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
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal de... OMIM:270100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Cleft palate, Polydactyly, Abnormal heart morphology, Congenital malformation of ... ORPHA:294975
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Truncus arteriosus, Hepatic fi... OMIM:615415
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Prominent nose, Micrognathia, Cleft palate, Microphthalmia, Anophthalmia OMIM:221950
Meacham Syndrome
Bicuspid aortic valve, Aplasia of the left hemidiaphragm, Patent ductus arteriosus, Accessory spl... OMIM:608978
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Micrognathia, Cleft upper lip, Double outlet right ventr... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Broad nasal tip, Microphthalmia... OMIM:615524
Hypoglossia With Situs Inversus
High palate, Asplenia, Situs inversus totalis, Microglossia, Polysplenia OMIM:612776
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Isomerism, Urethral atresia, Atrioventricular canal defect, Proximal placement of... OMIM:314390
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Situs inv... ORPHA:244
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Triphalangeal thumb, Phocomelia, Atriovent... ORPHA:392
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Cardiac-Urogenital Syndrome
Patent urachus, Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Abnormal lung lobati... ORPHA:1120
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Abnormal aortic arch morphology, Ventricular septal defect... ORPHA:860
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Arachnodactyly, Transposition of the great arter... ORPHA:261243
Meacham Syndrome
Horseshoe kidney, Abnormality of the spleen, Conotruncal defect, Ventricular septal defect, Aplas... ORPHA:3097
Holzgreve Syndrome
Renal hypoplasia, Cleft palate, Renal agenesis, Hypoplastic left heart, Hand polydactyly OMIM:236110
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Patent ductus arteriosus, Aortic valve stenosis, Hepatic fibrosis, Asplenia, Hep... OMIM:208540
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Hydronephrosis, Ventricular septal defect, Aganglionic megacolon, Asplenia... ORPHA:210122
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Diastema, Short philtrum, Atrioventricular canal defect, ... OMIM:619142
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Recu... OMIM:613807
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Duodenal atresia, Partial atrioventricular canal defect, Situs inver... OMIM:619608
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Hepatic fibrosis, Esophageal var... OMIM:616589
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Abnormality of the ... ORPHA:1666
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Microgastria, Aganglionic megacolon, Hand oligodactyly,... OMIM:156810
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... OMIM:217085
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Renal agenesis, Cleft palate, Pulmonary hypoplasia, Renal... ORPHA:1335
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Cleft palate, Asplenia, Atrioventricular can... OMIM:619123
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Pseudotrisomy 13 Syndrome
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Renal agenesis, Complete atrioventricu... OMIM:264480
Hadziselimovic Syndrome
Renal hypoplasia, Ventricular septal defect, High palate, Ventricular hypertrophy, Anal atresia, ... OMIM:612946
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Carpenter Syndrome 1
Genu varum, Hydroureter, Joint contracture of the hand, Patent ductus arteriosus, Deviation of fi... OMIM:201000
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, High palate, Short nose, Transpo... ORPHA:1913
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Wide nasal bridge, Delayed ... ORPHA:2863
Diabetic Embryopathy
Ureteral duplication, Hydronephrosis, Abnormal aortic morphology, Aplasia/Hypoplasia of the abdom... ORPHA:1926
Meckel Syndrome, Type 1
Cleft palate, Patent ductus arteriosus, Splenomegaly, Foot polydactyly, Accessory spleen, Syndact... OMIM:249000
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Renal cyst, Syndactyly, Mesomeli... OMIM:228940
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Long philtrum OMIM:218010
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Depressed nasal bridge, Hypoparathyr... ORPHA:3426
Eng-Strom Syndrome
Ventricular septal defect, Pectus excavatum, Arthritis, Abnormal cardiac septum morphology, Campt... ORPHA:1937
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Bilateral lung agenesis, Ventricu... OMIM:601186
Cat Eye Syndrome
Renal agenesis, Cleft palate, Abnormal heart morphology, Total anomalous pulmonary venous return,... OMIM:115470
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:611884
Mosaic Trisomy 9
Cleft palate, Talipes equinovarus, Renal dysplasia, Patent ductus arteriosus, Camptodactyly of fi... ORPHA:99776
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Meier-Gorlin Syndrome 7
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndactyl... OMIM:617063
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... OMIM:610205
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent... OMIM:615482
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Micrognathia, Cleft pa... ORPHA:1727
Burn-Mckeown Syndrome
Abnormal palate morphology, Bilateral choanal atresia, Short nose, Wide nasal bridge, Prominent n... ORPHA:1200
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, P... OMIM:265380
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Han... OMIM:249670
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares ORPHA:2015
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, High palate, Depressed nasal bridge, Micrognathia, Long philtrum, Shor... ORPHA:261120
Distal Trisomy 17Q
Hallux valgus, Cleft palate, High palate, Abnormal heart morphology, Rhizomelia, Renal duplicatio... ORPHA:3379
