Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
multiple EGF-like-domains 8
Synonyms:
b2b288Clo,  m687Ddg,  Egfl4,  b2b1702Clo

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 Megf8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Megf8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Megf8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... OMIM:270100
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnorm... ORPHA:294975
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Congeni... OMIM:608978
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal mal... OMIM:619657
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... OMIM:231060
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... OMIM:615996
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... OMIM:619702
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... OMIM:314390
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:1120
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic left heart OMIM:236110
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... OMIM:619142
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... ORPHA:3097
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r... ORPHA:1354
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal... OMIM:616589
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal... ORPHA:185
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, C... OMIM:619123
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Micrognathia, Bifid nasal tip... OMIM:619343
Cat Eye Syndrome
Biliary atresia, Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total ano... OMIM:115470
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia ORPHA:66630
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... OMIM:201000
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... ORPHA:1926
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, High palate, Transposition of th... ORPHA:1913
Pentalogy Of Cantrell
Absent gallbladder, Hypospadias, Renal agenesis, Abnormal pericardium morphology, Ventricular sep... ORPHA:1335
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ... OMIM:612946
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Micrognathia, Patent ductus... ORPHA:2863
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Pseudotrisomy 13 Syndrome
Renal agenesis, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, ... OMIM:264480
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Cleft palate, Hypoplas... ORPHA:1727
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Asplenia, Abnormal lung lobation, Finger clinodactyly, High pala... ORPHA:99776
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Arthritis, Abnormal cardiac... ORPHA:1937
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Ventricular septal defect, Intestinal malrotation, Depressed nasal ... ORPHA:3426
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Gastroesophageal reflux,... OMIM:618316
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Short... OMIM:164280
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... OMIM:617478
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Abnormality of the kidney, Hypoplastic left heart, High palate, Polysplenia, Clinod... OMIM:610543
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... OMIM:614294
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial ... OMIM:601186
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Anteverted nares, Petechiae, Cleft lip, Patent ductus arteriosus... OMIM:251290
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Bilateral choanal ... ORPHA:1200
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Deep ph... ORPHA:261120
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Posterolateral diaphragmatic hernia, Sand... OMIM:613177
Distal Duplication 17Q
Hallux valgus, Accessory spleen, Rhizomelia, Overlapping toe, Arachnodactyly, Cleft palate, Genu ... ORPHA:3379
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph... OMIM:615297
Down Syndrome
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... OMIM:190685
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... OMIM:249670
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... OMIM:617926
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Anencephaly 2
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate OMIM:619452
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Micrognathia, High palate, Pa... OMIM:619699
Meckel Syndrome, Type 1
Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plat... OMIM:249000
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... ORPHA:65759
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Rhizomelia, Micrognathia, Wide nasal bridge, Downturned c... ORPHA:93267
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo... OMIM:613630
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... ORPHA:261183
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... ORPHA:2256
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Overlapping toe, Ventricular septal defect, Unilateral renal agenesis, High... OMIM:618494
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... ORPHA:2184
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Wide nasal bridge, Orofacial cleft, Perimembranous ventricula... OMIM:618804
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... OMIM:618719
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Prune Belly Syndrome
Congenital hip dislocation, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspl... ORPHA:2970
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Meckel Syndrome
Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, P... ORPHA:564
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, A... ORPHA:1759
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hy... OMIM:617661
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Anteverted nares, Short toe, Pierre-... OMIM:617877
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Acetabular dysplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Ab... OMIM:179613
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... ORPHA:2059
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... OMIM:613759
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Protruding tongue, Respiratory tract infe... ORPHA:93400
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Metata... ORPHA:1388
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... OMIM:173800
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent duc... ORPHA:251071
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... OMIM:619418
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Lateral clavicle ho... OMIM:615503
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Microph... OMIM:613885
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Malar ... ORPHA:217340
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Paten... OMIM:618142
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial... OMIM:620296
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Horseshoe... OMIM:616368
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect... OMIM:617063
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Prolidase Deficiency
Hepatomegaly, Depressed nasal bridge, Petechiae, Micrognathia, Splenomegaly, Recurrent pneumonia,... OMIM:170100
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... OMIM:600001
