Gene Summary

Name:
coactivator-associated arginine methyltransferase 1
Synonyms:
m9Bei,  Prmt4

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Carm1tm1b(EUCOMM)Hmgu HET   Early adult 2.91×10-05
preweaning lethality, complete penetrance Carm1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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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 Carm1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Carm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Omphalocele OMIM:258320
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Brain abscess, Abnormal bleeding, Transient ischemic attack, I... ORPHA:2038
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Stillbirth, Abnormal heart morphology, Polydactyly, Upper limb phocome... ORPHA:294975
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, He... ORPHA:185
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, C... OMIM:611867
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Hemothorax, Abno... ORPHA:79
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Truncus arteriosus... ORPHA:401935
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Abnormal lung lobation, Intrauterine growth ... ORPHA:2516
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, C... OMIM:601355
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro... OMIM:613630
Fetal Valproate Spectrum Disorder
Downturned corners of mouth, Long philtrum, Narrow mouth, Omphalocele, Thin vermilion border ORPHA:1906
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Schisis Association
Unilateral cleft lip, Micromelia, Encephalocele, Congenital diaphragmatic hernia, Microcephaly, T... ORPHA:63862
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Transposition of the great arterie... OMIM:231060
Miller-Dieker Syndrome
Cerebral cortical atrophy, Abnormal upper lip morphology, Hypoplasia of the corpus callosum, Omph... ORPHA:531
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Heart murmur, Narrow mouth, ... ORPHA:3426
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Omphalocele
Omphalocele ORPHA:660
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Ventricular septal def... OMIM:601357
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defect, Patent duc... OMIM:618316
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Truncus arteriosus, Ventricular ... OMIM:616589
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... OMIM:619773
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Clinodactyly, Dysplastic corpus callosum, Abnormal cerebral white m... ORPHA:500166
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Acalvaria
Cleft palate, Spina bifida, Omphalocele, Postaxial hand polydactyly ORPHA:945
Pseudodiastrophic Dysplasia
Talipes equinovarus, Rhizomelia, Phalangeal dislocation, Omphalocele ORPHA:85174
Emanuel Syndrome
Aortic valve stenosis, Dental crowding, Long philtrum, Intestinal malrotation, Intrauterine growt... OMIM:609029
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Mitral valve prolapse, Talipes equinovarus, Pulmonary bulla, Finger joint hypermob... OMIM:130050
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial sep... OMIM:601927
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Abnormal ... ORPHA:1335
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa... OMIM:187300
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Downturned corners of mouth, Abnormal metaphysis morphology, Ventricular septal defec... ORPHA:93267
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Atrial septal defect, Ana... OMIM:175700
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:96170
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Intrauterine growth retardat... ORPHA:1707
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl... ORPHA:1937
Verheij Syndrome
Short 5th finger, Branchial cyst, Long philtrum, Clinodactyly, Intrauterine growth retardation, T... OMIM:615583
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death... OMIM:618845
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Congenital diaphr... ORPHA:2141
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Inguinal hernia, Ventricular septal defect, Coxa valga, Pulmonary... OMIM:608149
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Atrial septal defect, A... OMIM:249670
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Chromosome 9P Deletion Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Patent ductus arterio... OMIM:158170
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arte... OMIM:313850
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Talipes equinovarus, Flexion contracture, Hypoplasia of the corpus ca... OMIM:613162
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Truncus arterio... OMIM:617478
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal... OMIM:604213
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress, Aspiration p... OMIM:619057
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Agenesis of corpus callosum, Talipes equinovarus, Microcephaly, ... OMIM:616570
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Intrauterine growth retardation, Overlapping fingers, Femoral bowin... OMIM:617022
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Congenital diaphragmatic hernia, Ventricular septal defect, Atr... OMIM:600001
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle ... ORPHA:99827
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Genu valgum, Ventricular septal defect, Complete d... OMIM:201000
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Radial deviation of the 2nd finger, Metatarsus valgus, Ve... ORPHA:1388
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Nemaline Myopathy 9
High palate, Arthrogryposis multiplex congenita, Cleft palate, Ventricular septal defect OMIM:615731