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Hypoplastic left heart, Broad hallux, Broad thumb, Clinodactyly of the 5th finger, P... OMIM:610543
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Bifid nose, Median cleft palate, Median cleft lip OMIM:619452
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal ilium morphology, Cleft palate, Urogenital sinus anomaly, Syndactyly, Abnor... ORPHA:1505
Orofaciodigital Syndrome Xvii
Renal hypoplasia, High, narrow palate, Polydactyly, Micropenis, Tetralogy of Fallot, Partial dupl... OMIM:617926
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Short toe, Umbilical h... OMIM:615297
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Abnormality of mesentery morphology, Short long bone... ORPHA:2256
Acitretin/Etretinate Embryopathy
Conotruncal defect, Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Aplasia/hypopla... ORPHA:40366
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respiratory ... OMIM:615067
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Micrognathia, Microphthalmia, Short philtrum, Rhizomelia,... ORPHA:93267
Cranioacrofacial Syndrome
Abnormal hand morphology, Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short 5th metacarpal, Pierre-Robin sequence, Long philtrum, Short nose, Perimembrano... OMIM:617877
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus OMIM:619607
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Total anomalous pulmonary venous return, Abnormal heart morphology, Co... ORPHA:261183
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Patent ductus arteriosus, Hypoplastic left heart, Chronic kidney di... OMIM:617661
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Patent ductus arteriosus, Finger syndactyly, Ge... ORPHA:65759
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... ORPHA:52056
Meckel Syndrome
Ureteral duplication, Cleft palate, Pancreatic cysts, Asplenia, Urethral atresia, Situs inversus ... ORPHA:564
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Micrognathia, Cleft palate, High palate, Cleft upper lip... OMIM:616145
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Me... OMIM:615994
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Cleft palate, Dysphagia, High, narrow palate, A... OMIM:618494
Gombo Syndrome
Abnormal heart morphology, Microphthalmia, Delayed puberty OMIM:233270
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Micrognathia, Broad nasal tip, Omphalocele, Long philtrum, Short nose, Abs... OMIM:618529
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmo... ORPHA:2184
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Truncus Arteriosus
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... ORPHA:3384
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomega... OMIM:301068
Catel-Manzke Syndrome
Ventricular septal defect, Pectus excavatum, Abnormality of epiphysis morphology, Atrial septal d... ORPHA:1388
Sandestig-Stefanova Syndrome
Convex nasal ridge, High palate, Microphthalmia, Perimembranous ventricular septal defect, Wide n... OMIM:618804
Prune Belly Syndrome
Talipes equinovarus, Volvulus, Patent ductus arteriosus, Urogenital sinus anomaly, Recurrent resp... ORPHA:2970
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Duodenal stenosis, Abnormal tricuspid valve morphology, Intestinal ma... ORPHA:1759
Poland Syndrome
Dextrocardia, Unilateral hypoplasia of pectoralis major muscle, Unilateral brachydactyly, Hypopla... OMIM:173800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Smooth philtrum, Long nose, Abnormal heart morphology, Perimembranous ventricular ... ORPHA:363444
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Split foot OMIM:601348
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return, Anemia, Acetabular dysplasia, Erythroid hypoplasia OMIM:618313
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Doubl... OMIM:179613
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Abnormal aortic morphology, High palate, Atrioventricu... ORPHA:251071
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent ur... OMIM:613095
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Congenital Sialidosis Type 2
Telangiectasia, Hepatomegaly, Hypoplasia of the fovea, Petechiae, Cherry red spot of the macula, ... ORPHA:93400
17Q21.31 Microduplication Syndrome
Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Anteverted nares, Abnorm... ORPHA:217340
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Fryns Syndrome
Omphalocele, Cleft palate, Duodenal atresia, Anteverted nares, Micrognathia, Abnormal aortic morp... ORPHA:2059
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:618063
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Cleft palate, Double outlet righ... OMIM:220210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Ventricular septal defect, High palate, Weakness ... OMIM:619418
Meckel Syndrome, Type 8
Depressed nasal ridge, Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Short nose OMIM:613885
Acropectoral Syndrome
Pectus excavatum, Triphalangeal thumb, Pectus carinatum, Preaxial polydactyly, Partial duplicatio... OMIM:605967
Mmep Syndrome
Ventricular septal defect, Microphthalmia, Mandibular prognathia, Cryptorchidism, Median cleft li... ORPHA:3434
Lethal Congenital Contracture Syndrome 10
Omphalocele, Ventricular septal defect, Micrognathia, High palate, Long philtrum, Hypoplasia of t... OMIM:617022
Down Syndrome
Complete atrioventricular canal defect, Broad palm, Aganglionic megacolon, Duodenal stenosis, Hyp... OMIM:190685
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Micrognathia, Everted upper lip vermilion, Depressed nasal bridge, Dysphagia, Petec... OMIM:608013
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Postaxial polydactyly, Short ribs, Polyhydramni... OMIM:615503
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory i... OMIM:616037
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst, Short 5th finger, Hip dislocation, Abnormal cardiac... OMIM:615583
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Prolidase Deficiency
Hepatomegaly, Diffuse telangiectasia, Micrognathia, Depressed nasal bridge, High palate, Petechia... OMIM:170100