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Petechiae, C... OMIM:608013
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Convex nasal ridge, Ab... ORPHA:1277
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... ORPHA:3434
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Long nose, Wide na... OMIM:619995
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion, Velopharyngeal ... ORPHA:363444
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Anteverted nares, Depresse... OMIM:608149
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Dextrocar... ORPHA:2437
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Atrial septal defect, Renal hypoplasia,... OMIM:616854
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis OMIM:244400
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus... ORPHA:3304
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, A... OMIM:145420
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... ORPHA:391646
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide nose, Prominent nose, Broad nasal tip, Bulbous nose, Wide mouth, E... OMIM:617982
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Ellis Van Creveld Syndrome
Micromelia, Epispadias, Atrial septal defect, Atrioventricular canal defect, Emphysema, Synostosi... ORPHA:289
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip... OMIM:616789
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala... OMIM:617022
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, High, narrow palate, Flexion contracture, Aortic isthmus hypopla... OMIM:180849
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Wide nasal bridge, Dysphagia, Atrial septal defect, Hypoplastic spl... ORPHA:89844
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Cutis marmorata, Mediastinal lymphade... ORPHA:91138
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Ventricular septal defect, Intestinal malrotation, Ectopi... ORPHA:401935
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Mitral valve prolapse, Atypical scarring of skin, Bruising susceptibility, Pete... OMIM:225310
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Birk-Aharoni Syndrome
Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b... OMIM:620071
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Patent ductus art... OMIM:617746
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas... OMIM:601927
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Multiple gastric... OMIM:225750
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Renal hypoplasi... ORPHA:75389
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... OMIM:607323
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Small hand, Mitral valve prolapse, Joint hyperflexibility, Pulmo... ORPHA:2868
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... ORPHA:2257
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... ORPHA:331
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Fucosidosis
Recurrent respiratory infections, Wide nose, Hepatomegaly, Depressed nasal bridge, Angiokeratoma,... OMIM:230000
Verheij Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Renal hypoplasia,... OMIM:615583
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital pulmonary airway ... OMIM:243150
Marden-Walker Syndrome
Inguinal hernia, Anteverted nares, Dextrocardia, Micrognathia, High, narrow palate, Pyloric steno... OMIM:248700
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of live... OMIM:619463
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Triploidy
Omphalocele, Hepatomegaly, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midline clef... ORPHA:3376
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Micrognathia, Carious teeth, Pericardial effusion, Multiple muscular ventricular septal defects, ... OMIM:620070
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip... OMIM:136760
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate OMIM:617616
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Aplas... ORPHA:1695
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral ... ORPHA:1919
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Burn-Mckeown Syndrome
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, Renal hypoplasia, Cleft... OMIM:608572
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Sandal gap, Patent ductus arteriosus, Dysplastic tricuspid valve, Small han... OMIM:612863
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete... OMIM:617925
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnormal left ... OMIM:300845
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Trisomy 1Q
Omphalocele, Microretrognathia, Wide nose, Anophthalmia, Ventricular septal defect, Depressed nas... ORPHA:261344
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnorma... ORPHA:2311
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the... ORPHA:2255
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bor... ORPHA:1906
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bri... OMIM:618067
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Short nose OMIM:300577
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Anteverted n... OMIM:158170
Houge-Janssens Syndrome 3
Inguinal hernia, Broad nasal tip, Muscular ventricular septal defect, High palate, Short philtrum... OMIM:618354
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninf... OMIM:603909
Trisomy 13
Median cleft lip, Ventricular septal defect, Anophthalmia, Abnormality of the dentition, High, na... ORPHA:3378
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Preaxial hand polydactyly, Postaxial ha... OMIM:236680
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathia, Flexion co... OMIM:263210
Emanuel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux... OMIM:609029
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... ORPHA:476126
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Desmosterolosis
Renal agenesis, Intestinal malrotation, Micromelia, Renal hypoplasia/aplasia, Metatarsus adductus... ORPHA:35107
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Absent thumb, Short thumb, Patent foramen ovale,... OMIM:609053
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Anteverted nares, Abnormal... OMIM:618529
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... OMIM:601357
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cleft palat... ORPHA:1166
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano... OMIM:611376
Transaldolase Deficiency
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarc... ORPHA:101028
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... OMIM:617174
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... ORPHA:2143
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atrial septal de... OMIM:136140
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Atrial septal defe... ORPHA:2044
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly OMIM:615985
Hamamy Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Complete atrioventricular canal defect,... OMIM:611174
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Vasculitis, Urticaria, Abnormal oral cavity morphology, Purpura ORPHA:889
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Upper limb muscle weakness, Stroke, Total ... ORPHA:494424
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Depressed nasal bridge, Cleft upper lip, Deep philtrum, ... OMIM:206920
