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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... ORPHA:2484
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Broad distal phalanx o... OMIM:311300
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cleft palate, Omphalocele, Bowing of the long bones, Carpal s... ORPHA:90652
Melnick-Needles Syndrome
Tricuspid valve prolapse, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges ... OMIM:309350
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Rud... OMIM:304120
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage, Bicuspid aortic valve OMIM:300049
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Increased density of long bone diaphyses, Delayed eruption of teeth, G... OMIM:305620
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Terminal Osseous Dysplasia
Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Brachyd... OMIM:300244
Frontometaphyseal Dysplasia
Cleft palate, Progressive bowing of long bones, Abnormal heart morphology, Short distal phalanx o... ORPHA:1826
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Cleft palate, Oligodontia, Synostosis of carpal bones,... ORPHA:90650
X-Linked Ehlers-Danlos Syndrome
Hernia, Inguinal hernia, Umbilical hernia ORPHA:75497
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Fg Syndrome 2
Broad hallux OMIM:300321
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Lipoatrophy 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
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Short distal phalanx of finger, Truncus arteriosus, Cleft palate OMIM:601355
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... ORPHA:401935
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transpos... OMIM:231060
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of the ulna, Truncus arteriosus OMIM:228940
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, High, narrow palate, Cleft palate, Ventricular septal defect, Abn... ORPHA:2516
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Thin upper li... OMIM:601927
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Tetralogy of Fallot, Omphalocele, Lower ... OMIM:613630
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Overriding aorta, Adducted thumb, Hydrops fetalis, Long philtrum, Ove... OMIM:617022
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Emanuel Syndrome
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Congenital ... OMIM:609029
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... ORPHA:70589
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Abnormal rib morphology, ... ORPHA:93267
Double Outlet Right Ventricle
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Intestinal mal... ORPHA:3426
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... OMIM:619608
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Omphalocele OMIM:258320
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Finger syndactyly, Cleft pa... ORPHA:2008
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Bicuspid aortic valve, Triangular mouth, Abnormality of the dentition, Long ... OMIM:618529
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Femoral bowing, Situs inve... OMIM:615415
Adams-Oliver Syndrome 6
Syndactyly, Brachydactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncu... OMIM:616589
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Ventricular septal defect, Bilateral cleft lip and palate, Omphaloc... OMIM:601357
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... OMIM:618316
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Delayed erupt... ORPHA:96170
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Coat hanger sign of ribs, Ventricular septal defect, Polyhydramnios, Umbilical h... ORPHA:254534
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Radial deviation of the 2nd f... ORPHA:1388
Fibrochondrogenesis 1
Cleft palate, Omphalocele, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Cli... OMIM:228520
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... OMIM:179613
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... OMIM:612387
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... OMIM:220210
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Absent thumb OMIM:615272
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... ORPHA:99050
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... ORPHA:1067
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Flexion contracture, Inguinal hernia, Pulmonic stenosis, T... OMIM:608149
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Abnormal pericardium morphol... ORPHA:1335
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... OMIM:231100
Trisomy 1Q
Anal atresia, Narrow mouth, Congenital diaphragmatic hernia, Cleft palate, Arachnodactyly, Campto... ORPHA:261344
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Ventricular septal defect, Aplasia/Hypoplasia... ORPHA:2476
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, G... OMIM:201000
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Bifid uvula, Tetralogy of Fallot, Ventricula... OMIM:612561
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Ventricular septal defect, Umbilical hernia, Microcolon, Tetralogy o... OMIM:600001
Mmep Syndrome
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip ORPHA:3434
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Cataract, Epiphyseal stippling, Glossoptosis OMIM:614876
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema OMIM:614100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Overriding ... ORPHA:3304
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Long philtrum, Bra... OMIM:617895
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Tetralogy... OMIM:617992
Fetal Valproate Spectrum Disorder
Narrow mouth, Thin vermilion border, Long philtrum, Downturned corners of mouth, Omphalocele ORPHA:1906
