:3348
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory distress, Failure to thrive in infancy,... ORPHA:254875
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Ppoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Cholelithiasis, Diarrhea, Lack of bowel so... ORPHA:97278
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... ORPHA:284180
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Dysphagia, Feeding difficulties, P... OMIM:300978
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Congenital diaphragmatic hernia, Omphalocele, Flexio... OMIM:263210
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hernia, Intestinal atresia, Anal atr... ORPHA:94065
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Congenital diaphragmatic hernia OMIM:300887
Grfoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... ORPHA:97261
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... OMIM:620278
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Respiratory distress, Tricuspid regurgitation,... ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Respiratory distress, Congenital diaphragmatic hernia, Cleft palate, Feeding difficu... OMIM:606164
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Camptodactyly, D... OMIM:619751
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Reduced renal c... OMIM:208085
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati... OMIM:619902
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615297
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Umbilical hernia, Inguinal hernia, Patent foramen ovale, Joint contracture of t... OMIM:618914
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Ground-glass opacification, Cystic pattern on pulmonary HRCT, ... OMIM:610978
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Flexion contracture, Hypertension, Small for ... OMIM:616733
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Gastroesophageal reflux, Failure to thrive, Respi... OMIM:615595
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria OMIM:619053
Anaplastic Thyroid Carcinoma
Respiratory distress, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Weight loss... ORPHA:142
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:333
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Camptodactyly, Lacticaciduria, Hepa... OMIM:604273
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect ORPHA:75389
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:601355
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Umbilical hernia, Micropenis, Hypospadias, Patent ductus arteri... ORPHA:171839
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Renal hypoplasia OMIM:276950
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Exertiona... OMIM:178500
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... OMIM:174000
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Complete atrioventricular canal defect, Ventricular septal defe... OMIM:264480
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneo... ORPHA:97283
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Right ventricula... ORPHA:90363
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Horseshoe kidney... OMIM:608978
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Congestive heart failure, Respiratory dist... OMIM:212140
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Feeding difficulties in infancy, Orthopnea, Elevated circulating alan... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 7
Facial paralysis, Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Paralytic ileus, D... OMIM:613559
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Enamel hypoplasia, Ectopic kidney, Pulmonic stenosis OMIM:212780
Jansen-De Vries Syndrome
Vomiting, Gastroesophageal reflux, Constipation, Feeding difficulties, Central diaphragmatic hernia OMIM:617450
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Dyspnea, Flex... OMIM:603511
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Cebalid Syndrome
High palate, Congenital diaphragmatic hernia, Feeding difficulties OMIM:618774
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Myopathy, Renal cy... OMIM:614922
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Shigellosis
Cholestasis, Rhabdomyolysis, Anorexia, Abdominal pain, Purpura, Intestinal perforation, Bloody mu... ORPHA:810
Mitochondrial Complex I Deficiency, Nuclear Type 16
Feeding difficulties, Failure to thrive, Aplasia of the left hemidiaphragm OMIM:618238
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Diarrhea, Vomiting, Bruising susceptibility, Fasciitis, Splenomegaly, Int... ORPHA:32960
Coffin-Siris Syndrome 3
Poor suck, Umbilical hernia, Inguinal hernia, Macroglossia, High palate, Cleft palate, Feeding di... OMIM:614608
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Respiratory distress, Pleural effusion, Pneumothorax, Weight loss, Dyspnea, Bronchiecta... ORPHA:411703
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Gastroesophageal reflux, Peripheral pulmonary ar... OMIM:613177
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Anteriorly placed anus, Camptodactyly of finger ORPHA:1488
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... OMIM:613095
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Dextrocardia, Patent duc... ORPHA:2863
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Gastroesophageal reflux, Failure to thrive, Recurrent respira... ORPHA:96170
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Castleman Disease
Restrictive cardiomyopathy, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnormal... ORPHA:160
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... ORPHA:2970