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Anal atresia OMIM:276950
C Syndrome
Omphalocele, Hepatomegaly, Short metacarpal, Ventricular septal defect, Anteverted nares, Accesso... OMIM:211750
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect OMIM:619306
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytope... ORPHA:520
Fanconi Anemia, Complementation Group F
Atrial septal defect, Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia ... OMIM:603467
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas... ORPHA:508488
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial p... OMIM:243605
Sonoda Syndrome
High axial triradius, Ventricular septal defect OMIM:270460
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... OMIM:229850
Sotos Syndrome
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Anteverted nares, Depress... OMIM:117550
Maternal Phenylketonuria
Ventricular septal defect, Anteverted nares, Micrognathia, Esophageal atresia, Wide nasal bridge,... ORPHA:2209
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t... OMIM:212780
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit... ORPHA:2260
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hy... ORPHA:824
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney d... ORPHA:2461
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Noonan Syndrome 3
Atrial septal defect, Ventricular septal defect, Sagittal craniosynostosis, Polyhydramnios, Pectu... OMIM:609942
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S... OMIM:211960
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrot... ORPHA:2326
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Ventricular ... OMIM:618619
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo... OMIM:616894
Hydrolethalus
Anophthalmia, Micromelia, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft... ORPHA:2189
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... ORPHA:411986
Pallister-Hall Syndrome
Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Micropenis, Distal sh... OMIM:146510
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Ventricular septal defect, Narrow chest, Polyhydramnios OMIM:615731
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Leukopenia,... ORPHA:99828
Boudin-Mortier Syndrome
Joint laxity, Mallet finger, Long toe, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip... OMIM:619543
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Hypertro... OMIM:619053
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Microretrognathia, Ventricular septal defect, Depressed nasal brid... ORPHA:1692
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... ORPHA:96097
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Atri... ORPHA:1035
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ... ORPHA:2538
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Bulbous nose, Trach... ORPHA:1780
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Mi... OMIM:300887
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, Hepatomegaly, Hamartoma o... OMIM:269860
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Mirage Syndrome
Hypergonadotropic hypogonadism, Petechiae, Adrenal hypoplasia, Cryptorchidism, Esophageal strictu... OMIM:617053
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Mediastinal lymphadenopathy OMIM:234810
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Renal... OMIM:614815
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl... OMIM:618955
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... ORPHA:3138
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... OMIM:611867
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch... OMIM:312870
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Single transverse palmar cre... ORPHA:221120
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal nostril morphology, Narrow mouth, Atrial septal defect, Micro... ORPHA:3469
Distal Duplication 15Q
Omphalocele, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Downt... ORPHA:1707
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,... OMIM:192350
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteri... OMIM:617397
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalan... OMIM:618419
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormal tibia morphology, Abnormality of the ureter, Hypospadias ORPHA:2487
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Gastroesophageal reflux, Hernia, Abnorma... ORPHA:2092
Chime Syndrome
Short palm, Abnormal dental morphology, Ventricular septal defect, Aplastic clavicle, Abnormality... ORPHA:3474
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Intestinal malrotation, Adrenal hypoplasia, Micrognathia, Hypoplasia of the premaxil... ORPHA:2166
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Joint hyperflexibility, Tricuspid valve prol... ORPHA:96129
Renpenning Syndrome
Mandibular prognathia, Macrodontia, Prominent nose, High, narrow palate, Cleft palate, Heterotaxy... ORPHA:3242
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Cutaneous photosensitivity, Arthrogryposis multiplex ... OMIM:616570
Fanconi Anemia, Complementation Group W
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Polysplenia, Abnormal radial ray morpho... OMIM:617784
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly... OMIM:612840
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hep... OMIM:613610
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Gastrointes... OMIM:619189
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Pate... OMIM:277380
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Abnormal heart morphology OMIM:600252
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint contracture of the... OMIM:618914
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... OMIM:147250
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect, ... ORPHA:93946
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Cl... ORPHA:261197
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Bilateral single transverse palmar creases, Ventricular septal defect, Renal hypo... ORPHA:2516
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anter... ORPHA:2315
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor... ORPHA:980
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal shoulder morphology, C... ORPHA:2345
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Gastroesophageal reflux, Atrial septal de... OMIM:194190
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... ORPHA:1104
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Hepatomegaly, Depressed nasal bridge, Cleft lip, Pulmonary a... OMIM:280000
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Cleft ala nasi, Cleft palate OMIM:164180
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Patent foramen ovale, Anteverted n... OMIM:618454
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Macroglossia, D... OMIM:275100
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruptio... OMIM:618506
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged... ORPHA:849
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... OMIM:618021
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asple... OMIM:185070
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Panhypop... ORPHA:2162
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... OMIM:613235