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short toe, Proximal pl... OMIM:613458
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Omphalocele, Long ... OMIM:608149
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Preaxial polydactyly,... OMIM:618142
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Unilateral vertebral artery hypoplasia, S... OMIM:613686
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Pancreatic hypoplasia, Truncus arteriosus, Aplasia of the left hemidiaphragm, ... OMIM:600001
Czeizel-Losonci Syndrome
Dextrocardia, Hydronephrosis, High palate, Radial deviation of the thumb, Abnormality of the urin... ORPHA:2437
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Pulmonary hypoplasia, Abnormal descen... ORPHA:99050
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Convex nasal ridge, Abnormal mitral valve morphology, M... ORPHA:1277
Ellis Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Cubitus valgus, Foot polydactyly, Hand polydactyly, Abnormal... ORPHA:289
Feingold Syndrome 2
Ventricular septal defect, 2-3 toe syndactyly, 3-4 toe syndactyly, Short middle phalanx of the 5t... OMIM:614326
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Wide mouth, Macroglossia, Transposition of the great arteries, Bulbous no... OMIM:616789
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Oral cleft OMIM:611638
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Smooth philtrum, Depressed nasal bridge, Double outlet right ventricle... OMIM:618316
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Micrognathia, High palate, Persistent left superior vena cava, Double outl... ORPHA:3304
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Tapered distal phalang... OMIM:106700
Even-Plus Syndrome
Renal hypoplasia, High palate, Dysplasia of the femoral head, Epiphyseal dysplasia, Anal atresia,... OMIM:616854
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Ververi-Brady Syndrome
Prominent nose, Broad nasal tip, Smooth philtrum, High palate, Wide mouth, Wide nose, Transpositi... OMIM:617982
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Dislocated radial head,... ORPHA:401935
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Upper limb asymmetry... ORPHA:3266
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Long philtrum, Short nose, Small ... OMIM:145420
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Cleft palate, Hi... OMIM:609029
Marcus-Gunn Syndrome
Abnormal heart morphology, Abnormal fifth cranial nerve morphology ORPHA:91412
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Gastrointestinal infarctions, Petechiae, Splenomegaly,... ORPHA:91138
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Epiphyseal stippling, Glossoptosis, Elevated circulating... OMIM:614876
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Feingold Syndrome 1
2-3 toe syndactyly, High palate, 4-5 toe syndactyly, Duodenal atresia, Asplenia, Aplasia/Hypoplas... OMIM:164280
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Talipes equinovarus, Double outlet right ventricle, Patent ductus arterios... OMIM:618845
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Hand oligodactyly, Pierre-Robin sequence OMIM:172880
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse, Petechiae, Striae distensae, Atypical scarring of skin, Bruising susceptib... OMIM:225310
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Asplenia, Situs inversus totalis, Bronchiectasis OMIM:244400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Ventricular septal defect, Interface hepatitis, Hypoplasia of the thymus, Intestinal... OMIM:243150
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous ventricular septal ... OMIM:611376
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, ... OMIM:614294
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Ventricular septal defect, Atrial septal defect, Postaxial hand polydactyly, Pu... ORPHA:75389
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Patent d... OMIM:615382
Marden-Walker Syndrome
Dextrocardia, Pyloric stenosis, Micrognathia, Cleft palate, High palate, High, narrow palate, Mic... OMIM:248700
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Wide nose, Wide nasal bridge, Atrial septal defect, Microretrognathia, Patent foramen ... ORPHA:89844
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue, ... OMIM:617925
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the aorta, Patent ductus arteri... ORPHA:228190
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Hydronephrosis, Ventricular septal defect, U... OMIM:236680
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Mitral valve prolapse, Small hand, Pulmonic stenosis, Abnormal heart valve morphology, Clinodacty... ORPHA:2868
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Bifid uvula, Hypom... OMIM:608572
Frontonasal Dysplasia 1
Broad nasal tip, Frontal cutaneous lipoma, Microphthalmia, Hypoplastic frontal sinuses, Short col... OMIM:136760
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Vascular dilatation, Short humerus, Up... OMIM:607323
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... OMIM:147750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement... OMIM:609945
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Small hand, Pate... OMIM:612863
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Congenital diaphr... DECIPHER:39
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Pseudocoarctation of the aorta, Patent... OMIM:604381
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Median cleft lip and palate, Mandibular aplasia, Short nose,... ORPHA:1832
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Cutaneous photosensitivity, Arthrogryposis multiplex ... OMIM:616570
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Glossoptosis, Micropenis, Ankyloglossia OMIM:618021
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Petechiae, Erythema, Multiple gastric polyps, Cardiomyopathy, S... OMIM:225750
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Petechiae, Epistaxis, Nodul... OMIM:619463