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Ground-glass opacification, Tac... ORPHA:91359
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Inguinal hernia, Proteinuria, Hepatomegaly, Glo... OMIM:614376
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Rig... OMIM:614261
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Intestinal malrotation, Congenital diaphragmatic hernia, Chronic constipation,... OMIM:617602
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Hepatomegaly, Pulmonary arteria... OMIM:612387
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Type II pn... OMIM:263000
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Congenital diaphragmatic hernia, Failure to thrive ORPHA:370079
Zygomycosis
Cellulitis, Diarrhea, Ileitis, Pulmonary infiltrates, Acute infectious pneumonia, Abdominal pain,... ORPHA:73263
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale, Ventricular sept... OMIM:609053
Marden-Walker Syndrome
Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Decreased muscle mass, I... OMIM:248700
1Q41Q42 Microdeletion Syndrome
Cleft palate, Congenital diaphragmatic hernia, Submucous cleft hard palate, Pulmonary hypoplasia ORPHA:250999
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Vesicoureteral reflux, Mitral st... OMIM:617660
Craniofrontonasal Dysplasia
High palate, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Glucagonoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal g... ORPHA:97280
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral... ORPHA:900
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Exstrophy-Epispadias Complex
Abnormality of the ureter, Abnormality of the abdominal wall, Abnormality of the kidney, Urinary ... ORPHA:322
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Trichothiodystrophy 1, Photosensitive
Malabsorption, Absence of subcutaneous fat, Intestinal obstruction, Telangiectasia, Flexion contr... OMIM:601675
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Arrhythmia, Hepatomegaly, Ventricular fibrillation, Jaundice, Tachycardia, Obesity, Sm... ORPHA:26793
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Renal hypoplasia, Facial hypotonia OMIM:620439
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Failure to thrive, Obesity, Feeding difficulties, Congenital diaphragmat... ORPHA:261197
Congenital Fibrinogen Deficiency
Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis, Vasculitis in the skin OMIM:620321
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Lipoma, Esophagitis, Intestina... ORPHA:913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Tricuspid regurgitation, Congenital diaphragmatic hernia, Aplasia/Hypopla... ORPHA:1120
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Failure to thrive, Respiratory distress, Cachexia, Weight loss, Feeding diffi... OMIM:612075
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Muscular dystrophy, Elevated circulating hepatic ... OMIM:608799
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness ORPHA:240085
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Renal hypoplasia, Dilated cardiomyopathy, 3-Methylglutaconic aciduria ORPHA:254913
Avian Influenza
Pneumonia, Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatitis, Vomiting... ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Elevated circulating hepatic transaminase concentration, Vomiting, Hepatitis, Secretor... ORPHA:37042
Vacterl/Vater Association
Anorectal anomaly, Abnormality of the gallbladder, Congenital diaphragmatic hernia, Tracheoesopha... ORPHA:887
Arterial Tortuosity Syndrome
Aortic valve stenosis, Bifid uvula, Aortic regurgitation, Bruising susceptibility, Umbilical hern... OMIM:208050
Adams-Oliver Syndrome 5
Umbilical hernia, Splenomegaly, Patent foramen ovale, Inguinal hernia, Right atrial enlargement, ... OMIM:616028
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Pulmonary... OMIM:234810
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Recurrent respiratory infections, Myopathy, Intestinal obstruc... ORPHA:2323
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect OMIM:263630
Combined Oxidative Phosphorylation Defect Type 7
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Oral-pharyngeal dysphagia... ORPHA:254930
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... ORPHA:730
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Hernia ORPHA:1745
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Failure to thrive, Diarrhea, Exocrine pan... OMIM:219700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Renal cyst, Arthrogryposis multiplex congenita, Renal dysplasia OMIM:236500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Failure to thrive, Umbilical hernia, Respiratory distress, Intestinal malr... ORPHA:2255
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Congenital diaphragmatic hernia, Inguin... ORPHA:2409
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Gastroesophageal reflux, Failure to thrive, Congenital diaphragmat... ORPHA:363528
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d... OMIM:194080
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Pulmonary infiltrates, Tachy... ORPHA:178320
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic ki... OMIM:173900
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
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal localization of kidney, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Persistent left superior vena cava, Urethral atres... OMIM:314390
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Renal insufficiency, Right aortic arch, Truncus art... OMIM:617478
Igg4-Related Aortitis
Abdominal pain, Weight loss, Intestinal obstruction ORPHA:449400
