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