Chromosome 9P Deletion Syndrome
Omphalocele, Ventricular septal defect, Micrognathia, Depressed nasal bridge, High palate, High, ... OMIM:158170
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Mental Retardation, X-Linked 91
High palate, Short nose, Small hand, Short 5th finger, Short foot, Macrodontia OMIM:300577
Congenital Total Pulmonary Venous Return Anomaly
Mitral atresia, Single ventricle, Patent ductus arteriosus, Supracardiac total anomalous pulmonar... ORPHA:99125
Triploidy
Hepatomegaly, Micrognathia, Omphalocele, Abnormality of the gallbladder, Cleft palate, Wide mouth... ORPHA:3376
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Celiac disease, Congenital posterior urethral valve, Persistent left... OMIM:136140
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... ORPHA:1909
Primary Pulmonary Hypoplasia
Dextrocardia, Cleft palate, Abnormal hemidiaphragm morphology, Pneumothorax, Recurrent respirator... ORPHA:2257
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, High palate, Depressed nasal bridge, Short nose, Everted lower ... ORPHA:1695
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Ventricular septal defect, Neutropenia, Bone marrow hypocellu... OMIM:609053
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Thoracoabdominal Syndrome
Omphalocele, Ectopia cordis, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Pate... OMIM:313850
Trisomy 13
High, narrow palate, Ventricular septal defect, Cleft palate, Microphthalmia, Long philtrum, Anop... ORPHA:3378
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter, Cleft palate, Congenital diaphragmatic hernia, Finger syn... ORPHA:2311
Congenital Tracheomalacia
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... ORPHA:95430
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Omphalocele, P... OMIM:601927
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Omphalocele, Long philtrum, Short nose, Thin vermilion border, Downturned ... ORPHA:1906
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia, Respiratory infections in early life OMIM:248110
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Malar fla... ORPHA:1919
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Micrognathia, High palate, Eruption failure, Long philtru... ORPHA:476126
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Paten... OMIM:212093
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial se... ORPHA:101028
Bardet-Biedl Syndrome 8
Hypospadias, Situs inversus totalis, Polydactyly, Renal dysplasia OMIM:615985
Desmosterolosis
Metatarsus adductus, Renal agenesis, Cleft palate, Bifid uvula, Patent ductus arteriosus, Splenom... ORPHA:35107
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hematu... OMIM:614034
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Short nose, Retrognathia, Anteverted nares OMIM:614069
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Spontaneous hematom... ORPHA:849
Floating-Harbor Syndrome
Hypospadias, Dilatation of the renal pelvis, Renal agenesis, Celiac disease, Nephrocalcinosis, Re... ORPHA:2044
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Congenital diaphragmatic her... ORPHA:1166
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Hand oligodactyly, Microphthalmia, Cleft upper... OMIM:206920
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Hypoplasia of the thymus, Patent duc... ORPHA:84064
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Decreased liver function, Hepatic fibrosis ORPHA:306550
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Coarctation of aorta, Short 5th fing... OMIM:600987
C Syndrome
Hepatomegaly, Ventricular septal defect, Micrognathia, Cutis laxa, Omphalocele, High palate, Wide... OMIM:211750
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Bil... OMIM:267010
Sonoda Syndrome
Ventricular septal defect, High axial triradius OMIM:270460
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Pulmonary hypopla... ORPHA:2260
Pseudo-Torch Syndrome 1
Hepatomegaly, High palate, Petechiae, Long philtrum, Splenomegaly, Anteverted nares, Thrombocytop... OMIM:251290
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Mandibular p... ORPHA:1248
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Duodenal atresia, Leukopenia, Pneumonia, Pelvic kidney, Bone marrow hypocellula... OMIM:603467
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Polydactyly, Brachydactyly OMIM:617405
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Flexion contracture OMIM:619306
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Omphalocele, Smooth philtrum, Abnorm... OMIM:263210
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Shield chest, Mitral valve prolapse, Pect... OMIM:609942
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cutaneous Small Vessel Vasculitis
Abnormal oral cavity morphology, Erythema, Urticaria, Cutis marmorata, Vasculitis, Purpura ORPHA:889
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Myopathy, Cleft palate, Duodenal atresia, Jejunal atr... OMIM:243605
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, High palate, Long philtrum, Double outlet right ventricl... ORPHA:2209
Primary Myelofibrosis
Ecchymosis, Portal hypertension, Leukocytosis, Hepatomegaly, Thrombocytosis, Pancytopenia, Petech... ORPHA:824
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, High palate, Arachnodactyly, Genu valgum, Sandal gap, Atrial septal de... ORPHA:1035
Marden-Walker Syndrome
Hypospadias, Pyloric stenosis, Cleft palate, Renal dysplasia, Camptodactyly of finger, Abnormal a... ORPHA:2461
Acute Promyelocytic Leukemia
Ecchymosis, Leukocytosis, Neutropenia, Gingival bleeding, Petechiae, Pancytopenia, Lymphadenopath... ORPHA:520
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hydronephrosis, Acute lymphoblastic leukemia, Ventricular septal defect, Cleft palate, Peripheral... OMIM:280000
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Depressed nasal bridge, Abnormal heart morphology, Short nose, Microg... OMIM:241800
Distal Trisomy 5Q
Dextrocardia, Carious teeth, Ventricular septal defect, Micrognathia, Long philtrum, Aplasia/Hypo... ORPHA:96097