Halperin-Birk Syndrome
Gastroesophageal reflux, Failure to thrive, Pseudobulbar paralysis, Umbilical hernia, Congenital ... OMIM:618651
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Mucolipidosis Type Iii Alpha/Beta
Oligosacchariduria, Umbilical hernia, Keratan sulfate excretion in urine, Diastasis recti, Flexio... ORPHA:423461
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Feeding difficulties OMIM:616341
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Supraval... OMIM:219100
Lujo Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Atelect... ORPHA:319213
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Lambert Syndrome
Hypospadias, Inguinal hernia, Ventricular septal defect ORPHA:1296
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Intestinal obstructio... OMIM:600802
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Primary Ciliary Dyskinesia
Polysplenia, Atelectasis, Intestinal malrotation, Pulmonary situs ambiguus, Respiratory tract inf... ORPHA:244
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Hepatomegaly, Midgut m... ORPHA:100079
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Prune belly, Ventricular septal defect OMIM:618504
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Congenital diaphragmatic hernia, Aganglionic meg... ORPHA:2059
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dilatation of the cerebral artery, Renal cyst OMIM:174050
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Porphyria Variegata
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:79473
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Tetralogy of Fallot, Hernia of the abdominal wall, Patent duct... ORPHA:2184
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Dyspnea, Congestive heart failure, Respiratory distress, Hypertrophic car... OMIM:115197
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Slc35A1-Cdg
Pneumonia, Cellulitis, Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonar... ORPHA:238459
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Umbilical hernia, Secundum atrial septal defect, Absence of renal corticomedull... OMIM:619758
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating hepatic transaminase concentration, Congenital contracture, Respiratory dist... OMIM:615042
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Small then... OMIM:613390
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic he... ORPHA:1335
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Tachypnea, Acute infect... ORPHA:264675
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Clef... ORPHA:2311
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Umbilical hernia, Respiratory distress, Large for gestational age, Feeding ... ORPHA:226313
Ataxia-Telangiectasia-Like Disorder 2
Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Joint con... OMIM:615919
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... OMIM:615415
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction OMIM:606764
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, C... ORPHA:2075
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Respiratory distress, Nausea and vomiting, Splenomegaly, Pancr... ORPHA:79312
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Failure to thrive, Umbilical hernia, Intest... OMIM:600001
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Familial Mediterranean Fever
Vasculitis, Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Mala... ORPHA:342
Seckel Syndrome 9
Pulmonary artery hypoplasia, Small for gestational age, Congenital diaphragmatic hernia, Recurren... OMIM:616777
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Diaphragm... OMIM:222448
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Intraalveolar phospholipid accumulation, Hepatitis, Splenomegaly, Paralytic ileus, ... OMIM:620565
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V... ORPHA:49
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Camptodactyly, Ventricular septal defect OMIM:614815
Cach Syndrome
Renal hypoplasia, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:135
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Obesity, Congenital diaphragmatic hernia, Pulmonary artery stenosis,... ORPHA:251071
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Meckel Syndrome 12
Arthrogryposis multiplex congenita, Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Focal Dermal Hypoplasia
Gastroesophageal reflux, Camptodactyly of finger, Acute hepatic failure, Umbilical hernia, Abnorm... ORPHA:2092
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Inguinal hernia, Patent ... OMIM:618454
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Renal hypoplasia/aplasia, Ventricular septal def... ORPHA:1926
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus... ORPHA:3097
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Feeding difficulties OMIM:300934
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Abnormal aortic morphology, Renal hypoplasia/aplasia, Truncus arteriosus, Ventric... ORPHA:2516
Trisomy 1Q
Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricul... ORPHA:261344
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Median cleft palate ORPHA:1832
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed fused renal ec... OMIM:607323
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Myocardial infarction, Cachexia, Acute infectious pneumon... ORPHA:60033
Czeizel-Losonci Syndrome
Tracheoesophageal fistula, High palate, Posterolateral diaphragmatic hernia, Aplasia of the left ... ORPHA:2437
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Failure to thrive, Respiratory distress, Inguinal hernia, Pulmonary arte... OMIM:619272