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... OMIM:614326
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Long philtrum, Ventricu... ORPHA:261120
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydac... ORPHA:1937
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Microcornea, Dela... ORPHA:2712
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... ORPHA:95430
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... ORPHA:1686
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
High palate, Clinodactyly of the 5th finger, Pulmonic stenosis, Abnormality of the dentition, Sma... ORPHA:2868
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema ORPHA:171719
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Distal 22Q11.2 Microdeletion Syndrome
Cleft palate, Branchial fistula, Ulnar deviation of finger, Pyloric stenosis, Ventricular septal ... ORPHA:261330
Chromosome 9P Deletion Syndrome
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Inguinal her... OMIM:158170
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Miller-Dieker Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Abnormality of upper lip, Omphalocele ORPHA:531
Microcoria, Congenital
Miosis, Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Ventricular septal defect, Median cleft lip and palate, Omphalocele, Short long... OMIM:269860
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... ORPHA:99125
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Pulmonary va... OMIM:265380
Feingold Syndrome Type 2
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short ... ORPHA:391646
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... OMIM:126320
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Facial Spasm
Anisocoria OMIM:134300
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Metacarpophalangeal j... OMIM:619110
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Abnormal rib morphology, Ventricular sept... ORPHA:1354
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Narrow greater sciatic notch, Metaphyseal w... OMIM:263210
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Cleft palate, Ectopia cordis, Ventral hernia, P... OMIM:313850
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Cleft palat... ORPHA:2729
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, ... ORPHA:1692
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... ORPHA:3469
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... ORPHA:79094
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Splenomegaly, Cough, Angioedema, Restrictive ventilatory defect... ORPHA:36412
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Hepatic failure, Portal hypertension, Emphysema OMIM:210050
Melnick-Needles Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... ORPHA:2484
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot, Developmental glaucoma OMIM:187501
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios OMIM:617021
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Short thumb, Ventricular septal defect, Patent ductus arteriosu... OMIM:617516
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Triploidy
Wide mouth, Narrow mouth, Abnormal cardiac septum morphology, Cleft palate, Macroglossia, Intesti... ORPHA:3376
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Pate... ORPHA:90308
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Myopathy, Congenital, Nonprogressive
Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619967
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Pyloric stenosis, Ventri... OMIM:614262
8P23.1 Duplication Syndrome
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion... ORPHA:251076
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Acalvaria
Postaxial hand polydactyly, Cleft palate, Omphalocele ORPHA:945
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... ORPHA:2059
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Tongue fasciculations, Atrial septal defect OMIM:253300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, High, narrow palate, Ventricular septal defect, Dilated cardiomyo... ORPHA:2515
C Syndrome
High palate, Wide mouth, Accessory oral frenulum, Dislocated radial head, Ulnar deviation of fing... OMIM:211750
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Pseudotrisomy 13 Syndrome
Cleft upper lip, Anal atresia, Tricuspid atresia, 2-3 toe syndactyly, Atrial septal defect, 11 pa... OMIM:264480
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect, Umbilical her... ORPHA:2143
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... ORPHA:371428
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Clinodactyly of the 5th finger, Ventricular septal defect, Deep philtr... OMIM:619717
16P13.11 Microduplication Syndrome
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... ORPHA:261243
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megac... OMIM:235750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormality of lower lip, Abnormal... ORPHA:1166
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Cleft palate, Ventricular septal defect, Anteriorly placed anus, Omphalocele, A... OMIM:616894
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, O... ORPHA:477817
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... OMIM:618658
3Mc Syndrome 1
Cleft upper lip, Abnormality of the abdominal wall, Clinodactyly of the 5th finger, Atrial septal... OMIM:257920
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Short philtrum, Ventricular septal defect, Widely-spaced maxillary central ... OMIM:608227
Distal Trisomy 15Q
High palate, Anal atresia, Arachnodactyly, Camptodactyly of finger, Long philtrum, Downturned cor... ORPHA:1707
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:617044
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Broad distal phalanx o... OMIM:311300
Tetralogy Of Fallot
Thin vermilion border, Clinodactyly of the 5th finger, Brachydactyly, Tetralogy of Fallot ORPHA:3303