Cranioectodermal Dysplasia 2
Cholangitis, Cleft palate, Portal fibrosis, Patent ductus arteriosus, Splenomegaly, Syndactyly, H... OMIM:613610
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptoda... OMIM:211960
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Anteriorly placed anus, Atrioventricular canal defect, Absent radius, ... OMIM:600123
Fryns Syndrome
Hypospadias, Cleft palate, Duodenal atresia, Aplasia of the left hemidiaphragm, Joint contracture... OMIM:229850
Vacterl Association With Hydrocephalus
Renal hypoplasia, Radial club hand, Abnormal heart morphology, Anal atresia, Absent thumb OMIM:276950
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Cleft palate, Facial palsy, Patent ductus arteriosus, Right aortic arc... OMIM:147770
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis, Truncus arteriosus, Pulmonary hypoplasia OMIM:274210
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... ORPHA:2143
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Renal agenesis, Cleft palate, Double outlet right ven... ORPHA:2326
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Cleft palate, Short nose, Patent ductus arteriosus, Cleft lip, Camptodactyly, Anteve... OMIM:616894
Thakker-Donnai Syndrome
Ventricular septal defect, Rectovaginal fistula, Congenital diaphragmatic hernia, Anal atresia, T... ORPHA:1780
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatomegaly, Myopathy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Ca... OMIM:614922
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, Neutropenia, High palate, Leukopenia, Monocytosis, Hypoplasia of the ... OMIM:612541
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Duplication of phalanx of hallux, Polyhydramnios, Syndacty... OMIM:263630
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Short greater sciatic notch, Cleft palate, Talipes equinovarus, Broad toe, Patent du... OMIM:312870
Mosaic Trisomy 1
Thick lower lip vermilion, Omphalocele, Ventricular septal defect, Cleft palate, Depressed nasal ... ORPHA:1692
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Simpson-Golabi-Behmel Syndrome
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Talipes equinova... ORPHA:373
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Omphalocele, Ventricular septal defect, Bilateral cleft lip and palate, Cleft upper lip, ... OMIM:601357
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Microglossia, Distal shortening of limbs, Patent ductus arteriosus... OMIM:146510
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Proximal placement of thumb, Dextrotranspositio... OMIM:618619
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Trisomy 1Q
Omphalocele, Ventricular septal defect, Cleft palate, Depressed nasal bridge, Anophthalmia, Conge... ORPHA:261344
Rhiny
Anteverted nares, Short nose, Thin vermilion border OMIM:180360
Ulnar-Mammary Syndrome
Pyloric stenosis, Renal hypoplasia, Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia o... ORPHA:3138
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Talipes equinovarus, Long fingers, Patent ductus arteriosus, Slender finge... OMIM:613355
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Long philtrum, Short nose, Wide nasal bridge, Vascular dilatation, Anteve... OMIM:616430
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Hepatomegaly, Ketonuria, High palate, Single trans... OMIM:619053
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Renal dysplasia, Renal cyst, Arthrogry... OMIM:236500
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Microphthalmia, Cleft upper lip, Anophthalmia, Solitary median maxillary centr... OMIM:147250
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... OMIM:614300
Distal Trisomy 15Q
Omphalocele, Micrognathia, High palate, Long philtrum, Prominent nasal bridge, Anal atresia, Down... ORPHA:1707
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Micropenis, Tetralogy of Fallot, Microphallus OMIM:615542
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Ventricular septal defect, Abnormal aortic morphology, Renal agenesis, Trunc... ORPHA:2516
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares ORPHA:1355
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Hepatomegaly, Primum atrial septal defect, Displacement o... ORPHA:1329
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arterial fibromuscular dysplasia, Arteriosclerosis, Vasc... ORPHA:494424
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis, Tetralogy of Fallot ORPHA:251076
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Cleft palate, Smooth philtrum, Truncus arteriosus, Malar flattening, T... OMIM:611867
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis OMIM:234810
Distal Monosomy 19P13.3
Ventricular septal defect, Tricuspid valve prolapse, Arachnodactyly, Long toe, Pulmonary valve at... ORPHA:96129
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Duodenal atresia, Hypoplasia of the radius, Absent thumb, Polysplenia, Abnormal... OMIM:617784
Roberts-Sc Phocomelia Syndrome
Hypospadias, Cleft palate, Phocomelia, Patent ductus arteriosus, Accessory spleen, Syndactyly, El... OMIM:268300
Boudin-Mortier Syndrome
Pseudoepiphyses of the middle phalanges of the hand, Pectus excavatum, Mitral valve prolapse, Lon... OMIM:619543
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Truncus arteriosus, Phocomelia, Renal dysplasia, Aplastic clavicle, Abnormality of ... ORPHA:2538
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, High palate, Depressed nasal bridge, Broad nasal tip, Long philtrum, Atrioventricul... OMIM:613792
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Petechiae, Epistaxis, Anemia, Abnormality of the lymph nodes, Splenom... OMIM:612840
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Prolonged bleeding following circumcision, Bruising suscepti... ORPHA:331
Hydrolethalus
Micrognathia, Cleft palate, Microphthalmia, Anophthalmia, Gingival cleft, Bifid uvula, Unilateral... ORPHA:2189
Pseudoaminopterin Syndrome
Horseshoe kidney, High palate, Asplenia, Postaxial polydactyly, Clinodactyly of the 5th toe, Syno... ORPHA:221120