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Congenital diaphragmatic hernia, Trache... ORPHA:958
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Pneumothorax, Weight... ORPHA:1302
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Abnor... ORPHA:2032
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Pleural effusion, Parenchymal consolidation,... ORPHA:36238
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Facial hypotonia, Heart mur... ORPHA:308552
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Renal duplication, Ventricular se... OMIM:613309
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Inguinal hernia OMIM:613735
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin... ORPHA:98915
Syndromic Diarrhea
Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
2Q37 Microdeletion Syndrome
Obesity, Umbilical hernia, Congenital diaphragmatic hernia, Pyloric stenosis ORPHA:1001
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Renal dysplasia ORPHA:85284
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Failure to thrive, Respiratory distress, Cerebral ischemia, Reye syndrome-lik... ORPHA:927
Cocaine Intoxication
Rhabdomyolysis, Pulmonary infiltrates, Pulmonary edema, Tachypnea, Tachycardia, Abdominal pain, I... ORPHA:90068
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Left-to-right shunt, Tachypnea, Elevated jugular veno... ORPHA:1329
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Dilatation of the cerebral artery, Retinal arteriolar tortuosity, Renal insufficiency, Hematuria,... OMIM:611773
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:616730
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Fa... OMIM:617595
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Waardenburg Syndrome Type 3
Atelectasis, Camptodactyly of finger ORPHA:896
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal ... ORPHA:3375
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Centrilobular ground-glass opacification ... ORPHA:199241
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Coar... ORPHA:371428
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Vascular dil... OMIM:617056
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Umbil... OMIM:620654
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Respiratory distress, Facial diplegia, Feeding difficulties in in... OMIM:160900
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
Zaki Syndrome
Hydronephrosis, Congenital diaphragmatic hernia, Renal agenesis, Patent foramen ovale OMIM:619648
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Patent foramen ovale, Left ven... OMIM:619167
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Hydronephrosis, Arthr... OMIM:607598
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Perlman Syndrome
Distal ileal atresia, Volvulus, Large for gestational age, Congenital diaphragmatic hernia, Pancr... OMIM:267000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Respiratory distress, Hypertrophic cardiomyopathy... OMIM:604377
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Gastroesophageal reflux, Large for gestational age, Congenital diaphragmatic herni... OMIM:614080
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Anomalous origin of left cor... ORPHA:2326
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux, Dilation of Virchow-Robin spaces OMIM:619955
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Prominent superficial veins OMIM:616817
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia OMIM:612530
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:601494
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,... ORPHA:538
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Failure to thrive, Abnormality of con... ORPHA:79128
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Hepatic agen... ORPHA:1692
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Gastrointestinal infarctions, Pulmonary hemorrhage, Palpitations, H... ORPHA:2038
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Transketolase Deficiency
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... ORPHA:488618
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Inguinal hernia, Micropenis,... OMIM:616541
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated circulating hepatic transaminase concentration, Contractures of the large joints, Recurr... ORPHA:329178
White-Sutton Syndrome
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Obesity, Feeding difficulties, Congenita... OMIM:616364
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Hypospadias, Atrial septal defect, Ventricular septal defect OMIM:618330
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... OMIM:615994
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Li-Campeau Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Micropenis, Patent ductus ... OMIM:619189
Laryngotracheal Angioma
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Feeding difficulties ORPHA:137935
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Pulmonary infiltrates, Feeding difficulties in infancy, Abdominal distention,... ORPHA:3260
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger ORPHA:1759
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
White-Sutton Syndrome
Gastroesophageal reflux, Obesity, Congenital diaphragmatic hernia, Chronic constipation, Inguinal... ORPHA:468678
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized amyotrophy, Decreased muscle mass, Respiratory distress, High palate, Flexion contrac... OMIM:271225
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial ... OMIM:249270
Fetal Alcohol Syndrome