banner
Genes Phenotypes Help, News, Blog

Gene: Flna MGI:95556

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
filamin, alpha
Synonyms:
actin-binding protein 280,  F730004A14Rik,  GENA 379,  Fln1,  Dilp2,  ABP-280,  filamin-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Flna 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 Flna by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Melnick-Needles Syndrome
Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Coxa valga, Abnormal rib morpho... ORPHA:2484
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti... ORPHA:90652
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Omphalocele, Hypoplastic scapulae, Coxa valga, Flared m... OMIM:309350
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... OMIM:304120
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... ORPHA:88630
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Knee flexion contracture, Increased density of long ... OMIM:305620
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi... OMIM:314400
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Mitral... ORPHA:555877
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Short ... OMIM:300244
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... ORPHA:90650
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Frontometaphyseal Dysplasia
Metaphyseal widening, Short metatarsal, Oligodontia, Wrist flexion contracture, Short phalanx of ... ORPHA:1826
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Fg Syndrome 2
Broad hallux OMIM:300321
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Lipoatrophy, Intestinal malrotation ORPHA:2301

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adie Pupil
Tonic pupil OMIM:103100
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger OMIM:601355
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate OMIM:611867
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Brachydactyly, Ventricular septal defect, Intestinal malrotation, Short... ORPHA:401935
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Atypical scarring of ... ORPHA:294975
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, P... OMIM:601927
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus... ORPHA:2516
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... OMIM:613490
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth, Tet... OMIM:613630
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Ab... ORPHA:93267
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... OMIM:601357
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... OMIM:615731
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... OMIM:249670
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mitral stenosis, Cam... ORPHA:2008
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Omphalocele, Ventricular septal defect, Exaggerated cupid's b... OMIM:618316
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... OMIM:616589
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Emanuel Syndrome
Inguinal hernia, Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Denta... OMIM:609029
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog... ORPHA:254534
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Hydr... OMIM:617022
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... ORPHA:96170
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Clinodactyly, Hip dislocatio... OMIM:615583
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... OMIM:228520
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... OMIM:179613
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Pneumothorax, Bronchiectasis, Abnormal pulmonary ... OMIM:612387
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... ORPHA:1388
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect, Absent thumb OMIM:615272
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Missing ribs, Double outlet right ventricle, Cleft palate,... OMIM:220210
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydramnios, Coxa va... OMIM:608149
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... OMIM:600001
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... OMIM:231100
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... ORPHA:1335
Trisomy 1Q
Omphalocele, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, ... ORPHA:261344
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... OMIM:201000
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Broad hallux, Abnormality ... OMIM:618529
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbin... ORPHA:3304
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, P... ORPHA:1263
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Cataract, Ventricular septal defect, Epiphyseal stippling OMIM:614876
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... ORPHA:391646
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Posterior embryotoxon, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary arter... OMIM:617992
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic ilia, Hypo... OMIM:617895
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum ORPHA:1906
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb ORPHA:3434
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Deep philtr... ORPHA:261120
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Small hand, Mitra... ORPHA:2868
Facial Spasm
Anisocoria OMIM:134300
Chromosome 9P Deletion Syndrome
Long toe, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Ventricular septal defect, Sand... OMIM:158170
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Stillbirth, Aortic valve stenosis, Pu... OMIM:615415
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Abnormal upper lip morphology, Omphalocele, Polyhydramnios ORPHA:531
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... ORPHA:1937
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Patent f... OMIM:269860
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ... OMIM:619657
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Metaphyseal widening, Flexion contr... OMIM:263210
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... ORPHA:2729
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a... OMIM:612561
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... ORPHA:1354
Mosaic Trisomy 1
Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmonary ... ORPHA:1692
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Incr... OMIM:620183
Melnick-Needles Syndrome
Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Coxa valga, Abnormal rib morpho... ORPHA:2484
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Triploidy
Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Cl... ORPHA:3376
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma, Tetralogy of Fallot OMIM:187501
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Em... ORPHA:36412
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... OMIM:617516
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios OMIM:619967
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Congenital diaphragmatic hernia, Abnormal aortic arch... ORPHA:2059
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... ORPHA:3469
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... ORPHA:251076
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Intestinal Botulism
Mydriasis ORPHA:178481
Acalvaria
Omphalocele, Postaxial hand polydactyly, Cleft palate ORPHA:945
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... ORPHA:2143
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations OMIM:253300
C Syndrome
Omphalocele, Short metacarpal, Toe syndactyly, Ventricular septal defect, Accessory oral frenulum... OMIM:211750
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the ... ORPHA:371428
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... ORPHA:90308
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete... OMIM:264480
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, S... OMIM:145420
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San... ORPHA:477817
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... OMIM:616894
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Widely spaced teeth, Clinodac... OMIM:619717
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... ORPHA:1329
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma... ORPHA:1166
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... ORPHA:2712
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Downturned corners of mouth, High palate, L... ORPHA:1707
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... ORPHA:94066
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
3Mc Syndrome 1
Omphalocele, Ventricular septal defect, Dental crowding, Single interphalangeal crease of fifth f... OMIM:257920
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Thin vermilion border, Tetralogy of Fallot, Brachydactyly ORPHA:3303
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... OMIM:231530
Omphalocele
Omphalocele ORPHA:660
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Iatrogenic Botulism
Mydriasis ORPHA:254509
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ... ORPHA:2092
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Heart And Brain Malformation Syndrome
Polyhydramnios, Ventricular septal defect, Interrupted aortic arch OMIM:616920
Femoral-Facial Syndrome
Short fourth metatarsal, Humeroradial synostosis, Rib fusion, Pulmonic stenosis, Truncus arterios... OMIM:134780
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, Osteopathia striata, High palate, Clinodactyly of the 5th finger... OMIM:300373
Mucolipidosis Type Iii
Inguinal hernia, Abnormal heart valve morphology, Cleft palate, Abnormal aortic valve morphology,... ORPHA:577
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic ro... OMIM:616652
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... OMIM:600373
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morphology, Tetralogy ... ORPHA:1919
Wound Botulism
Mydriasis ORPHA:178475
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... ORPHA:2209
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia... OMIM:620365
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Hamartoma of t... OMIM:616300
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Inhalational Botulism
Mydriasis ORPHA:254504
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele OMIM:614450
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Aplastic clavicle, Hi... ORPHA:2538
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticu... OMIM:618278
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Prominent fingertip pads, Congenital hip dislocation, Toe ... OMIM:609625
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Vacterl/Vater Association
Omphalocele, Finger syndactyly, Polyhydramnios, Congenital diaphragmatic hernia, Preaxial hand po... ORPHA:887
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth philtrum, Brachy... OMIM:614526
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Mitral valve prolapse, Long philtrum, Joint contracture of the hand, Camptodactyly OMIM:211960
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Cl... OMIM:117650
Pseudodiastrophic Dysplasia
Omphalocele, Phalangeal dislocation ORPHA:85174
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Periportal fibrosis, Respiratory ... OMIM:201475
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti... ORPHA:90652
Constricting Bands, Congenital
Omphalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Gastroschisis, Ectopia ... OMIM:217100
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Meckel Syndrome 14
Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgitation, Single ventricle, O... OMIM:619879
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges, Clinodactyly of t... OMIM:314320
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Tetralogy of Fallot OMIM:615542
Megalocornea
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... OMIM:309300
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Trigonocephaly 1
Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum OMIM:190440
Down Syndrome
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... OMIM:190685
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Unilateral... ORPHA:63862
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... ORPHA:101028
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Ventricular septal defect, Short toe, Patent ductus arteriosus, O... ORPHA:1519
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Broad secon... ORPHA:3369
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Cleft l... ORPHA:2745
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... OMIM:600987
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Botulism
Mydriasis ORPHA:1267
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Polyhydramnios... OMIM:247200
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Leukocytosis, Myocardial eosinophilic infiltration, Anemia, T... OMIM:131400
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Omphalocele, Hypoplastic scapulae, Coxa valga, Flared m... OMIM:309350
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:601163
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Fryns Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Polyhydramnios, Prominent fingertip pads... OMIM:229850
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Anterio... OMIM:618624
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... OMIM:618454
Hypophosphatasia
Anemia, Emphysema, Respiratory insufficiency ORPHA:436
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth... OMIM:618974
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atr... OMIM:243150
Foodborne Botulism
Mydriasis ORPHA:228371
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Pulmonic stenosis, Aortic valve... ORPHA:3449
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Cleft palate... ORPHA:2021
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Woolly Hair Nevus
Brachydactyly, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... ORPHA:3405
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Wide mouth, Downturned corners of mout... OMIM:611816
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Prominent fingertip pads, Sandal gap, High, narrow palate, Patent ductu... OMIM:612863
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Burn-Mckeown Syndrome
Inguinal hernia, Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Th... OMIM:608572
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Hig... OMIM:616166
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... ORPHA:261190
Dislocation Of The Hip-Dysmorphism Syndrome
Inguinal hernia, Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Abnor... ORPHA:2412
Lambert Syndrome
Wide mouth, Branchial anomaly, Ventricular septal defect, Inguinal hernia ORPHA:1296
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Overlapping toe, Polyhydramnios,... ORPHA:254528
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... ORPHA:166016
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... OMIM:192430
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cl... ORPHA:3186
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Dental crowding, Arachnodactyly, Adducted thumb, Mitral valve prolapse, Atrophic... OMIM:615539
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Frank-Ter Haar Syndrome
Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Short phalanx of fi... OMIM:249420
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... OMIM:222448
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... ORPHA:228399
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Genu valgum, Tetralogy of Fallot, Anal atresia ORPHA:1381
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cleft upper lip, Cleft palate, Cervical ribs, High palate OMIM:609654
Cardiomyopathy, Dilated, 2H
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v... OMIM:620203
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, High, narrow palate, Narrow palate, Cleft palate, High... OMIM:615102
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H... OMIM:618494
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Coxa valga, Postaxial hand polydac... OMIM:301056
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Finger clinodactyly, ... ORPHA:508488
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Metaphyseal spurs, ... ORPHA:85167
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow... ORPHA:83473
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... ORPHA:261272
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, P... ORPHA:71212
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ... ORPHA:137834
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Ventricular sep... OMIM:615582
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... OMIM:301043
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Preaxial hand polydactyly, Cervical ribs, Prune belly, Anal atresia OMIM:601389
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arres... ORPHA:26791
Alg9-Cdg
Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow... ORPHA:79328
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Developmental cataract, Endocardial fibroelastosis ORPHA:2119
Carcinoid Syndrome
Elevated hepatic transaminase, Asthma, Hepatic necrosis, Bronchospasm, Rhinorrhea ORPHA:100093
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Supravalva... OMIM:618164
Mitral Valve Prolapse 1
High, narrow palate, High palate, Mitral valve prolapse OMIM:157700
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... ORPHA:244
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, High palate, Abnormal morphology of ulna, Mitral valve prolapse ORPHA:2233
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Widely spaced teeth, High palate, Atrial septal defect, Microdontia, Promi... OMIM:612474
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, Tracheoesoph... ORPHA:1834
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Meckel Syndrome, Type 2
Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft ... OMIM:603194
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Cleft palate, Or... ORPHA:2166
Char Syndrome
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly... ORPHA:46627
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Abnormal rib morpho... ORPHA:3035
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... ORPHA:139466
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth... OMIM:612938
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Slender finger OMIM:147800
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Alagille Syndrome
Keratoconus, Hypoplasia of the ulna, Ventricular septal defect, Corneal dystrophy, Abnormal pupil... ORPHA:52
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:1120
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
2Q24 Microdeletion Syndrome
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... ORPHA:1617
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Polyhydramnios, Congenital diaphragmatic hernia, High, narrow palate,... ORPHA:373
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
German Syndrome
Camptodactyly of finger, Lymphedema, Orofacial cleft, Abnormal cardiac septum morphology, Everted... ORPHA:2077
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu... ORPHA:435638
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Dental crowding, Mitral valve prolapse, High palate, Short philt... ORPHA:228410
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border, Narrow mouth... OMIM:615502
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Patent ductus arte... ORPHA:2970
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Overlapping toe, Deep philtrum, Patent ductus arteriosus, Double outle... ORPHA:163956
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... OMIM:602482
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the den... ORPHA:276422
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... OMIM:164280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin ... OMIM:617877
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao... ORPHA:1596
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... OMIM:231680
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... OMIM:618142
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Broad hallux, Velopharyngeal insufficiency, Submucous cleft har... OMIM:619314
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Cleft... OMIM:614815
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... OMIM:300166
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Umbilical hernia, Mic... ORPHA:2241
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, Pulmonary artery ... OMIM:280000
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Arachnodac... ORPHA:567
Nocardiosis
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology... ORPHA:31204
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Thick lower lip vermilion, ... OMIM:618950
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios,... OMIM:616897
3C Syndrome
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial septal defect, ... ORPHA:7
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Submucous cleft hard palate, Flexion contracture, Epiphyseal stip... OMIM:222765
Stickler Syndrome Type 1
Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... ORPHA:90653
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... OMIM:300963
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contracture, Abnormal aortic a... ORPHA:96334
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dias... ORPHA:329224
Lymphangioleiomyomatosis
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... ORPHA:538
Cardiospondylocarpofacial Syndrome
Brachydactyly, High, narrow palate, Mitral valve prolapse, Short palm, Failure of eruption of per... ORPHA:3238
Esophageal Atresia
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios... ORPHA:1199
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decre... OMIM:619632
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal int... OMIM:618223
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Netherton Syndrome
Asthma, Emphysema, Recurrent respiratory infections, Dehydration ORPHA:634
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Arachnodactyly, Cleft palate, Narrow mouth ORPHA:93946
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... OMIM:619343
Marshall-Smith Syndrome
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... OMIM:602535
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa... OMIM:300887
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad phil... ORPHA:398156
Galloway-Mowat Syndrome 7
Hallux valgus, Ventricular septal defect, Arachnodactyly, Edema, Cleft lip, Partial duplication o... OMIM:618348
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Cardioacrofacial Dysplasia 2
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... OMIM:619143