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the spleen, Abnormality of tibia morphology, Abnormality of the ureter ORPHA:2487
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Postaxial polydactyly, Knee fl... OMIM:603387
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Mckusick-Kaufman Syndrome
Cleft palate, Patent ductus arteriosus, Urogenital sinus anomaly, Finger syndactyly, Ventricular ... ORPHA:2473
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Atrial septal defect, Type E brachydactyly OMIM:113301
Vater/Vacterl Association
Hypospadias, Patent urachus, Triphalangeal thumb, Renal dysplasia, Patent ductus arteriosus, Hypo... OMIM:192350
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal cranial nerve morphology, Abnormal vertebral segmentation and... ORPHA:2345
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality ... ORPHA:1842
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Patent ductus arteriosus, Splenomegaly, Medullary nephrocalcinosis, Syndactyly,... OMIM:619534
Focal Dermal Hypoplasia
Omphalocele, Duodenal atresia, Abnormal dental enamel morphology, Short ribs, Patent ductus arter... ORPHA:2092
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Postaxial foot polydactyly, ... OMIM:615981
Li-Campeau Syndrome
Ventricular septal defect, Gastrointestinal dysmotility, Patent ductus arteriosus, Micropenis, At... OMIM:619189
Mirage Syndrome
Adrenal insufficiency, Intracranial hemorrhage, Leukopenia, Petechiae, Anemia, Patent ductus arte... OMIM:617053
Renpenning Syndrome
Prominent nose, High, narrow palate, Cleft palate, Short philtrum, Mandibular prognathia, Heterot... ORPHA:3242
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Patent ductus arteriosus, Syndactyly, ... OMIM:142900
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microphthalmia, Anal atresia, Atrial septal defect, Narrow mouth, Abno... ORPHA:3469
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Dysph... ORPHA:96170
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal aortic valve morphology, Congenital diaphr... ORPHA:261197
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Pericardial effusion, Pulmonary capillary hemangiomatosis, Lymphaden... ORPHA:199241
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Hypoplasia of th... OMIM:222448
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Short lower limbs, Small hand, Pulmonic stenosis, Radial deviation of finger, Abnormal heart valv... OMIM:126190
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Renal dysplasia, Prolonged neonatal jaundice, Ventricular s... OMIM:118450
Wolf-Hirschhorn Syndrome
Hypospadias, Cleft palate, Talipes equinovarus, Accessory spleen, Radioulnar synostosis, Ventricu... OMIM:194190
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatic fibrosis, Esophageal varix, Postaxial polydactyly, Micronodular ci... OMIM:618955
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal hemidiaphragm morphology, Bronchiectasis, Abnormal heart morphology,... ORPHA:980
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Short philtrum, Anophthalmia, Prominent nasal bridge, Bulbous nose, Everted lowe... ORPHA:411986
Chime Syndrome
Depressed nasal ridge, Ventricular septal defect, Aplasia/Hypoplasia of the phalanges of the toes... ORPHA:3474
Johanson-Blizzard Syndrome
Hypospadias, Dextrocardia, Hydronephrosis, Anteriorly placed anus, Anemia, Malabsorption, Abnorma... ORPHA:2315
Craniofaciofrontodigital Syndrome
Ecchymosis, Depressed nasal bridge, Palmoplantar cutis laxa, Long philtrum, Abnormal heart morpho... OMIM:114620
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Ecchymosis, Menorrhagia, Increased mean platelet volume, Gingival bleeding, Petechiae, Stomatocyt... OMIM:153670
Wiskott-Aldrich Syndrome
Sinusitis, Inflammation of the large intestine, Neutropenia, Petechiae, Hypoplasia of the thymus,... ORPHA:906
Poland Syndrome
Hypospadias, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the ... ORPHA:2911
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, High, narrow palate, Micrognathia, Wide mouth, Long philtrum, Abnormal heart morpho... ORPHA:96092
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus, Short distal phalanx of finger, Unil... OMIM:601355
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cleft palate, Malar flattening, Wide nasal bridge, Atrial septal defect, Narrow mou... ORPHA:93946
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, 2-3 toe syndactyly, Pulmonic stenosis, Sandal gap, Joint contracture of the 4th... OMIM:618914
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Erythema, Prominent superficial blo... ORPHA:280779
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Patent ductus arteriosus, Splenomegaly, Short toe, Short long bone, Broad pa... OMIM:269860
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... OMIM:249270
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Abnormality of the metaphysis, Patent ductus art... ORPHA:290
Factor Xiii, B Subunit, Deficiency Of
Ecchymosis, Abnormal bleeding, Prolonged bleeding after surgery, Abnormal umbilical stump bleedin... OMIM:613235
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Cleft palate, Mitral stenosis, Bifid uvula, Atrial septal defect, Hypoplastic l... OMIM:617660
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Cleft palate, Anophthalmia, Non-midline cleft lip, Choanal atresi... ORPHA:1104
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc... OMIM:155050
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Boutonneuse Fever
Leukopenia, Petechiae, Lymphadenopathy, Vasculitis, Cervical lymphadenopathy, Thrombocytopenia ORPHA:83313
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short ... OMIM:249620
Feingold Syndrome Type 1
2-3 toe syndactyly, Short middle phalanx of finger, Tricuspid stenosis, Duodenal atresia, Renal d... ORPHA:391641
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Cleft palate, High palate, Hepatic fibrosis, Hypoplastic scapulae,... OMIM:614091
Holoprosencephaly
Omphalocele, Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Anterior hypopituitarism, ... ORPHA:2162
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Micrognathia, Cleft palate, Microphthalmia, Abnormal lung lobation, Thyroid hypoplas... ORPHA:2166
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Micromelia, Hepatic fibrosis, Extrapulmo... OMIM:200995
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Macroglossia, Anemia, Increased T3/T4 ratio, Delayed erup... OMIM:614450
Atrial Septal Defect 4
Coarctation of aorta, Patent foramen ovale, Atrial septal defect OMIM:611363
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Wide nose, Esophageal atresia, Tracheoesophageal fistula, Retrognathia, Muscula... OMIM:619227
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Atrial septal defect, Abnormal rib morphology, Clinodactyly ... ORPHA:2475
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Short ribs, Polyhydramnios, Preaxial polydactyly, Atria... OMIM:616546
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Increased mean... OMIM:612561
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Sandal gap, Clinodactyly ... ORPHA:2515
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Smooth philtrum, Depressed nasal bridge, Microphthalmia, Leukemia, Her... OMIM:602501
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
9q subtelomeric deletion syndrome
Anteverted nares, Abnormal heart morphology, Short nose, Protruding tongue DECIPHER:52
Esophageal Atresia
Pyloric stenosis, Omphalocele, Cleft palate, Duodenal atresia, Morphological abnormality of the g... ORPHA:1199
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Long philtrum, Short ribs, Hypopl... OMIM:617895
Marshall-Smith Syndrome
Omphalocele, Short nose, Malar flattening, Patent ductus arteriosus, Anteverted nares, Choanal at... OMIM:602535
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Hypoplastic facial bones, Omphalocele, Cleft palate, Microphthalmia, Pulmonary hy... OMIM:616300
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Short foot, Short metacarpal, Narrow m... OMIM:614078
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Aplasia of the nose, Micrognathia, Cleft palate, Duodenal atresia, Sep... OMIM:301043
Lowry-Maclean Syndrome
Abnormal heart morphology, Convex nasal ridge, Cleft palate, Delayed eruption of teeth OMIM:600252
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Tick-Borne Encephalitis
Stiff neck, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Facial... ORPHA:297
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
3C Syndrome
Hypospadias, Cleft palate, Finger syndactyly, Hand polydactyly, Recurrent respiratory infections,... ORPHA:7
Otopalatodigital Syndrome Type 2
Hydrocephalus, Increased bone mineral density, Camptodactyly of finger, Bowing of the long bones,... ORPHA:90652
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Microphthalmia, Anophthalmia, Esophageal atresia, Patent ductus arteri... ORPHA:77298
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Petechiae, Anemia, Thrombocytopenia ORPHA:231111
Smith-Lemli-Opitz Syndrome
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Epiphyseal stippling, Microgloss... OMIM:270400
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Patent ductus arterio... ORPHA:435638
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune thrombocyt... ORPHA:1959
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Ventricular septal defect, Narrow nose, High palate, Long nose, Congenital diaphra... OMIM:617602
8Q12 Microduplication Syndrome
Ventricular septal defect, Short foot, Abnormal cranial nerve morphology, Atrial septal defect ORPHA:228399
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Micrognathia, Cleft palate, Recurrent aspiration pneumonia, Duodenal atresia, Abnorm... OMIM:247200
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia OMIM:600776
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Abruzzo-Erickson Syndrome
Hypospadias, Toe syndactyly, Cleft palate, Ulnar deviation of finger, Abnormal localization of ki... ORPHA:921
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Cleft palate, Bifid uvula OMIM:258320
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Prominent interphalangeal joints, Long thorax, Mitral valve prolapse, Ad... OMIM:618371
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Congenital hip dislocation, Patent ductus arteriosus, Atrial septal defect, Vesicoureteral reflux... OMIM:601450
Opitz Gbbb Syndrome
Omphalocele, Cleft palate, Aortic root aneurysm, Enlarged ovaries, Patent ductus arteriosus, Clef... ORPHA:2745
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Cleft palate, Microphthalmia OMIM:164180
Adenylosuccinate Lyase Deficiency
Smooth philtrum, Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares ORPHA:46
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... OMIM:300972
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Anemia, Splenomegaly, Cholesta... ORPHA:540
Ciliary Dyskinesia, Primary, 40
Abnormal heart morphology, Situs inversus totalis OMIM:618300
Miller-Dieker Syndrome
Anteverted nares, Omphalocele, Short nose, Abnormality of upper lip ORPHA:531
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia of the nose, Microphthalmia, Phocomelia, Aplasia/Hypoplasia of the thumb, Mi... ORPHA:3186
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Cleft palate, Congenital diaphragmatic hernia, Coarctation of a... OMIM:618454
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Senior-Boichis Syndrome
Esophageal varix, Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal ... ORPHA:84081
Townes-Brocks Syndrome 1
Hypospadias, 2-3 toe syndactyly, Triphalangeal thumb, Duodenal atresia, Renal dysplasia, Short me... OMIM:107480
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, Cleft palate, Diastasis recti, Thin upper lip vermilion, Abnormal duodenum... OMIM:601776
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi... OMIM:611555
Oculofaciocardiodental Syndrome
Cleft palate, Peripheral pulmonary artery stenosis, Oligodontia, Delayed eruption of teeth, Paten... ORPHA:2712