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... OMIM:251880
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Clinodactyly OMIM:618506
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the distal phalanges of the han... ORPHA:94066
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Lymphopenia, Aplasia of the thymus, Abnormally low T cell ... OMIM:242700
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... OMIM:618782
Iatrogenic Botulism
Mydriasis ORPHA:254509
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft palate, Ventricular septal defect, Broad ribs, Omphalocele, Thick lower lip ve... OMIM:300373
Omphalocele
Omphalocele ORPHA:660
Maternal Phenylketonuria
High palate, Double outlet right ventricle, Hypoplastic left heart, Long philtrum, Coarctation of... ORPHA:2209
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fallot, Unilateral cleft lip, Aplas... ORPHA:1919
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Abnormality of the dentition, Ventricular septal defect, Hypo... ORPHA:2092
Heart And Brain Malformation Syndrome
Ventricular septal defect, Polyhydramnios, Interrupted aortic arch OMIM:616920
Catel-Manzke Syndrome
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Hyperphalangy of the 2nd finger, Cl... OMIM:616145
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Rib fusi... OMIM:134780
Mucolipidosis Type Iii
Large iliac wing, Inguinal hernia, Cleft palate, Abnormal hip bone morphology, Abnormal aortic va... ORPHA:577
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Small hand, Long philtrum, Ventricular septal defect, Aortic root aneurysm,... OMIM:145420
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Absent thumb, Pulmonic stenosis, Bifid uvula, Submucous cleft hard palate OMIM:619239
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... OMIM:231530
Wound Botulism
Mydriasis ORPHA:178475
Codas Syndrome
Anal atresia, Metaphyseal dysplasia, Atrial septal defect, Delayed ossification of carpal bones, ... OMIM:600373
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Genu valgum, Cataract, Abnorma... ORPHA:1381
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... ORPHA:2255
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Esophageal varix, Gene... OMIM:619534
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Inhalational Botulism
Mydriasis ORPHA:254504
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Inguinal h... OMIM:608572
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Inguinal hernia, Long philtrum, Camptodactyly, Mitral valve prolapse OMIM:211960
Meckel Syndrome 14
Tricuspid regurgitation, Single ventricle, Mitral regurgitation, Oligohydramnios, Increased nucha... OMIM:619879
Vacterl/Vater Association
Anal atresia, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, ... ORPHA:887
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis OMIM:604571
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Progeroid Facial Appearance With Hand Anomalies
Reduced subcutaneous adipose tissue, Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion... OMIM:602249
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Open mouth OMIM:616816
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Omphalocele ORPHA:85174
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Trigonocephaly With Short Stature And Developmental Delay
High palate, Clinodactyly of the 5th finger, Inguinal hernia, Ventricular septal defect, Broad al... OMIM:314320
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cleft palate, Omphalocele, Bowing of the long bones, Carpal s... ORPHA:90652
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Hypodontia, Ectopia pupillae, Posterior embryotoxon, Microdontia, Hypoplasi... OMIM:602482
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Camptodactyly, Ventricu... OMIM:613458
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Perineal fistula, Anal atre... ORPHA:2538
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... ORPHA:2669
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Microdontia, Tetralogy of Fallot, Ventricular septal defect, Pa... OMIM:601005
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... OMIM:605376
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... ORPHA:101028
Gillespie Syndrome
Truncus arteriosus OMIM:206700
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Short philtrum... ORPHA:1617
Constricting Bands, Congenital
Cleft upper lip, Cleft palate, Syndactyly, Bladder exstrophy, Ectopia cordis, Omphalocele, Hand p... OMIM:217100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Tachypnea, Hypert... OMIM:201475
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Predominantly lower limb lymphedema, Cleft palate, Cellulitis, Tetralogy of Fall... OMIM:153400
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Schisis Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Unilatera... ORPHA:63862
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Inguinal hernia, Ventricular septal defect, Broad secondary alveolar ridge, Fifth fi... ORPHA:3369
Megalocornea
Miosis, Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cata... OMIM:309300
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Double outlet right ventric... OMIM:190685
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Short lower limbs, Omphalocele, Lower limb undergrowth OMIM:236640
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Distal Monosomy 6P
Corneal opacity, Clinodactyly of the 5th finger, Atrial septal defect, Abnormal anterior chamber ... ORPHA:96125
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619189
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Narrow mouth, Inguinal hernia, Adducted thumb, Arachnodactyly, Long philtrum, Campto... OMIM:615539
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Trisomy 18
Anal atresia, Narrow mouth, Narrow palate, Atrial septal defect, Congenital diaphragmatic hernia,... ORPHA:3380