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Serotonin Syndrome
Mydriasis ORPHA:43116
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... OMIM:220500
Filippi Syndrome
Ventricular septal defect, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin ve... OMIM:272440
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Stillbirth, Single ventricle OMIM:308050
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Increased nuchal tra... OMIM:615668
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E... ORPHA:2345
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu... ORPHA:2326
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pierre-Robin sequence, Small hand... OMIM:619980
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Postaxi... OMIM:619142
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage... OMIM:314390
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... ORPHA:3378
Zechi-Ceide Syndrome
Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn... ORPHA:217017
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios OMIM:616867
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Atrial... ORPHA:921
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Ventricular septal defect OMIM:616816
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro... OMIM:169400
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ... OMIM:613177
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short tibia, Atriov... ORPHA:2751
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... OMIM:613658
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Dyspnea, Emphysema, Bronchiectasi... OMIM:181000
Distal Deletion 19P
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Short... ORPHA:96129
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Sandal gap, Genu valgum, High palate, Atrial septal defect, Umbilical hernia ORPHA:1035
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... OMIM:616331
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Elevated circulating aspartate aminotr... OMIM:256810
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:99811
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, 2-3 toe syndactyly, High palate, Short philtrum, Hernia, Clinodactyly ... ORPHA:3306
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Bartsocas-Papas Syndrome 1
Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, Patent foramen ovale, Infer... OMIM:263650
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Aplasia/Hypoplasia of the abdomin... ORPHA:1425
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Short 4th metacarpal, Mitral valve prolapse ORPHA:2183
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co... ORPHA:1488
Lymphangiectasia, Intestinal
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs OMIM:152800
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... OMIM:153400
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf... OMIM:614701
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Polydactyly, Hernia, Smooth philtrum OMIM:602501
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial... ORPHA:2475
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... OMIM:617926
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Short ... ORPHA:3163
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Meckel Syndrome, Type 1
Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus, Postaxial foot polydacty... OMIM:249000
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Postaxial... ORPHA:2473
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Myhre Syndrome
Short palm, Brachydactyly, Inguinal hernia, Femoral hernia, Submucous cleft hard palate, Abnormal... ORPHA:2588
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac... OMIM:121050
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... OMIM:174300
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Postaxial hand polydactyly, Wide... OMIM:136760
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Thick... OMIM:618027
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... OMIM:608670
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... OMIM:304120
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Lymphatic Malformation 13
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral reg... OMIM:620244
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... OMIM:620107
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Coats Disease
Leukocoria OMIM:300216
Trisomy 9P
Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly, Impacted tooth ORPHA:236
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... ORPHA:251071
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Polyhydramnios, Hypop... ORPHA:2347
Even-Plus Syndrome
Epiphyseal dysplasia, Dysplasia of the femoral head, High palate, Hypodontia, Atrial septal defec... OMIM:616854
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Rocker bottom ... OMIM:612582
Hydrolethalus Syndrome 1
Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Preaxial hand polydacty... OMIM:236680
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... OMIM:617450
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... ORPHA:88630
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Telangiectasia, Atrial... OMIM:606003
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... ORPHA:2876
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Umbi... ORPHA:1770
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Cataract, Hypoplastic left heart, Abnormal rib morphology ORPHA:2772
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma, Cleft palate ORPHA:3374
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect,... OMIM:617660
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Loeys-Dietz Syndrome 4
Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagu... OMIM:614816
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Short thumb, Patent duc... OMIM:612562
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites ORPHA:1667
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... ORPHA:96167
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Pituitary Apoplexy
Mydriasis ORPHA:95613
Charge Syndrome
Polyhydramnios, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ... OMIM:214800
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:3201
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Ventral hernia, Prominent superficial veins, Inguinal hernia, Carotid artery steno... OMIM:618000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... OMIM:235510
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect,... ORPHA:363444
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... OMIM:618067
Woods Syndrome
3-4 finger cutaneous syndactyly, Thin vermilion border, Ventricular septal defect OMIM:615236
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Holoprosencephaly
Omphalocele, Brachydactyly, Median cleft lip, Ventricular septal defect, Abnormal pulmonary valve... ORPHA:2162
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu... OMIM:620113
Roifman Syndrome
Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe... OMIM:616651
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Monkey wrench femoral neck, Patent ductus arteriosus, Increased nuchal... OMIM:618870
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation OMIM:619083
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... OMIM:617159
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... ORPHA:2256
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Boudin-Mortier Syndrome
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... OMIM:619543
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Congenital Contractural Arachnodactyly
Arachnodactyly, Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesop... ORPHA:115
Glanzmann Thrombasthenia
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Impaired thrombin-in... ORPHA:849
Arachnoid Cyst
Mydriasis ORPHA:2356
Digeorge Syndrome
Inguinal hernia, Ventricular septal defect, Femoral hernia, High, narrow palate, Patent ductus ar... OMIM:188400
Acute Liver Failure
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocel... ORPHA:90062
Osteopetrosis, Autosomal Recessive 5
Mydriasis OMIM:259720
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Persistence of primary teeth, Ectopia pupillae, Astigmatism, ... OMIM:618727
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Lymphedema,... OMIM:235255
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Arthrogryposis multiple... OMIM:607598
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great a... OMIM:616789
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Polyhydramnios... OMIM:300990
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Ab... ORPHA:1926
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect OMIM:620184
Dental Anomalies And Short Stature
Mitral valve prolapse, Oligodontia, Widely spaced teeth, Microdontia, Amelogenesis imperfecta OMIM:601216
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Cleft palate, Coarctation of aorta OMIM:620210
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Clinodactyly, Abnormal heart morphology, Downturned corner... ORPHA:369891
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Wide mouth, High palate, Clinodactyly of the 5th f... OMIM:613398
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Analbuminemia
Patent ductus arteriosus, Oligohydramnios, Hypotension, Edema OMIM:616000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Multiple Pterygium Syndrome, X-Linked
Edema, Cleft upper lip, Polyhydramnios, Flexion contracture, Cleft palate, Thin ribs, Hypoplastic... OMIM:312150
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Mass Syndrome
Ascending aortic dissection, Arachnodactyly, Aortic aneurysm, Mitral valve prolapse OMIM:604308
Fabry Disease
Abnormal endocardium morphology, Lymphedema, Dyspnea, Emphysema, Chronic pulmonary obstruction, R... ORPHA:324
Snijders Blok-Campeau Syndrome
Inguinal hernia, Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulm... OMIM:618205
Lujan-Fryns Syndrome
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, High pala... ORPHA:776
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyly, Clinodactyl... OMIM:619123
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... ORPHA:1923
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Absen... OMIM:600460
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Ventricular septal defect, Sandal ... OMIM:270450
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Absent radius, Preaxial hand polydactyly,... ORPHA:233
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Lymphatic Malformation 6
Genital edema, Prune belly, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydra... OMIM:616843
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Cleft palate, Atrial septal defect, Clinodactyly, Paten... OMIM:614261
Developmental And Epileptic Encephalopathy 89
Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Long philtrum, Neonatal... OMIM:619124
Classical-Like Ehlers-Danlos Syndrome Type 2
Widened atrophic scar, Equinus calcaneus, Prominent veins on trunk, Shoulder dislocation, High pa... ORPHA:536532
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Delayed eruption of permanent teeth, Narrow mouth, Atrial septal def... OMIM:619356
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... OMIM:619762
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,... OMIM:613680
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation OMIM:615476