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Redundant neck skin, Smooth philtrum, Microphthalmia, Cardiomegaly, Pr... OMIM:618652
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Pectus excavatum, Posterior rib fusion, Patent ductus arteriosus, Atri... OMIM:608406
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Tapered finger, Total anomalous pulm... ORPHA:487796
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Umbilical hernia, Broad thumb, 3-4 finger syndactyly, A... OMIM:175700
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Broad hallux, Ventric... ORPHA:508498
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Abnormal bleeding, Prolonged bleeding after surgery, Persistent bleeding a... OMIM:609821
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Abnormal bleeding, Thrombocyt... ORPHA:158029
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Short distal phalanx of toe, Shor... OMIM:619356
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Sandal gap OMIM:300887
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology, Arthrogryposis multiplex congenita, ... ORPHA:268940
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Inflammation of the large intestine, Pancytopenia, Esoph... OMIM:614576
Dengue Fever
Cerebral hemorrhage, Hepatomegaly, Gingival bleeding, Petechiae, Leukopenia, Epistaxis, Gastroint... ORPHA:99828
Perlman Syndrome
Hepatomegaly, Micrognathia, Smooth philtrum, High, narrow palate, Short nose, Wide nasal bridge, ... ORPHA:2849
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Hydronephrosis, Dysphagia, Postaxial polydactyly, Abnormal heart morphology, Pa... OMIM:618460
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytos... ORPHA:79477
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Prolonged prothrombin time, Patent ductus arteriosu... ORPHA:79324
Partial Deletion Of The Short Arm Of Chromosome 7
Hypospadias, Patent ductus arteriosus after birth at term, Cleft palate, Dysphagia, Aplasia of th... ORPHA:261911
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Orofacial Cleft 13
Micrognathia, Oligodontia, Cleft soft palate, Malar flattening, Retrognathia OMIM:613857
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vesse... ORPHA:464329
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Narrow mouth, Abnormal cardiac septum morphology ORPHA:2370
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Petechiae, Patent ductus arteriosus, Thrombocytopenia OMIM:617397
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Cleft palate, Ectopic anus, Atrioventricula... ORPHA:2549
Mcdonough Syndrome
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Pulmonic stenosis, Radial deviatio... OMIM:248950
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Meckel diverticulum, Morphological abnormality of the gastrointestinal tra... ORPHA:2847
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Complement Component 4A Deficiency
Vasculitis, Purpura, Cutaneous photosensitivity OMIM:614380
Carpenter Syndrome 2
Dextrocardia, Cutaneous finger syndactyly, High palate, Talipes equinovarus, Aplasia of the middl... OMIM:614976
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy,... OMIM:208085
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Congenital hip dislocation, Patent ductus arteriosus, Deviat... ORPHA:2412
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Hepatomegaly, Recurrent respiratory infections, Microphthalmia ORPHA:2432
Hydrocephalus With Associated Malformations
Short lower limbs, Micrognathia, Omphalocele, Lower limb undergrowth, Intestinal malrotation, Pul... OMIM:236640
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Hypodontia, High palate, Micrognathia, Short nose, Thick vermilion border, Dental crowding OMIM:617061
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndactyly, Tetralo... OMIM:601005
Melnick-Needles Syndrome
Pectus excavatum, Tibial bowing, Short clavicles, Mitral valve prolapse, Talipes equinovarus, Hyp... OMIM:309350
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal localization of kidney, Abnormal cardiac septum morphology, P... ORPHA:83473
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:608644
Ohdo Syndrome, X-Linked
Prominent nose, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Thin vermil... OMIM:300895
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Patent ductus arteriosus, Gastrointestinal hemorrhage, Unilateral renal agene... ORPHA:508488
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Micro... OMIM:613870
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology ORPHA:221098
Fibrochondrogenesis 1
Omphalocele, Cleft palate, Depressed nasal bridge, Hypoplastic scapulae, Posterior vertebral hypo... OMIM:228520
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Protruding tongue, Atrial septal defect, Syn... OMIM:300963
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pectus excavatum, Palmoplantar cutis laxa, Pulmonic stenosis, Atrial... OMIM:618499
Tufted Angioma
Petechiae, Anemia, Hemangioma of the lip, Purpura, Thrombocytopenia ORPHA:1063
Fetal Alcohol Syndrome
Micrognathia, Cleft palate, Smooth philtrum, Microdontia, Microphthalmia, Congenital diaphragmati... ORPHA:1915
Klippel-Trénaunay Syndrome
Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Upper lim... ORPHA:90308
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Genu v... OMIM:615630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Toe syndactyly, Renal agenesis, Bowing of the long bones, Patent d... ORPHA:171839
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polycystic kidney dysplasia... OMIM:211890
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal heart morphology, Micrognathia, Trismus OMIM:218450
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Abnormality of the abdominal organs, Convex nasal ridge, M... ORPHA:2409
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Single transverse palmar crease, Ventricular sept... OMIM:618870
Thanatophoric Dysplasia
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Short thorax, Abnormality of the... ORPHA:2655
Penile Agenesis