Specc1L-Related Hypertelorism Syndrome
Short toe, Clinodactyly of the 5th finger, Atrial septal defect, Everted lower lip vermilion, Thi... ORPHA:1519
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:601450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Decreased mean corpuscular volume, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Bra... OMIM:612938
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Botulism
Mydriasis ORPHA:1267
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Abnormality of the abdominal wall, Duodenal atresia, Clinodactyly of t... OMIM:247200
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Short philtrum, Syndactyly... OMIM:300963
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... ORPHA:99094
Opitz Gbbb Syndrome
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... ORPHA:2745
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Brachydac... ORPHA:52056
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect,... OMIM:618974
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Melnick-Needles Syndrome
Tricuspid valve prolapse, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges ... OMIM:309350
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Intestinal malrotation, Syndacty... OMIM:601163
Fibrochondrogenesis
Narrow mouth, Cleft palate, Short ribs, Camptodactyly of finger, Brachydactyly, Abnormal rib morp... ORPHA:2021
Omphalocele, X-Linked
Omphalocele OMIM:310980
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bifid tongue... OMIM:616300
15Q14 Microdeletion Syndrome
Atrial septal defect, Cleft palate, Inguinal hernia, Abnormality of the dentition, Short philtrum... ORPHA:261190
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Hypophosphatasia
Anemia, Respiratory insufficiency, Emphysema ORPHA:436
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Foodborne Botulism
Mydriasis ORPHA:228371
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios,... ORPHA:3405
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Cleft p... OMIM:600987
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Intracranial hemorrhage, Heart murmur, Ventricular septal defect, Patent du... ORPHA:163979
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate OMIM:216300
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension OMIM:613870
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Anteriorly plac... OMIM:618624
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Intestinal obstructi... OMIM:243150
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Myocardial eosinophilic infiltration, Anemia, T... OMIM:131400
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Brachydactyly, Broad thumb, Esophageal atresia, Smooth p... OMIM:614526
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Atrioventricular canal defect, Ventricular septal defect, Broad hallux, Clinodacty... ORPHA:508498
Lambert Syndrome
Ventricular septal defect, Wide mouth, Inguinal hernia, Branchial anomaly ORPHA:1296
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Prominent fin... OMIM:612863
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Aortic Aneurysm, Familial Thoracic 9
High palate, Thoracic aortic aneurysm, Arachnodactyly, Aortic tortuosity, Ascending aortic dissec... OMIM:616166
Craniofacioskeletal Syndrome
Ventricular septal defect, Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect OMIM:300712
Kennerknecht syndrome
High palate, Malrotation of colon, Toe clinodactyly, Hypodontia, Omphalocele, Acetabular dysplasi... OMIM:600908
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Hydrops fetalis, A... OMIM:212093
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Hypodontia, High, narrow palate, Glossoptosis, Camptod... ORPHA:3201
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Inguinal hernia, Congenital hip dislocation, De... ORPHA:2412
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Unilateral cleft lip, Omphalocele, Cleft soft palate ORPHA:2736
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Brachydactyly, Ventricular septal defect, Cataract, Ect... ORPHA:3449
8Q12 Microduplication Syndrome
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... ORPHA:228399
Mcdonough Syndrome
Diastasis recti, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic steno... OMIM:248950
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Aplastic anemia, Myocarditis, B lymphocytopenia, Increased pro... ORPHA:2442
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Hepatocellular n... OMIM:256000
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th fin... ORPHA:52
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... ORPHA:391641
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Fryns Syndrome
Wide mouth, Cleft palate, Prominent fingertip pads, Ventricular septal defect, Tented upper lip v... OMIM:229850
Tyshchenko Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic ste... OMIM:615102
17Q12 Microduplication Syndrome
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Polyhydramnios, Finger syndactyly,... ORPHA:261272
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Macroglossia, Flexion contractur... ORPHA:254528
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Dental malocclusion, Narrow mouth, Macrodontia of permanent ma... OMIM:257850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Abnormality of the humerus, Tetralogy of Fallot, Oral cleft, Hypoplasia... ORPHA:3186
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Cleft palate, Ventricular septal defect, Cervical ribs OMIM:609654
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Slender finger, Cutaneous syndactyly of toes, Bifid uvula, Umbilical hernia,... ORPHA:2872
Trisomy 9P
Clinodactyly of the 5th finger, Abnormal pupil morphology, Impacted tooth, Brachydactyly, Downtur... ORPHA:236
Donnai-Barrow Syndrome
Short sternum, Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect... OMIM:222448