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusion, Carious teeth, Multiple... OMIM:620070
Tarp Syndrome
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdura... OMIM:311900
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short... ORPHA:436003
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle... ORPHA:2780
Caudal Duplication
Omphalocele, Intestinal duplication ORPHA:1756
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... OMIM:244300
Alexander Disease
Microcoria OMIM:203450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic ... ORPHA:457279
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Toe syndactyly, Sclerocornea, Sandal gap, Camptodactyly of t... ORPHA:251038
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Thanatophoric Dysplasia Type 2
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios ORPHA:93274
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Finger joint hypermobility, Bifid uvula, Chondr... OMIM:601492
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer... ORPHA:436252
Achondrogenesis, Type Ii
Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hydrops fetalis, Cleft ... OMIM:200610
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Duplication of thumb phalanx, Tarsal synostosis, Shor... ORPHA:2756
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a... ORPHA:2184
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... OMIM:616564
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Polyhydramnios, Coxa valga, Coat hang... ORPHA:254519
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Cataract, Broad long bones, Fifth finger distal phalanx clinodactyly, ... OMIM:257850
Sarcoidosis
Abnormal lung morphology, Increased T cell count, Leukopenia, Cough, Emphysema, Hepatomegaly, Hem... ORPHA:797
Chondrodysplasia, Blomstrand Type
Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta OMIM:215045
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Brachydactyly OMIM:616459
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Chromosome 18Q Deletion Syndrome
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, B... OMIM:601808
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Aortic root aneurysm, Short philtrum, Camptodactyly, A... OMIM:301039
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Perlman Syndrome
Ascites, Polyhydramnios, Interrupted aortic arch, Edema OMIM:267000
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Prolonged bleeding time, Lymphedema, Abnormal neu... ORPHA:3226
Thanatophoric Dysplasia
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios ORPHA:2655
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Abnormal intrahepatic bile duct m... ORPHA:363618
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sub... OMIM:114300
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Inguinal hernia, Calcaneovalgus deformity, Mitral valve prolapse OMIM:225320
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Oligohydramnios OMIM:219100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ... OMIM:615630
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... OMIM:614857
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... ORPHA:1507
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Inguinal hernia, Abnormal heart valve morphology, Dental crowding, Sandal gap, Rec... ORPHA:230851
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:2962
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Dental crowding, Intestinal malrotation, Arachnodactyly, Carious teeth... OMIM:617602
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Knee flexion contracture, Increased density of long ... OMIM:305620
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn... ORPHA:99104
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi... OMIM:314400
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Intellectual Developmental Disorder, Autosomal Recessive 71
Prune belly, Ventricular septal defect, Increased overbite OMIM:618504
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... OMIM:605275
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Un... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Sandal gap, Tapered finger,... OMIM:617061
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tap... OMIM:617452
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Proximal placement of ... OMIM:618619
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Sclerocornea, Esophageal atresia, Patent ductus arte... ORPHA:77298
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Inguinal hernia, Right atrial enlargement, Esophageal varix, Pulmonic ... OMIM:616028
Cardiofaciocutaneous Syndrome 2
High palate, Mitral valve prolapse OMIM:615278
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... ORPHA:2519
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Short long b... OMIM:619184
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, At... OMIM:611134
Cutis Marmorata Telangiectatica Congenita
Short lower limbs, Leukocoria, Bowing of the legs OMIM:219250
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... ORPHA:2549
Charge Syndrome
Aortic arch aneurysm, Polyhydramnios, Patent ductus arteriosus, Abnormal cardiac septum morpholog... ORPHA:138
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial ... ORPHA:292
Intellectual Developmental Disorder, Autosomal Dominant 47
Wide mouth, Increased nuchal translucency, Ventricular septal defect, Widely-spaced incisors OMIM:617635
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... OMIM:616866
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ... ORPHA:3071
Catel-Manzke Syndrome
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacarpal, Overrid... OMIM:616145
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring OMIM:603387
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... ORPHA:199302
Oculopalatocerebral Syndrome
Leukocoria, Cleft palate OMIM:257910
Chime Syndrome
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... ORPHA:3474
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Narrow mouth OMIM:245552
Houge-Janssens Syndrome 3
Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... OMIM:618354
Classic Multiminicore Myopathy
Multiple joint contractures, Mitral valve prolapse, Hip dysplasia, High palate, Right ventricular... ORPHA:324604
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema OMIM:613804
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se... ORPHA:505237
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... OMIM:611812
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental c... OMIM:300967
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Cong... OMIM:612530
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Cholestasis, Mitr... OMIM:620233
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... OMIM:245600
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Patent ductus arteri... ORPHA:457193
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Situs inversus tot... ORPHA:1908
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Atrial se... OMIM:267010
Stickler Syndrome, Type I
Arachnodactyly, Irregular femoral epiphysis, Pierre-Robin sequence, Submucous cleft hard palate, ... OMIM:108300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Pulmonary artery stenosis, Everted lower l... ORPHA:75389
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
2Q31.1 Microdeletion Syndrome
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... ORPHA:251014
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Bifid sternum, Anal atresia ORPHA:63260
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal defect, Den... OMIM:309520
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Tet... ORPHA:2328
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal rib morphology, Pu... ORPHA:991
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... OMIM:614294
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Neonatal Marfan Syndrome
Neonatal respiratory distress, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Hypo... ORPHA:284979
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1842
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Weill-Marchesani Syndrome 1
Cataract, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Microspherophakia,... OMIM:277600
Myoectodermal Gonadal Dysgenesis Syndrome
Smooth philtrum, Short palm, Omphalocele, Diastasis recti, Bifid distal phalanx of the thumb, Pyl... OMIM:618419
19P13.3 Microduplication Syndrome
Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Hip dysplasia, Thick verm... ORPHA:447980
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, T... OMIM:615879
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Protruding tongue, Abnormal thumb morphology, Abnormal atrioventricular valve morph... ORPHA:324410
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... OMIM:609008
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Noonan Syndrome 13
Overlapping toe, Tapered finger, Metatarsus adductus, Lymphedema, Clinodactyly, Mitral valve prol... OMIM:619087
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proxi... OMIM:610759
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Left superior ve... OMIM:611961
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... OMIM:271640
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Internally rotated shoulders, Fetal asc... OMIM:619503
Fg Syndrome Type 1
Dental crowding, Fused teeth, High palate, Atrial septal defect, Finger syndactyly, Malrotation o... ORPHA:93932
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Atelectasis, Dyspnea, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Thin upper lip vermilion, Inguinal hernia, Contracture of the proximal interphalangeal joint of t... OMIM:300998
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Intestinal malrotation,... ORPHA:99776
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Ope... OMIM:617751
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Taper... ORPHA:96201
Oculo-Palato-Cerebral Syndrome
Cataract, High, narrow palate, Small hand, Leukocoria, Cleft palate, Short foot ORPHA:2714
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Cocaine Intoxication
Mydriasis ORPHA:90068
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, 2-3 toe syndactyly, Cleft... OMIM:616449
Proteus-Like Syndrome
Cataract, Venous insufficiency, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
Weill-Marchesani Syndrome 2
Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Patent ductus art... OMIM:608328
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth OMIM:618798
Doors Syndrome
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downturned corners of mouth, ... ORPHA:79500
C Syndrome
Omphalocele, Toe syndactyly, Accessory oral frenulum, Polyhydramnios, Congenital diaphragmatic he... ORPHA:1308
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... OMIM:263520
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Patent ductu... OMIM:106260
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Pat... ORPHA:293939
Axenfeld-Rieger Syndrome, Type 1
Anal stenosis, Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, ... OMIM:180500
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... OMIM:609192
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... ORPHA:36238
Iniencephaly
Omphalocele, Rocker bottom foot, Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft... ORPHA:63259
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Myocarditis, Splenomegal... ORPHA:829
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,... OMIM:251750