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Thin upper lip vermilion, Persistent left superior vena ca... ORPHA:3304
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,... OMIM:614039
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Intrauterine growth retardation, Ventric... ORPHA:2515
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Prominent fingertip pads,... OMIM:618529
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long philtrum, Microcephaly, Omphalocele OMIM:190440
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul... ORPHA:1354
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Death in childhood, Ventricular septal defect, Pulmonary artery atresia, Lef... OMIM:613759
Isolated Anencephaly
Intrauterine growth retardation, Cleft lip, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm, Dextrotranspo... OMIM:619657
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal ... ORPHA:371428
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Encephalocele, Talipes equinovarus, Hand ... OMIM:217100
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:2143
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Micromelia, Long philtrum, Ventricular septal defect, Postaxial polydactyly, Syndactyly, Brachyda... OMIM:617895
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, Smooth philtr... OMIM:263210
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Omphalocele, Cleft palate ORPHA:2736
Triploidy
Finger syndactyly, Intestinal malrotation, Intrauterine growth retardation, Narrow mouth, Omphalo... ORPHA:3376
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Teebi Hypertelorism Syndrome 1
Small hand, Aortic root aneurysm, Natal tooth, Long philtrum, Dental crowding, Ventricular septal... OMIM:145420
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Multiple lipomas, Hand polydactyly, Sacral lipoma, Cleft palate OMIM:223200
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricul... ORPHA:261120
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Fryns Syndrome
Congenital diaphragmatic hernia, Anal atresia, High palate, Non-midline cleft of the upper lip, D... ORPHA:2059
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... OMIM:608647
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cleft... OMIM:616894
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Pat... OMIM:617516
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sep... OMIM:615524
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Split foot ORPHA:3434
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation, Brachydactyly, Thin vermilion border, Clino... ORPHA:3303
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu... OMIM:263000
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Jejunal atresia, Ventricular septal defect, Brachydactyly, Short mid... ORPHA:391646
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion bo... ORPHA:251076
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa... ORPHA:1692
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Complete atrioventricular canal... OMIM:264480
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Death in infancy, Neonatal death OMIM:619334
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Clinodactyl... OMIM:601163
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstruction, Bowing ... ORPHA:321
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... OMIM:614262
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral r... OMIM:612561
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Long philtrum, Tetralogy of Fallot, Abnormal heart morpholo... ORPHA:2209
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Cerebral calcification, T... ORPHA:3035
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal lower lip morphology, Congenital diaphragmatic hern... ORPHA:1166
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Short-Rib Thoracic Dysplasia 12
Natal tooth, Ventricular septal defect, Neonatal death, Short foot, Patent ductus arteriosus, Sho... OMIM:269860
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Open bite, Congenital diaphragmatic hernia, Ventricular septal... ORPHA:2092
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Inguinal hernia OMIM:615542
Trisomy 1Q
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Narrow mouth, Congenital diap... ORPHA:261344
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Dysplastic corpus callosum, Clinodactyly of the 5th finger, Broad philtr... ORPHA:502430
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cerebral dysmyelination, Microcephaly, High pa... OMIM:201550
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Clinoda... OMIM:619717
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Joint contracture of the hand, Midline brain calcifications, Delayed eruption of t... OMIM:247200
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
3Mc Syndrome 1
Short 5th finger, Cleft lip, Dental crowding, Cleft upper lip, Clinodactyly of the 5th finger, Di... OMIM:257920
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Cleft lip, Umbilical hernia, Congenital diaphragmatic hernia, Paten... OMIM:618454
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Hyperekplexia 4
Cerebral atrophy, Umbilical hernia, Inguinal hernia, Talipes equinovarus, Distal arthrogryposis, ... OMIM:618011
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve m... ORPHA:1919
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Intrauterine growth retardation, Death ... OMIM:245400
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Pulmo... OMIM:208530
Melnick-Needles Syndrome
Tooth malposition, Short distal phalanx of finger, Delayed eruption of teeth, Bowing of the long ... ORPHA:2484
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, A... OMIM:311300
Lowry-Maclean Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate OMIM:600252