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... OMIM:263630
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Abnormality of ... ORPHA:3163
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Frank-Ter Haar Syndrome
High palate, Wide mouth, Ventricular septal defect, Bowing of the long bones, Short long bone, Do... OMIM:249420
Trigonocephaly 1
Meckel diverticulum, Omphalocele OMIM:190440
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Rud... OMIM:304120
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Pulmonic ste... OMIM:617877
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Velocardiofacial Syndrome
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Int... OMIM:192430
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Clinodactyly of the 5th finger, Inguina... ORPHA:137834
Alg9-Cdg
Wide mouth, Ventricular septal defect, Lipodystrophy, Omphalocele, Short long bone, Abnormal hear... ORPHA:79328
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Common Variable Immunodeficiency
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemi... ORPHA:1572
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Narrow mouth, Postaxial hand polyd... ORPHA:83473
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Ectopia pupillae, Oligodon... OMIM:618727
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology OMIM:184800
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... OMIM:615502
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Long philtrum, Tetralogy of Fallot, Sandal gap, Ventricular hypertrophy OMIM:300887
Char Syndrome
No permanent dentition, Clinodactyly of the 5th finger, Persistence of primary teeth, Triangular ... ORPHA:46627
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Pulmonic stenos... OMIM:618223
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hypodontia, Pulmonic stenosis, Overlapping fingers, Pulmonary arte... OMIM:301056
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, H... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Carcinoid Syndrome
Asthma, Bronchospasm, Elevated hepatic transaminase, Rhinorrhea, Hepatic necrosis ORPHA:100093
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Mitral valve prolapse, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Brachydactyly, Ectopia lentis OMIM:613195
Aase-Smith Syndrome I
Slender finger, Flexion contracture, Cleft palate, Ventricular septal defect, Open mouth OMIM:147800
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO OMIM:618913
Mitral Valve Prolapse 1
High palate, Mitral valve prolapse, High, narrow palate OMIM:157700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... ORPHA:49827
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Malrotation of small bowel, Oral cleft, Ventr... ORPHA:139466
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia OMIM:616276
Cerebrocostomandibular Syndrome
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Atrial septal defect... OMIM:117650
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Wide mouth, Peripheral pulmonary artery stenosis, Mitral stenosis,... ORPHA:163956
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Situs i... ORPHA:244
Brachydactyly, Type B1
Joint contracture of the hand, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of the... OMIM:113000
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hepatic periportal necrosis, Elevated hepatic transaminas... ORPHA:26791
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gingival overgrowth, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Ab... ORPHA:1834
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... OMIM:108800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Prune belly, Cervical ribs, Omphalocele, Preaxial hand polydactyly OMIM:601389
3P25.3 Microdeletion Syndrome
Cleft palate, Short philtrum, 2-3 finger syndactyly, Tapered finger, Pyloric stenosis, Ventricula... ORPHA:435638
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Prune Belly Syndrome
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Congenital hip di... ORPHA:2970
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Polydactyly, Postaxial hand polydactyly, Omphalocele, Bowin... OMIM:603194
German Syndrome
High palate, Abnormal cardiac septum morphology, Everted lower lip vermilion, Camptodactyly of fi... ORPHA:2077
Simpson-Golabi-Behmel Syndrome
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital hip di... ORPHA:373
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... OMIM:272440
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormality of the dentition, Abnormality of the philtrum, Tetralogy of ... ORPHA:276422
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Intestinal malrotation, Abnormal rib morphology, Abnormality of fib... ORPHA:3035
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Polyvalvular Heart Disease Syndrome
High palate, Aortic valve stenosis, Pulmonic stenosis, Short philtrum, Mitral valve prolapse, Den... ORPHA:228410
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... OMIM:156810
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Campto... OMIM:619343
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Interrupted aortic arch, Patent ductus arteriosus ORPHA:250989
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Neonatal death, Pulmonary hypoplasia, Hepatic periportal necr... OMIM:231680
Nocardiosis
Respiratory distress, Cutaneous abscess, Nonproductive cough, Peritonitis, Endocarditis, Brain ab... ORPHA:31204
Holoprosencephaly-Postaxial Polydactyly Syndrome
Anal atresia, Narrow mouth, Abnormal cardiac septum morphology, Cleft palate, Intestinal malrotat... ORPHA:2166
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Ventricular septal... ORPHA:7
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Preaxial polydactyly, ... OMIM:618142
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Isolated Anencephaly