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... OMIM:192445
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Esopha... OMIM:614576
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ribs, Unilatera... OMIM:619122
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl... OMIM:615503
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Opitz Gbbb Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Rectoureth... OMIM:300000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... OMIM:617506
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Cough... ORPHA:188
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Exagge... ORPHA:464738
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Polyhydramnios ORPHA:500533
Distal Duplication 5Q
Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Absent thumb, Car... ORPHA:96097
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, A... ORPHA:124
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Inguinal hernia, Cigarette-paper scars, Irregularly spac... OMIM:130000
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Inguinal hernia, Ventricular septal defect, Camptodactyly o... ORPHA:354
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus arteriosus, Cleft palate, Narrow ... ORPHA:1790
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... OMIM:154400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Polyhydramnios, Down... OMIM:617360
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Hardikar Syndrome
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent duct... OMIM:301068
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Cleft pal... ORPHA:254346
Fetal Alcohol Syndrome
Thin upper lip vermilion, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, A... ORPHA:1915
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent... OMIM:613309
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Polyhydramni... OMIM:601803
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Cleft palate, Ab... ORPHA:453499
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Coxa vara, Mitral valve prolapse, Short femoral neck, Camp... ORPHA:2848
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:52055
Scorpion Envenomation
Miosis, Mydriasis ORPHA:466677
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coarctation of aorta, Dow... ORPHA:96147
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... ORPHA:261236
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Esophageal atresia, Deep philtrum, Preaxi... OMIM:610536
Intellectual Developmental Disorder, Autosomal Recessive 65
Inguinal hernia, Secundum atrial septal defect, Contracture of the proximal interphalangeal joint... OMIM:618109
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Patent ductus... OMIM:130720
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Mitral valve prolapse, High pal... OMIM:104350
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Robinow Syndrome
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Syndactyly, Pers... ORPHA:97360
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Abnormal tibia morphology, Hip dislocation, Absent foot, Abn... ORPHA:93929
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema ORPHA:357074
Short Stature-Micrognathia Syndrome
Cataract, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 to... OMIM:617164
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Ventricular septal defect, Tarsal synostosis, Elbow contracture... OMIM:178110
Central Core Disease
Multiple joint contractures, Congenital hip dislocation, Mitral valve prolapse ORPHA:597
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Bohring-Opitz Syndrome
Bilateral cleft palate, Syndactyly, Ventricular septal defect, Intestinal malrotation, Overlappin... OMIM:605039
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Ogden Syndrome
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad hallux, High, narr... ORPHA:276432
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Mitral... ORPHA:555877
Hamamy Syndrome
Long toe, Thin upper lip vermilion, Syndactyly, Inguinal hernia, Down-sloping shoulders, Tapered ... OMIM:611174
Hydrolethalus
Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, Gingival c... ORPHA:2189
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial septal defect, Art... OMIM:208085
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Prominent fingertip pads, Arachnodactyly, Mitral valve prolapse, Wide mouth, Thick vermilion bord... OMIM:300986
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Limited interphalangeal movement, Ab... OMIM:147750
Teebi-Shaltout Syndrome
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala... OMIM:272950
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Vasculitis, Cheilit... ORPHA:2331
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... ORPHA:1302
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Brachydactyly, Pulmonary lymphangiectasia, Mitral valve prolapse OMIM:247410
Giant Cell Arteritis
Pericarditis, Vasculitis, Aortic dissection, Glossitis, Abdominal aortic aneurysm, Double outlet ... ORPHA:397
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Thin vermilion border, Short ph... ORPHA:3255
Mosaic Trisomy 16
Syndactyly, Single coronary artery origin, Ventricular septal defect, Short thumb, Clinodactyly, ... ORPHA:1708
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... ORPHA:1782
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Congenital ... OMIM:618846
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... OMIM:620073
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,... ORPHA:90354
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Polyhydramnios, Patent ductus arter... OMIM:614557
Meester-Loeys Syndrome
Aortic dissection, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular ... OMIM:300989
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Arteria lusoria, 2-3 toe syndactyly, Anteriorly placed anus, Ani... OMIM:618653
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Polyhydramnios, Supernumerary t... OMIM:617088
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgrowth, Dehydrati... ORPHA:96191
Cleft Soft Palate
Cleft soft palate OMIM:119570
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, High ... OMIM:609942
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Sub... ORPHA:3047
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Pancreatic ... ORPHA:1655
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
W Syndrome
Hypoplasia of the ulna, Broad uvula, Radial bowing, Metatarsus adductus, Submucous cleft hard pal... ORPHA:2804
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Koolen-De Vries Syndrome
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Pylo... OMIM:610443
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned... ORPHA:1780
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Arachnodactyly, Dental crowding, Mitral valve prolapse, High palate, Stroke OMIM:236200
Cohen Syndrome
Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abno... ORPHA:193
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Postaxial hand polydactyly, Hip dislocation,... OMIM:308205
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th finger, Micr... ORPHA:251028
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilate... OMIM:610828
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Ena... OMIM:618874
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate OMIM:606851
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology ORPHA:352490
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Cryptorchidism, Emphysema, Recurrent respiratory infections OMIM:616835
Birk-Barel Syndrome
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, Short philtrum, Sub... OMIM:612292
Geleophysic Dysplasia 2
Short palm, Thin upper lip vermilion, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epip... OMIM:614185
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... OMIM:618106
Distal Triplication 15Q
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology ORPHA:314588
Autosomal Recessive Cutis Laxa Type 1
Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Respiratory insufficienc... ORPHA:90349
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Aplastic clavicle, Postaxial polydactyly, Polyhydra... OMIM:616546
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Postaxial hand polydactyly, Hypoplasia of the small intestine, As... OMIM:200995
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Dysp... ORPHA:67
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, 3-4 finger syndactyly OMIM:615877
Thanatophoric Dysplasia Type 1
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios ORPHA:1860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Abnorm... ORPHA:261197
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Distal Deletion 3P
Inguinal hernia, Postaxial hand polydactyly, Cleft palate, Downturned corners of mouth, Thin verm... ORPHA:1620
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly OMIM:219730
King-Denborough Syndrome
High palate, Deep philtrum, Ventricular septal defect OMIM:619542
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Horizontal ribs, Complete atrioventric... OMIM:617925
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Mitral valve prolapse OMIM:225310
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... ORPHA:3138
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Pulmonary artery hypo... OMIM:245150
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Cohen Syndrome
Short metacarpal, Tapered finger, High, narrow palate, Short metatarsal, Mitral valve prolapse, G... OMIM:216550
Camurati-Engelmann Disease, Type 2
Knee flexion contracture, Hip contracture, Mitral valve prolapse OMIM:606631
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Dental malocclusion, Wide mouth, Thick vermilion borde... OMIM:610733
Cerebellofaciodental Syndrome
Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... OMIM:259600
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Downturned cor... OMIM:122470
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Short sternum, Bifid tong... OMIM:258850
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip... OMIM:616914
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Mitral valve prolapse, Atr... OMIM:606408
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Patent ductus arteriosus, Hip dislocation, High palate, Atrial septal defect, Joi... OMIM:618005
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Noonan Syndrome 5
Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:611553
Holoprosencephaly 1
Single ventricle OMIM:236100
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Dental malocclusion, ... OMIM:182212
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... OMIM:164220
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Cardiomegaly, Congenital diaphragm... ORPHA:116
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Polyhydramnios ORPHA:96190
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology, Split hand, Hammertoe ORPHA:90658
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... ORPHA:141127
Megalencephaly
Atrial septal defect ORPHA:2477
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... ORPHA:1054
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Pat... OMIM:114290
Meier-Gorlin Syndrome 1
Respiratory distress, Cryptorchidism, Emphysema OMIM:224690
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Polyhydramnios OMIM:611087