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Boutonneuse Fever
Petechiae, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Emanuel Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep... ORPHA:96170
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect OMIM:620062
Esophageal Atresia
Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal ... ORPHA:1199
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ... ORPHA:2745
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phocomelia, Wrist f... OMIM:268300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... OMIM:619758
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Vascular ring, Knee fl... OMIM:603387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Ventricular s... OMIM:620210
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, High, narrow palate, Cryptorchi... ORPHA:96092
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... OMIM:600987
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Omphalocele, Increased T3/T4 ratio, Congenital hypothyroidism, Macrogl... OMIM:614450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arte... ORPHA:77298
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,... OMIM:619717
Snakebite Envenomation
Abnormal bleeding, Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Intracranial hemorrh... ORPHA:449285
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... ORPHA:1842
Trigonocephaly 1
Omphalocele, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum OMIM:190440
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... ORPHA:391641
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Depressed nasal bridge, Cutis marmorata, Hernia, Microphthalmia, Leuke... OMIM:602501
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxial hand polydacty... OMIM:175700
9q subtelomeric deletion syndrome
Short nose, Abnormal heart morphology, Anteverted nares, Protruding tongue DECIPHER:52
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, High, narrow palate, Deep philtrum, Knee fle... ORPHA:435638
Alagille Syndrome 1
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Hypoplasia of ... OMIM:118450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Tick-Borne Encephalitis
Stiff neck, Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal auto... ORPHA:297
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Broad nas... OMIM:222448
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Patent ductus... OMIM:612561
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hyp... OMIM:200995
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nose... OMIM:301022
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... OMIM:619227
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... ORPHA:290
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Anteverted nar... OMIM:247200
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Short thumb, Patent ductus arteriosus, Abnormal cardiac septum morpholo... ORPHA:2712
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disea... ORPHA:540
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... OMIM:614922
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly OMIM:607539
Miller-Dieker Syndrome
Omphalocele, Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis, Tetral... OMIM:615542
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Micromelia, Hypoplasia of the rad... OMIM:617895
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... OMIM:611555
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c... OMIM:618652
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Submucous cleft hard palate, Renal hypoplasia, Aortic valve stenosis, Hypop... OMIM:617660
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic stenosis, Atrial... OMIM:611816
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Atrial septal defect, Anteverted nares, Micrognathia, Delayed erupti... OMIM:619356
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Joint hyperflexibility... ORPHA:2412
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad... OMIM:613792
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Widely spaced teeth, ... OMIM:612474
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Anemia, Thrombocytopenia ORPHA:231111
Catel-Manzke Syndrome
Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Overriding aorta, Cleft u... OMIM:616145
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pulmonary sequestration, Atrial... OMIM:618330
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
8Q12 Microduplication Syndrome
Short foot, Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology ORPHA:228399
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... ORPHA:487796
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinoda... ORPHA:2475
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, H... ORPHA:79477
Bilateral Polymicrogyria
Arthrogryposis multiplex congenita, Facial diplegia, Talipes equinovarus, Abnormal glossopharynge... ORPHA:268940
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma ORPHA:221098
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
3C Syndrome
Hypoplasia of penis, High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal r... ORPHA:7
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Overriding ao... ORPHA:3186
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Abnorm... ORPHA:83473
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... OMIM:620024
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... OMIM:601355
Alg12-Cdg
Redundant skin, Micrognathia, Short philtrum, Gastroesophageal reflux, Patent foramen ovale, Recu... ORPHA:79324
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... OMIM:192430
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Natal tooth, Microretrognathia, Rhizomelia, Hamartoma of tongue, Prominent nose, Cle... OMIM:616300
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... ORPHA:66625
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, High, narrow palat... ORPHA:2849
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Anteverted nares, De... ORPHA:404440
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly ORPHA:2432
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... OMIM:609821
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Purpura OMIM:614380
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... ORPHA:99104
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality... ORPHA:1046
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... OMIM:236500
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Flared metaphysis, Hip disloca... OMIM:309350
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal ... ORPHA:477817
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... ORPHA:2549
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Tufted Angioma
Petechiae, Thrombocytopenia, Hemangioma of the lip, Anemia, Purpura ORPHA:1063
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of kidney, Uln... ORPHA:921
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Abnorm... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... OMIM:614576
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... ORPHA:3033
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, High palate, Micropenis, Atrioventricular canal defect OMIM:618929
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... ORPHA:2842