Cleft lip, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Lobulate... OMIM:174300
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Wide mouth, Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Slender ... ORPHA:329224
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Hypodon... OMIM:612350
Triopia
Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma, Median cleft lip ORPHA:3374
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Intestinal malrotation, Polyhydramnios, Umbilical hernia, Omphalocele, Mic... ORPHA:2241
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate ORPHA:506353
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Brachydactyly, Sy... ORPHA:3238
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Anemia, Polycythemia, Thrombocyt... ORPHA:88673
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Ventricular septal defect, Cleft lip, Broad philtrum, Pericallosal li... ORPHA:398156
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, In... ORPHA:2847
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate, Aplasia/Hypoplasia... OMIM:192445
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Narrow mouth, Atrial septal defect, Cleft palate ORPHA:93946
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Atrial septal defect, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Tooth agenesis, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Edema, Clubbing of fingers OMIM:605676
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Hypertrophic cardiomyopathy, Flexion contracture, Short... OMIM:616897
Immunodeficiency 89 And Autoimmunity
Asthma, Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infe... OMIM:619632
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Abnormality of vertebral epiphysis morphology, Mitral valve prolapse... ORPHA:90653
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cleft palate OMIM:214300
Zechi-Ceide Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Short ... ORPHA:217017
Netherton Syndrome
Asthma, Dehydration, Recurrent respiratory infections, Emphysema ORPHA:634
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Buratti-Harel Syndrome
High palate, Clinodactyly of the 5th finger, Atrial septal defect, Velopharyngeal insufficiency, ... OMIM:619314
Galloway-Mowat Syndrome 7
High palate, Cleft palate, Arachnodactyly, Partial duplication of thumb phalanx, Ventricular sept... OMIM:618348
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short philtru... ORPHA:96334
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Bifid uvula, Tetralogy of Fallot, Coarctation of aorta, Ve... OMIM:617159
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of primary teeth, Atrial septal defect, Ventricular septal defect, Pat... OMIM:619769
Cardioacrofacial Dysplasia 2
Accessory oral frenulum, Clinodactyly of the 5th finger, Hypodontia, Atrioventricular canal defec... OMIM:619143
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cleft palate, Abnormality of the dentition, Short philtrum, Carious teeth, Ven... ORPHA:567
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Abnormality of the dentition OMIM:616901
Loeys-Dietz Syndrome 4
High palate, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration of the esophag... OMIM:614816
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect, Keloids ORPHA:357225
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Atrial septal defect, Arachnodactyly, Genu valgum, Sandal gap, Umbilical hernia ORPHA:1035
Trisomy 13
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentiti... ORPHA:3378
Abruzzo-Erickson Syndrome
Short toe, Atrial septal defect, Cleft palate, Brachydactyly, Ulnar deviation of finger, Radiouln... ORPHA:921
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Long phi... ORPHA:576283
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Atrial septal defect, Inguinal hernia, Long philtrum, Polydactyly, Brach... OMIM:618950
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Serotonin Syndrome
Mydriasis ORPHA:43116
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Abnormal rib morphology, Abn... ORPHA:2345
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Small hand, Camptodactyl... OMIM:619980
Nephrotic Syndrome, Type 11
High palate, Cleft palate, Arachnodactyly, Partial duplication of thumb phalanx, Ventricular sept... OMIM:616730
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Stillbirth, Single ventricle OMIM:308050
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Atrioventricular canal defect, Postaxial polydactyly, Short philtrum, Di... OMIM:619142
Esophageal Atresia
Duodenal atresia, Cleft palate, Barrett esophagus, Intestinal malrotation, Tracheoesophageal fist... ORPHA:1199
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Short lingual frenulum, Pulmonary artery hypoplasia,... ORPHA:2326
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Pulmonary valve atresia, Cleft palate, Arachnodactyly, Short philtrum, ... ORPHA:96129
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Sarcoidosis, Susceptibility To, 1
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxemia, Splenomegal... OMIM:181000
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Small hand, Apl... ORPHA:1425
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arteriosus, Patent foramen ovale... ORPHA:17
Marshall-Smith Syndrome
High palate, Short sternum, Slender finger, Prominent fingertip pads, Distal widening of metacarp... OMIM:602535
Coffin-Siris Syndrome 7
Wide mouth, Bicuspid aortic valve, Clinodactyly of the 5th finger, Short philtrum, Brachydactyly,... OMIM:618027
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Vent... OMIM:115197
Pelger-Huet Anomaly
Gingival overgrowth, Median cleft palate, Abnormality of the dentition, Polydactyly, Upper limb u... OMIM:169400
Non-Syndromic Posterior Hypospadias
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele, Esophageal atresia ORPHA:95706
Acrocallosal Syndrome