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Brittle Cornea Syndrome 1
Atypical scarring of skin, Congenital hip dislocation, Dentinogenesis imperfecta, Mitral valve pr... OMIM:229200
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial ... ORPHA:268249
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Metatarsu... OMIM:611962
Pallister-Hall Syndrome
Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Cleft upper lip, ... OMIM:146510
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Wide mo... ORPHA:217346
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... OMIM:614749
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Neu-Laxova Syndrome 1
Polyhydramnios, Swollen lip, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Fing... OMIM:256520
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Long metacarp... OMIM:117550
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Astigmatism, Chorioretinal c... ORPHA:494344
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, C... ORPHA:268261
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Cleft palate, Buphthalmos, Macroglossia, Persistent pupillary membrane OMIM:613150
Myhre Syndrome
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Pericardial effusion, C... OMIM:139210
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Patent ductus arteriosus, 2-3 toe syndactyly, Knee flexion contracture, Irregu... OMIM:618162
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... OMIM:613458
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... OMIM:620025
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Leukocoria, Arterial stenosis, Arter... ORPHA:1556
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Rieger anomaly, Ventricular septal defect, Pseudoepiphyses of the... OMIM:194190
Desmosterolosis
Intestinal malrotation, Metatarsus adductus, Patent ductus arteriosus, Submucous cleft hard palat... ORPHA:35107
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... OMIM:602782
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Dahlberg-Borer-Newcomer Syndrome
Lymphedema, Brachydactyly, Short distal phalanx of finger, Mitral valve prolapse ORPHA:1563
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... ORPHA:3472
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Adducted thumb, Short philtrum, Smooth philtrum, Oligohydramnios ORPHA:293725
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Tapered finger, High, narro... OMIM:619312
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Inguinal hernia, Widened atrophic scar, High, narrow palate, Hip dislocation, Elbow flexion contr... ORPHA:1900
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Seckel Syndrome 9
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypo... OMIM:616777
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Polyhydramnios, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft p... OMIM:614080
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Joubert Syndrome 14
Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Intra... OMIM:614424
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul... OMIM:620024
Marfan Syndrome
Pulmonary artery dilatation, Bicuspid aortic valve, Pneumothorax, Mitral annular calcification, M... OMIM:154700
Exstrophy-Epispadias Complex
Omphalocele, Anal stenosis, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnorm... ORPHA:322
Fragile X Syndrome
Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse OMIM:300624
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... ORPHA:2438
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormality of the fascia, Abno... ORPHA:85438
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... ORPHA:2710
Noonan Syndrome 14
Polyhydramnios, High, narrow palate, Clinodactyly, Mitral valve prolapse, Wide mouth, Thick vermi... OMIM:619745
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Atrial... OMIM:312870
Adams-Oliver Syndrome 1
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte... OMIM:100300
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Abnormality of the dentition, Open bite,... OMIM:115150
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Cap Myopathy
Aortic root aneurysm, High palate, Mitral valve prolapse ORPHA:171881
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Short ... OMIM:300244
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Patent ductus arteriosus, Ventricular septal defect, Bifid uvula OMIM:300472
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Tented upper lip vermilion, Patent... OMIM:614961
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Overlapping toe, Deep philt... OMIM:613884
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Dental crowding, High, narrow palate, High palate, Um... ORPHA:2789
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Wide mouth, Hip d... ORPHA:261250
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... ORPHA:90650
Zttk Syndrome
Ventricular septal defect, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef... OMIM:617140
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Tapered finger, Dental malocc... ORPHA:444072
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolaps... OMIM:617107
Turnpenny-Fry Syndrome
Dental crowding, Polyhydramnios, Prominent interphalangeal joints, Downturned corners of mouth, H... OMIM:618371
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Mitral valve prolapse, High palate, Supernumerary ribs, Atrial septal d... ORPHA:251066
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Polyhydramnios, Patent ductus arteriosus... OMIM:275210
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal parotid gland mo... OMIM:154500
Duane-Radial Ray Syndrome
Syndactyly, Anal stenosis, Cataract, Aganglionic megacolon, Ventricular septal defect, Hypoplasia... OMIM:607323
Spondyloocular Syndrome
Long toe, Duodenal ulcer, Arachnodactyly, Femur fracture, Abnormality of the dentition, Overlappi... OMIM:605822
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... OMIM:606232
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Ventricular septal defect, Corneal opacity, Malabsor... ORPHA:912
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Macrodontia, Proximal placement of thumb, Protruding tongue, Diastema,... OMIM:212066
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Holoprosencephaly 2
Single ventricle OMIM:157170
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Geleophysic Dysplasia 1
Short palm, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital fe... OMIM:231050
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Inguinal hernia, Ventricular septal defect, Metaphyseal chondrod... ORPHA:166035
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Emphysema, Mitral valve prolapse, Pulmonary... ORPHA:558
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces OMIM:617190
Limb Body Wall Complex
Ventral hernia, Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving bones of th... ORPHA:2369
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Precocious atherosclerosis, Mitral valve prolapse ORPHA:230839
Apert Syndrome
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ... OMIM:101200
Spondylo-Ocular Syndrome
Thin vermilion border, Ventricular septal defect, Long philtrum ORPHA:85194
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Abnormal morphology of ulna, Lymphedema, Submucous cleft hard pa... ORPHA:1340
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Ventricular septal defect, Bicuspid aortic... ORPHA:261494
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defec... ORPHA:818
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti, Cardiomegaly, Macroglossia, Cardiomyopathy OMIM:130650
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Situs inversus ... ORPHA:2461
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Pierre-Robin sequence, Alveolar rid... ORPHA:2886
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Ventricular septal defect, Abnormal ossification involving the fe... ORPHA:79345
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Cataract, Cardiac myxoma, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... OMIM:181270
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Omphalocele, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification, ... ORPHA:93271
Tolchin-Le Caignec Syndrome
Arachnodactyly, Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, N... OMIM:618971
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:261279
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... OMIM:600268
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Patent ductus arteriosus, Ab... ORPHA:79076
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Micro... OMIM:143095
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, ... OMIM:613457
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Chops Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Anomalous pulmonary ven... OMIM:616368
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Dental crowding, Overlapping toe, Polyhydramnios, Short foot, Patent d... OMIM:618268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... OMIM:301044
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c... ORPHA:178303
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Absent thumb, Esophageal atresia, Patent ductus arteriosus, Tracheoeso... OMIM:300514
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Oligohydramnios OMIM:614437
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Palpebral edema ORPHA:397709
Toriello-Carey Syndrome
Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p... ORPHA:3338
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Neon... OMIM:208540
Hajdu-Cheney Syndrome
Downturned corners of mouth, Periodontitis, Hernia, Partial absence of toe, Open bite, Short toe,... ORPHA:955
Ablepharon Macrostomia Syndrome
Omphalocele, Toe syndactyly, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdon... ORPHA:920
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Conotruncal defect, Macroglossia, E... OMIM:610253
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Bronchiectasis, Bronchiolitis, Emphysema, Peripheral pulmon... ORPHA:90348
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... OMIM:617063
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Diastema, Tapered finger, Clinodactyly, Thick lower... OMIM:301040
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Clinodactyly of the 5t... OMIM:607872
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Osteogenesis Imperfecta, Type I
Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hypermobility, Dentinogenesis ... OMIM:166200
Mowat-Wilson Syndrome
Delayed eruption of teeth, Cataract, Ventricular septal defect, Aganglionic megacolon, Pulmonary ... OMIM:235730
Oculocerebrorenal Syndrome Of Lowe
Delayed eruption of teeth, Cataract, Corneal opacity, Chorioretinal dysplasia, Malabsorption, Abn... ORPHA:534
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios ORPHA:363528
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Omphalocele OMIM:248450
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, Missing ribs,... ORPHA:2462
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Slen... ORPHA:536467
Cutis Laxa, Autosomal Recessive, Type Iic
Reduced subcutaneous adipose tissue, Prominent superficial veins, Dental crowding, Overlapping to... OMIM:617402
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Fraser Syndrome
Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, ... ORPHA:2052