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele, Cleft palate ORPHA:217
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Duodenal atresia, Atrial reentry tachycardia, Atrioventr... OMIM:270100
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Preaxial hand polydactyly, Talipes equinovarus, Omphalocele, Anal atresia OMIM:601389
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Ankyloglossia, Congenital diaphragmatic hernia, Ventricular se... ORPHA:2745
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Ventricular septal defect, Thin upper lip vermil... OMIM:616652
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Long philtrum, Umbilical hernia, Tetralogy of Fallot, Short toe, Clinodactyly ... ORPHA:1519
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Narrow mouth, Encephalocele, Anod... ORPHA:90652
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology... ORPHA:83473
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure ORPHA:1832
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Cleft palate ORPHA:95706
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis ORPHA:1198
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the d... ORPHA:94066
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure OMIM:620326
Fibrochondrogenesis 1
Joint contracture of the hand, Small hand, Rhizomelia, Stillbirth, Long philtrum, Narrow mouth, P... OMIM:228520
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Inguinal hernia, Ventricular septal defect, W... ORPHA:1296
Microgastria-Limb Reduction Defect Syndrome
Esophagitis, Perineal fistula, Abnormal metacarpal morphology, Atrial septal defect, Rectal atres... ORPHA:2538
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Toe syndactyly, Prominent fingertip pads, Long philtrum, Sandal gap... OMIM:609625
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic... OMIM:300887
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri... ORPHA:567
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... ORPHA:254875
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Ventricular septal defect, Thin upper lip vermilion, Atrial septal defect, Pulmonary... OMIM:618330
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Postaxial foot polydactyly, Intrauterine growth retardation, Overlapping fingers, Ven... OMIM:301056
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Intrauterine growth retardation, Large placenta, Diastasis recti, Inguinal hern... ORPHA:254528
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula... OMIM:115197
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Short ... OMIM:600987
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Pneumocystosis
Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ... ORPHA:723
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:171680
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Ventricular septal defect, Arachnoda... OMIM:300373
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida, Omphalocele ORPHA:1756
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Weaver-Williams Syndrome
Microcephaly, Narrow mouth, Cleft palate ORPHA:3448
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect, Clinodactyly of the 5th finger, High palate, Broad al... OMIM:314320
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral re... ORPHA:75249
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... ORPHA:1913
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Immunodeficiency 54
Intrauterine growth retardation, Recurrent respiratory infections, Respiratory failure, Respirato... OMIM:609981
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Klippel-Trénaunay Syndrome
Cellulitis, Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive ... ORPHA:90308
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Humeroradial synostosis, Ventricular septal defect, Talipes equino... OMIM:134780
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Broad secondary alveolar ridge, Inguinal hernia, Ventri... ORPHA:3369
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Ao... ORPHA:508498
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Small basal ganglia, Gingival overgrowth, Tented upper lip vermilion, Periventr... OMIM:616900
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Inguinal h... OMIM:619602
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Auriculocondylar Syndrome 2B
Mandibular condyle hypoplasia, Hypoplasia of the corpus callosum, Narrow mouth, Omphalocele OMIM:620458
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu... OMIM:620393
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Immunodeficiency 9
Lymphopenia, Death in infancy, Hypoplasia of the thymus, Amelogenesis imperfecta, Abnormal natura... OMIM:612782
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Trisomy 18
Narrow palate, Deviation of finger, Camptodactyly of finger, Intrauterine growth retardation, Nar... ORPHA:3380
Adams-Oliver Syndrome 5
Umbilical hernia, Inguinal hernia, Patent foramen ovale, Pulmonary arterial hypertension, Esophag... OMIM:616028
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi... ORPHA:392
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Cleft maxillary... ORPHA:508488
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure ORPHA:70587
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Inguinal hernia, Ventricular septal defect, Smooth p... ORPHA:261190
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, Everted lower lip vermilion, Atrial septa... ORPHA:228399
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Or... ORPHA:2166
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... OMIM:618042
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Narrow mouth, Inguinal hernia, Ventricular septal defect, 2-3 toe s... OMIM:608572
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cleft lip, Natal tooth, Lobulated tongue, Short tibia, Preaxial polydactyly, Hamartom... OMIM:616300
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Clubbing of toes, Downturned corners of mouth, Recurrent re... ORPHA:163956
Marshall-Smith Syndrome
Aspiration pneumonia, Irregular dentition, Ventricular septal defect, Premature ventricular contr... OMIM:602535
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, Umbilical hernia, Congenital d... OMIM:222448
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Diprosopus
Cleft palate, Anencephaly, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology ORPHA:1681
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Ventricular septal defect... OMIM:280000
Cardiomyopathy, Familial Hypertrophic, 26
Atrioventricular block, Left anterior fascicular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Li-Campeau Syndrome
Long philtrum, Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septa... OMIM:619189
Melnick-Needles Syndrome
Tooth malposition, Short distal phalanx of finger, Delayed eruption of teeth, Flared metaphysis, ... OMIM:309350
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, High palate, Patent du... OMIM:612474
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, Anterior open-bite m... OMIM:617877
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Dental crowding, Umbilical her... OMIM:619769
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Prot... OMIM:612938
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Bicuspid aortic v... ORPHA:363705
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th... OMIM:618974
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... OMIM:618164
Developmental And Epileptic Encephalopathy 89
Long philtrum, Cerebral atrophy, Hypoplasia of the corpus callosum, Thin upper lip vermilion, Smo... OMIM:619124
Fryns Syndrome
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Anal atresia, Duo... OMIM:229850
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Intrauterine growth retardation, Ventricular septal defect, A... OMIM:615102
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Intrauterine growth retardation, Abno... OMIM:272440
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal de... OMIM:618652
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Iniencephaly
Lissencephaly, Rhizomelia, Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, Cong... ORPHA:63259
Alg9-Cdg
Ventricular septal defect, Talipes equinovarus, Atrial septal defect, Abnormal heart morphology, ... ORPHA:79328
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Ventricular septal defect, Bowing of th... OMIM:614815
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Inguinal her... OMIM:618950
Codas Syndrome
Delayed eruption of teeth, Atrioventricular canal defect, Genu valgum, Short humerus, Ventricular... OMIM:600373
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,... ORPHA:99104
Esophageal Atresia
Pyloric stenosis, Barrett esophagus, Cleft lip, Bronchitis, Clinodactyly, Tetralogy of Fallot, In... ORPHA:1199
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal de... OMIM:618624
Distal Deletion 15Q
Small hand, Genu valgum, Congenital diaphragmatic hernia, Bicuspid aortic valve, Talipes equinova... ORPHA:1596
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Congenital diaphragm... ORPHA:991
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Intrauterine growth retardation, Overlapping toe, Overlapping fingers, Vent... OMIM:618142
Down Syndrome
Clinodactyly, Protruding tongue, Ventricular septal defect, Atrial septal defect, Anal atresia, P... OMIM:190685
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Holoprosencephaly
Congenital diaphragmatic hernia, Encephalocele, Ventricular septal defect, Arrhythmia, Aplasia/Hy... ORPHA:2162
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... ORPHA:261183
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure OMIM:620296
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Stroke, Paroxysmal atrial tachycardia, Atria... ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular sept... ORPHA:373
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Pericallosal lipoma, Ventricular septal defect, Broad phi... ORPHA:398156
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid... OMIM:614473
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Duodenal atresia, Median cleft palate, Patent foramen ovale, Ventricular ... OMIM:301043
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, Arachnodactyly... ORPHA:91387
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Dental malocclusion, Flared metaphysis, Gingival overgrowth, Mitra... OMIM:249420
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Roifman Syndrome
Recurrent pneumonia, Downturned corners of mouth, Long philtrum, Short toe, Intrauterine growth r... OMIM:616651
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Umbilical hernia, Inguinal he... ORPHA:329224
Aase-Smith Syndrome I
Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Flexion contracture, ... OMIM:147800
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Fibrochondrogenesis
Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Narrow mouth, Brachydactyly, ... ORPHA:2021
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Intrauterine gr... ORPHA:1908
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Long philtrum, Tented upper lip vermilion, Dysplastic corpus callosum, Microcephaly, High palate,... OMIM:620001
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Ventricular septal defect, Contract... OMIM:300166
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defec... OMIM:619980
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate OMIM:619452
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Atrial septal defect, Ventricular septal defect ORPHA:357225
Cirrhotic Cardiomyopathy
Abnormal bleeding, Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrh... ORPHA:57777
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callosum, Postaxial han... OMIM:614120
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Inferiorly positioned umbilicus, Absent radius, Anal atresia, Short metacarp... OMIM:263650
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Mitral regurgitation, Ventricular septal defect, Brachydactyl... ORPHA:3449
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def... ORPHA:435638
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Finger syndactyly, Tetralogy ... ORPHA:7
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Digeorge Syndrome
Interrupted aortic arch, High, narrow palate, Right aortic arch with mirror image branching, Recu... OMIM:188400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet rig... OMIM:618223
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... OMIM:136760
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Patent ductus arter... ORPHA:2712
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Open mouth, Mitral regurgitation, Ventricular septal defect, Arachnodactyly... OMIM:301039
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, O... ORPHA:3186
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ... ORPHA:210122
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... ORPHA:99094
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventr... ORPHA:251071
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hernia, Short philtrum, Talipes equinovarus, 2-3 ... ORPHA:3306
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Prune Belly Syndrome
Volvulus, Recurrent respiratory infections, Tetralogy of Fallot, Intestinal malrotation, Ventricu... ORPHA:2970
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Natal tooth, Clinodactyly, Large placenta, B... OMIM:249000
Holt-Oram Syndrome
Short forearm, Radial bowing, Cleft soft palate, Atrioventricular dissociation, Mitral regurgitat... OMIM:142900
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Reduced cerebral white matter volume, Congenital contracture, Long philtrum,... OMIM:620156
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Narrow mouth, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcepha... OMIM:614833
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Gingival overgrowth, Congenital diaphragmatic hernia, Abnormal intesti... ORPHA:1834
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricular septal defect, Orofacial... ORPHA:139466
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Chromosome 5Q12 Deletion Syndrome
Hypotension, Long philtrum, Patent foramen ovale, Ventricular septal defect, Long toe, Atrial sep... OMIM:615668
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Neoplasm of the heart, Omphalocele ORPHA:2241
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Agenesis of corpus callosum OMIM:614402
Holoprosencephaly 7
Unilateral cleft lip, Median cleft palate, Bilateral cleft palate, Median cleft upper lip, Bilate... OMIM:610828
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Talipes equinovarus, Ventricular septal defect OMIM:209770
Even-Plus Syndrome
Dysplasia of the femoral head, Agenesis of corpus callosum, Dysplastic corpus callosum, Hypodonti... OMIM:616854
Atelis Syndrome 1
Carious teeth, Long philtrum, Ventricular septal defect, Atrial septal defect, High palate, Bronc... OMIM:620184
Nephrotic Syndrome, Type 11
Cleft lip, Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricula... OMIM:616730
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Prominent fingertip pads, Long philtrum, Anteriorly placed anus, Abnormal he... OMIM:618494
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology... ORPHA:500159
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abnormal dental morpholo... OMIM:612582
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Periventricular Nodular Heterotopia 7
Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe syn... OMIM:617201
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Short distal phalanx of finger, Downturned corners of mouth, Long philtrum, Thi... OMIM:220500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Cleft palate, Recurrent respiratory infections, Ventricular septal defect OMIM:620210
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Genu ... OMIM:619472
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Sandal gap, In... OMIM:617602
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Skraban-Deardorff Syndrome
Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Right aortic arch, Ventricula... OMIM:617616
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... OMIM:615550
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... OMIM:115470
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Respiratory failure, Pulmo... ORPHA:36238
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Ventricular septal defect OMIM:616816
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ankyloglossia, Hamartom... OMIM:174300
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Agenesis of permanent teeth, Persistence of primary t... ORPHA:46627
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Umbilical hernia, Ventricular septal defect, Abnormality of the philtrum, Large hand... ORPHA:1770
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia, Genu valgum, Abnormal palate morphology ORPHA:1381
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Exa... OMIM:615879
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Intrauterine growth retardation, Death in childhood, Cryptorchidis... OMIM:214110
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
German Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Open mouth, Orofacial cleft, Everted lower lip verm... ORPHA:2077
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema ORPHA:449280