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... OMIM:609053
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Hand oligodactyly, Cataract ORPHA:45358
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c... ORPHA:2658
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Abnormal cerebral vascular morphology, Arterial stenosis, Mitral... ORPHA:758
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Hip dysplasia, Ventricular septal defect, Right ventricular h... OMIM:613404
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect OMIM:616901
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Aneurysm-Osteoarthritis Syndrome
High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ... ORPHA:284984
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Tented upper lip vermilion, Ventricular septal defect, Diastasis rec... ORPHA:488632
Acro-Renal-Ocular Syndrome
Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, ... ORPHA:959
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... ORPHA:2637
Hajdu-Cheney Syndrome
Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Den... OMIM:102500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ... ORPHA:261337
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Patent ductus arteriosus after birth at term, Abnor... ORPHA:500150
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... OMIM:301030
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atrial septal def... OMIM:613610
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... ORPHA:69085
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Edema OMIM:607143
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Patent ductus art... ORPHA:1465
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... OMIM:309801
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Cleft lip, Clinodactyly, Dysplastic tricuspid ... ORPHA:1724
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Intestinal malro... OMIM:244450
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thin ribs, Short sternum, Sh... OMIM:620076
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Mitral valve prolapse, White oral mucosal macule, Stroke, Restrictiv... OMIM:264800
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Sandal gap, Carious te... OMIM:619229
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Prominent fingertip pads, Reduced subcutaneous adipose tissue... OMIM:619950
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnor... ORPHA:500095
Rubinstein-Taybi Syndrome 1
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Aortic isthmus hypopla... OMIM:180849
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short uppe... OMIM:200110
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta, Clinodactyly of the... OMIM:614114
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, L... OMIM:300855
Cerebrocostomandibular Syndrome
Ventricular septal defect, Posterior rib gap, Cleft palate, Glossoptosis, Clinodactyly of the 5th... ORPHA:1393
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Tongue atrophy, Hammertoe, Hip dysplasia ORPHA:99949
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Cleft hard palate, Abnormal pupil morphology, Calcaneovalgus deformity, Mi... ORPHA:261552
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa... OMIM:613001
Oeis Complex
11 pairs of ribs, Omphalocele, Congenital hip dislocation, Intestinal malrotation, Anteriorly pla... OMIM:258040
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... ORPHA:2753
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, ... ORPHA:1662
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Cleft upper lip, Accessory carpal ... OMIM:150250
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios OMIM:603467
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... OMIM:614921
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Thin upper lip vermilion, Inguinal hernia, Toe syndactyly, Ventricular septal defect, Polyhydramn... ORPHA:459070
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Native American Myopathy
Cleft palate, Downturned corners of mouth, Congenital contracture, High palate, Camptodactyly, Su... ORPHA:168572
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals, Short m... ORPHA:508533
Jacobsen Syndrome
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Short toe, Aortic ... ORPHA:2308
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Congestive heart failure, Hypertrophic cardiomyopathy, Patent ductus arteri... OMIM:617303
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... OMIM:619680
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale OMIM:251290
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Metaphyseal ch... OMIM:250410
Meier-Gorlin Syndrome 5
Irregular femoral epiphysis, Submucous cleft hard palate, Patellar aplasia, Hypoplasia of the cap... OMIM:613805
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Dental crowding, Abnormality of t... ORPHA:769
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm, Submucous cleft hard palate, Flexion contracture OMIM:618891
Revesz Syndrome
Leukocoria, Megalocornea, Oral leukoplakia OMIM:268130
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly... OMIM:136140
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, High, narrow palate, Clinodactyly, Patent ductus arteriosu... OMIM:163950
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of the dentition, Carious ... ORPHA:1299
Diamond-Blackfan Anemia 1
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Absent thumb, S... OMIM:105650
7Q31 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus after birth at term ORPHA:251061
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... OMIM:157800
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Patent ductus arteriosus, Cleft soft palate ORPHA:2282
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:84064
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... ORPHA:100050
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, High, narrow... ORPHA:466791
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Scarring, Hiatus hernia, Diasta... OMIM:601776
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Edema, Cardiomegaly, Atrial septal defect, Left ventricular hype... ORPHA:79330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Abnorma... ORPHA:505248
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect OMIM:615673
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Carpenter Syndrome 2
High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ... OMIM:614976
Trichohepatoenteric Syndrome 1
Villous atrophy, Ventricular septal defect, Polyhydramnios, Avascular necrosis of the capital fem... OMIM:222470
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Omphalocele Syndrome, Shprintzen-Goldberg Type
Downturned corners of mouth, Thin upper lip vermilion, Omphalocele, Anal atresia ORPHA:3164
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Ventricular septal defect, Con... ORPHA:96121
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ... OMIM:609460
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Knobloch Syndrome 1
Band keratopathy, Pyloric stenosis, Patent ductus arteriosus, Chorioretinal atrophy, Developmenta... OMIM:267750
Orofaciodigital Syndrome Xiv
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumera... OMIM:615948
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the a... ORPHA:500
Trichinellosis
Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjuncti... ORPHA:863
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Wrinkly Skin Syndrome
Cryptorchidism, Emphysema, Atrial septal dilatation, Recurrent sinopulmonary infections ORPHA:2834
Phace Syndrome
Cataract, Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Tapere... OMIM:303600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Femoral bowing, Knee ... OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Jejunal atresia, Ileal atresia, Long philtrum OMIM:618820
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial polydactyly, Radial b... ORPHA:672
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Narrow philtrum, P... OMIM:619268
Omodysplasia 1
Short humerus, Ventricular septal defect, Increased fibular diameter, Pulmonary artery stenosis, ... OMIM:258315
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Ventricular septal defect, Polyhydramnios, High palate, Pulmonic stenosis, Atria... OMIM:607721
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Broad distal phalanx of the toes, Deep philtrum, Submu... OMIM:619194
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis OMIM:202650
Alagille Syndrome 1
Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Ventricular septal defect, Band keratopa... OMIM:118450
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, High, narrow palate, Submucous cleft hard palate, Abn... ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Flexion contracture... OMIM:619306
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Pulmonary arteriovenous... OMIM:175050
Osteogenesis Imperfecta
Abnormality of dental color, Abnormal tibia morphology, Flexion contracture, Abnormal femur morph... ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition of the great arte... OMIM:253800
Classical Ehlers-Danlos Syndrome
Incisional hernia, Rectal prolapse, Shoulder dislocation, Dislocated radial head, Hiatus hernia, ... ORPHA:287
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of tongue, Deviation ... ORPHA:434179
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
Renpenning Syndrome 1
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Cleft p... OMIM:309500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Broad hallux, Supernumerary tooth, ... ORPHA:353281
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuo... OMIM:175780
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Ventricular septal defect, Rocker bottom foot, Protruding tongue, Brushfield spots, Hig... OMIM:214100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy OMIM:619383
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Small cell lung carcinoma, D... ORPHA:821
Alazami Syndrome
Atrial septal defect ORPHA:319671
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Patent... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Patent... ORPHA:353277
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Xerostomia ORPHA:1051
Arboleda-Tham Syndrome
Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,... OMIM:616268
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... ORPHA:2250
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Wide mouth, Duodenal... OMIM:617798
White-Sutton Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Vater/Vacterl Association
Syndactyly, Ventricular septal defect, Absent radius, Esophageal atresia, Short thumb, Hypoplasia... OMIM:192350
Microphthalmia, Syndromic 3
Cataract, Ventricular septal defect, Sclerocornea, Missing ribs, Esophageal atresia, Patent ductu... OMIM:206900
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Increased nuchal translucency, Aortic root aneurysm, Atrial septal defe... ORPHA:280633
Von Willebrand Disease, Type 1
Aortic valve stenosis, Gastrointestinal angiodysplasia, Mitral valve prolapse OMIM:193400
Superficial Siderosis
Anisocoria, Abnormal vertebral artery morphology, Arteriovenous malformation, Subarachnoid hemorr... ORPHA:247245
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Mowat-Wilson Syndrome
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Overlapping toe, Hypoplastic philtrum, Hiatus ... OMIM:616682
Nephronophthisis 11
Anisocoria OMIM:613550
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal de... ORPHA:2273
Neu-Laxova Syndrome
Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Flexion contracture, Cl... ORPHA:2671
Witteveen-Kolk Syndrome
Branchial fistula, Cataract, Toe syndactyly, Overlapping toe, Proximal placement of thumb, Arachn... OMIM:613406
Shprintzen Omphalocele Syndrome
Omphalocele, Thin vermilion border, Anal atresia OMIM:182210
Peters-Plus Syndrome
Short lingual frenulum, Proximal placement of thumb, Polyhydramnios, Short metatarsal, Anteriorly... OMIM:261540
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... ORPHA:235
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Furrowed tongue, Hip ... OMIM:616975
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Esophageal stenosis OMIM:615510
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261537
Vascular Ehlers-Danlos Syndrome
Keratoconus, Congenital hip dislocation, Abnormal heart valve morphology, Peripheral arteriovenou... ORPHA:286
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Distal Deletion 10Q
Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios OMIM:617746
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, Abnorm... ORPHA:1052
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Leopard Syndrome 1
Missing ribs, Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmon... OMIM:151100
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Carious teeth, Velopharyngeal insufficien... OMIM:223370
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Renal Agenesis
Ventricular septal defect, Anal atresia, Oligohydramnios ORPHA:411709
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia ORPHA:2257
Frontometaphyseal Dysplasia
Metaphyseal widening, Short metatarsal, Oligodontia, Wrist flexion contracture, Short phalanx of ... ORPHA:1826
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Polyhydramnios, Tapered finger, Ankle flexion contracture, Short toe, ... ORPHA:464311
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Flexion contracture, Corneal scarring, High palate, Open mouth OMIM:614653
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral valve prolapse ORPHA:309155
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus OMIM:300968
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Retinoblastoma
Leukocoria, Uveitis, Cleft palate, Hypopyon, Heterochromia iridis ORPHA:790
Jacobsen Syndrome
Ventricular septal defect, Missing ribs, Pyloric stenosis, Microcornea, Clinodactyly of the 5th f... OMIM:147791
Alg12-Cdg
Edema, Polyhydramnios, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricula... ORPHA:79324
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... OMIM:107480
Bdv Syndrome
Atrial septal defect OMIM:619326
Yunis-Varon Syndrome
Congenital hip dislocation, Polyhydramnios, Short metatarsal, Hydrops fetalis, Short philtrum, Hi... OMIM:216340
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, Re... ORPHA:904
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Neuroocular Syndrome
Hyperextensibility of the finger joints, Tapered finger, Short uvula, Submucous cleft hard palate... OMIM:619539
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Downturned corners of mouth, Short philtrum, Premature... ORPHA:3455
Retinoblastoma
Leukocoria, Cleft palate OMIM:180200
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... OMIM:231005
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Multiple joint contract... ORPHA:464306
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Small hand, Fibula... ORPHA:444077
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Palpebral edema, Metatarsus adductus, Cleft palate, Epiphyseal stippli... OMIM:614866
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Anasarca, Thir... OMIM:619573
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... ORPHA:513456
Neurooculorenal Syndrome
Dextrocardia, Intestinal malrotation, Short hallux, Short 1st metacarpal, Mitral valve prolapse, ... OMIM:620305
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Pho... OMIM:268300
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Dehydration ORPHA:2260
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitral valve pro... ORPHA:363700
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, High, narrow palate, Thick lower lip vermi... ORPHA:369950
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect,... OMIM:270400
Cornelia De Lange Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Downturned corners of mouth, Widely... ORPHA:199
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 3
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... OMIM:610505
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:369837
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Polyhydramnios, Pyloric steno... OMIM:218040
Degcags Syndrome
Polyhydramnios, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hiatus herni... OMIM:619488
Stickler Syndrome
Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, Cleft upper lip, Open bit... ORPHA:828
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Diphallia
Duplicated colon, Inguinal hernia, Rectoperineal fistula, Absent thumb, Abnormal heart morphology... ORPHA:227
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy OMIM:619121
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... OMIM:620005
Coffin-Siris Syndrome 12
Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard palate, Hip sublu... OMIM:619325
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Patent foramen ovale OMIM:618076
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Large iliac wing,... ORPHA:2636
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension OMIM:619758
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... OMIM:619321
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal... ORPHA:1934
Fanconi Anemia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... ORPHA:84
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Absen... ORPHA:33364
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Microdontia, C... OMIM:194050
Khan-Khan-Katsanis Syndrome
Bilateral superior vena cava with no bridging vein, Tricuspid regurgitation, Patent foramen ovale... OMIM:618460
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... OMIM:606170
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios OMIM:213980
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios OMIM:300868
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis, Oligohydramnios OMIM:257300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Patent foramen ovale, Mitral regurgitation ORPHA:457395
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Ventricular septal defect, Short philtrum, Peripheral pulmonary artery stenosis OMIM:619575
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Kabuki Syndrome 1
Prominent fingertip pads, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, I... OMIM:147920
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a... OMIM:617403
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Congestive heart failure, Perimembranous ventricular septal defect OMIM:608779
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Complet... OMIM:227645
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Patent foramen ovale, Oligohydramnios, Abnormal heart morphology ORPHA:177907
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... ORPHA:363611
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Lymphedema, Ascending tubular aorta aneur... ORPHA:536471
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... ORPHA:730
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Penile Agenesis
Ventricular septal defect, Cloacal abnormality, Rectal fistula, Tracheoesophageal fistula, Atrial... ORPHA:49
Koolen-De Vries Syndrome Due To A Point Mutation
Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic valve, Ventricular sep... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic valve, Ventricular sep... ORPHA:363958
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro... ORPHA:391487
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Ventricular septal defect, Metaphyseal widening, Tibial bowing, Absent an... OMIM:259770
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Genitopatellar Syndrome
Atrial septal defect ORPHA:85201
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect ORPHA:261323
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Ventricular septal defect, Tapered finger, Carious teeth, Short thumb, Patent ductus a... OMIM:619522
Atypical Werner Syndrome
Premature arteriosclerosis, Prominent superficial veins, Lipoatrophy, Rocker bottom foot, Abnorma... ORPHA:79474
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Long fingers, ... OMIM:620330
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Xerostomia ORPHA:398069
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent... OMIM:242840
Gabriele-De Vries Syndrome
Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, High... OMIM:619475
Legius Syndrome
Mitral valve prolapse, Diaphyseal dysplasia, Multiple lipomas, Polydactyly, Pulmonic stenosis, Cl... ORPHA:137605
Leigh Syndrome
Hypertrophic cardiomyopathy, Multiple joint contractures, Ventricular septal defect ORPHA:506
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:881
Congenital Disorder Of Glycosylation, Type Iiw
Inguinal hernia, Ventricular septal defect, Supernumerary tooth, Tetralogy of Fallot, Ankyloglossia OMIM:619525
Craniofacial Microsomia 1
Ventricular septal defect, Cleft upper lip, Partial duplication of thumb phalanx, Patent ductus a... OMIM:164210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Ventricular septal defect OMIM:619418
Proboscis Lateralis
Ventricular septal defect, Agenesis of canine, Patent ductus arteriosus, Orofacial cleft, High pa... ORPHA:141099
Johanson-Blizzard Syndrome
Colonic diverticula, Ventricular septal defect, Malabsorption, Situs inversus totalis, Vascular d... OMIM:243800
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Mitral valve prolapse OMIM:607459
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitra... ORPHA:2556
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Righ... OMIM:620186
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619512
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale ORPHA:96149
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect ORPHA:522077
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, Abnormal ca... ORPHA:3310
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Oligohydramnios OMIM:619841
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Oligohydramnios OMIM:300896
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology ORPHA:280
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hyper... OMIM:619127
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect OMIM:269150
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect OMIM:609069
Poland Syndrome
Atrial septal defect, Dextrocardia ORPHA:2911
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Fg Syndrome 2
Broad hallux OMIM:300321
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Lipoatrophy, Intestinal malrotation ORPHA:2301

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Flna

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Flna.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Flnatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Flnatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter