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Gene: Carm1 MGI:1913208

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

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
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... ORPHA:2038
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Upper limb phocome... ORPHA:294975
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr... OMIM:618254
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Intrauterine growth retardation, Truncus arteriosus, Smoo... OMIM:611867
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pu... ORPHA:199241
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia,... ORPHA:185
Pierre Robin Syndrome
Neonatal respiratory distress, Pierre-Robin sequence, Cor pulmonale, Upper airway obstruction, Cl... OMIM:261800
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Brachydactyly, Ventricular septal defect, Intestinal malrotation, Short... ORPHA:401935
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo... OMIM:613630
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum ORPHA:1906
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Schisis Association
Encephalocele, Omphalocele, Spina bifida, Microcephaly, Micromelia, Congenital diaphragmatic hern... ORPHA:63862
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Omphalocele
Omphalocele ORPHA:660
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Miller-Dieker Syndrome
Omphalocele, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the corpus callosum, Cli... ORPHA:531
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Tach... ORPHA:3426
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defec... OMIM:601927
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... OMIM:601357
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... OMIM:618316
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Cleft palate, Respiratory insufficiency, High palate, ... OMIM:615731
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal v... OMIM:616589
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... ORPHA:1335
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Truncus arteriosus, Ventricular septal defect,... OMIM:609029
Acalvaria
Omphalocele, Cleft palate, Postaxial hand polydactyly, Spina bifida ORPHA:945
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Mild malformation of cortical development, Dysplastic corpus callos... ORPHA:500166
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pseudodiastrophic Dysplasia
Talipes equinovarus, Omphalocele, Rhizomelia, Phalangeal dislocation ORPHA:85174
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... ORPHA:980
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Intrauter... ORPHA:1937
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement ... ORPHA:93267
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... OMIM:179613
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Ecchymosis, Emphyse... OMIM:130050
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Ventricular septal defect, Cam... ORPHA:2008
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonar... OMIM:601186
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, High palate, Cough... ORPHA:96170
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Clinodactyly, Cleft palate, ... OMIM:615583
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic l... OMIM:220210
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydramnios, Coxa va... OMIM:608149
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Microcephaly, Downturned corners of mouth, ... ORPHA:1707
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Addu... OMIM:617022
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... OMIM:249670
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... ORPHA:254534
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, High palate, Primary microcephaly, Clinodactyly of the 5th finger, Cl... OMIM:618010
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Isolated Anencephaly
Omphalocele, Intrauterine growth retardation, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth... OMIM:615415
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Chromosome 9P Deletion Syndrome
High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, Tapered finger, ... OMIM:158170
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... ORPHA:1388
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... OMIM:600001
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Flexion contracture, Talipes equinovarus, Hypoplasia of the corpus ca... OMIM:613162
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Cleft palate, Arthrogryposis multiplex congenita, Talipes equin... OMIM:616570
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Polyhydramnios, Congenital diaphragmatic hernia, Metaph... OMIM:263210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Omphalocele, Ventricular septal defect, Micromelia, Postaxial p... OMIM:617895
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... OMIM:613759
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbin... ORPHA:3304
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, P... ORPHA:1263
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... OMIM:201000
Triploidy
Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Me... ORPHA:3376
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... ORPHA:244
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Trigonocephaly 1
Omphalocele, Microcephaly, High, narrow palate, Long philtrum, Meckel diverticulum OMIM:190440
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... ORPHA:2515
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... ORPHA:2143
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, At... OMIM:306955
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Broad hallux, Abnormality ... OMIM:618529
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Deep philtr... ORPHA:261120
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Umbilical hernia, Omphalocele OMIM:275100
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb ORPHA:3434
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ... OMIM:619657
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Congenital diaphragmatic hernia, Abnormal aortic arch... ORPHA:2059
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... OMIM:265380
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, S... OMIM:145420
Tetralogy Of Fallot
Thin vermilion border, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy... ORPHA:3303
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Osteolys... ORPHA:371428
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... ORPHA:391646
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Mosaic Trisomy 1
Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmonary ... ORPHA:1692
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Multiple lipomas, Hand polydactyly, Sacral lipoma, Limb duplication OMIM:223200
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Constricting Bands, Congenital
Encephalocele, Syndactyly, Omphalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Ha... OMIM:217100
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... OMIM:620326
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... OMIM:617516
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent f... OMIM:269860
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San... ORPHA:477817
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Trisomy 1Q
Omphalocele, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Polyhydramnios, Camptodac... ORPHA:261344
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... OMIM:616894
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Respiratory insufficien... ORPHA:1166
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... ORPHA:251076
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... ORPHA:2209
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... ORPHA:261243
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Short thumb,... OMIM:612561
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect,... OMIM:243150
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete at... OMIM:264480
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:601163
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... ORPHA:1909
C Syndrome
Omphalocele, Short metacarpal, Toe syndactyly, Ventricular septal defect, Accessory oral frenulum... OMIM:211750
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Cerebral atrophy, Distal arthrogryposis, High palate, Talip... OMIM:618011
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Tetralogy of Fallot OMIM:615542
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Clinodac... OMIM:619717
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Cerebral calcification, Radial bowing, Intestinal malrotat... ORPHA:3035
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Omphalocel... ORPHA:2484
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate, Abnormal heart morphology OMIM:600252
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contr... OMIM:619110
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Finger syndactyly, Polyhydramnios, Congenital diaphragmatic... ORPHA:887
3Mc Syndrome 1
Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Dental crowding, Single inte... OMIM:257920
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morphology, Tetralogy ... ORPHA:1919
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ... ORPHA:2092
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Recurre... ORPHA:2745
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... ORPHA:3469
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... OMIM:618454
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Apnea, Polyhydramnios, Osteopathia striata, High palate, Atrial septal defect, C... OMIM:300373
Adducted Thumbs Syndrome
Cerebral dysmyelination, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft p... OMIM:201550
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic ro... OMIM:616652
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Microcephaly, ... OMIM:247200
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... ORPHA:94066
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
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
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis... OMIM:601005
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left a... ORPHA:75249
Fibrochondrogenesis 1
Short palm, Omphalocele, Rhizomelia, Dumbbell-shaped long bone, Narrow mouth, Small hand, Hydrops... OMIM:228520
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Wide mouth, Branchial anomaly, Intrauterine growth re... ORPHA:1296
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Neonatal respiratory distress, Inguinal hernia, Subvalvular aortic ste... OMIM:250951
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... OMIM:208530
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Encephal... ORPHA:90652
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Preaxial hand polydactyly, Talipes equinovarus, Prune belly, Anal atresia OMIM:601389
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short lingual frenulum, Anomalous origin of left coronary artery from the p... ORPHA:2326
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Thomas Syndrome
Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip ORPHA:3316
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Prominent fingertip pads, Toe syndactyly, Sandal gap, Pate... OMIM:609625
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Esophageal Atresia
Respiratory distress, Polyhydramnios, Bronchitis, Clinodactyly, Aspiration, Barrett esophagus, Cl... ORPHA:1199
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Pulmo... OMIM:618330
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Ventricular septal defect, Patent ductus arteriosus, Short toe, O... ORPHA:1519
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac sep... ORPHA:83473
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Tongue fasciculations, Microcephaly OMIM:618276
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Atrial s... ORPHA:567
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges, Clinodactyly of t... OMIM:314320
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... ORPHA:2847
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Grange Syndrome
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... ORPHA:79094
Microgastria-Limb Reduction Defect Syndrome
Abnormal lung lobation, Abnormal finger morphology, Atrial septal defect, Microgastria, Hiatus he... ORPHA:2538
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa... OMIM:300887
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double out... OMIM:618164
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebr... ORPHA:363705
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Broad secon... ORPHA:3369
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... OMIM:600987
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Spina bifida, Mitral valve prolapse, Talipes equinovarus, Long philtrum, Joint c... OMIM:211960
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Coxa valga, P... OMIM:301056
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Overlapping toe, Diastasis recti... ORPHA:254528
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Inguinal hernia, Right atrial enlargement, Esophageal varix, Pulmonary... OMIM:616028
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Caudal Duplication
Omphalocele, Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... OMIM:618761
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphra... ORPHA:3380
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Lissencephaly Due To Tuba1A Mutation
Agyria, Aganglionic megacolon, Microcephaly, Hypoplastic anterior limbs of the internal capsule, ... ORPHA:171680
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, A... ORPHA:2166
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... ORPHA:261190
Weaver-Williams Syndrome
Microcephaly, Cleft palate, Narrow mouth ORPHA:3448
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... OMIM:618506
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... ORPHA:228399
Burn-Mckeown Syndrome
Inguinal hernia, Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Th... OMIM:608572
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal ... ORPHA:79328
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, High, narrow palate, Narrow palate, Cleft palate, High... OMIM:615102
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Omphalocele, Rhizomelia, Hamartoma of tongue, Postaxial polydactyly, ... OMIM:616300
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Long philtrum, Atrial s... OMIM:619189
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth... OMIM:618974
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Micromelia, Abnormal lung lobation, Cleft maxillary alveola... ORPHA:508488
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica... ORPHA:555874
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Intrauterine gr... OMIM:609981
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Open mouth, Ventricular septal defect OMIM:616816
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Femoral-Facial Syndrome
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Toe syndactyly, Ventri... OMIM:134780
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Broad toe, Tented upper lip vermilion, Exaggerated cupid's bow, Dysplastic corpus callosum, Gingi... OMIM:616900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... OMIM:619769
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Proximal placement of thumb, Prominent fingertip pads... OMIM:229850
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Metaphyseal dysplasia, Ventricular se... OMIM:600373
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tented upper lip vermilion, Left atrial enlargement, Left ventricular noncompaction cardiomyopath... OMIM:619424
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Clinodactyly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, Pul... OMIM:280000
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Marshall-Smith Syndrome
Irregular dentition, Apnea, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Gl... OMIM:602535
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial polydacty... OMIM:614815
Holt-Oram Syndrome
Finger syndactyly, Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atriov... ORPHA:392
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Overlapping toe, Deep philtrum, Pate... ORPHA:163956
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Anteriorly placed anus, T... OMIM:618624
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar r... OMIM:612938
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Donnai-Barrow Syndrome
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Partial agenesis of the cor... OMIM:222448
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxi... OMIM:618142
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mo... ORPHA:398156
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Down Syndrome
Short palm, Atrial septal defect, Atrioventricular canal defect, Patent foramen ovale, Pulmonary ... OMIM:190685
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Inguinal hernia, Ventricular septal d... OMIM:618950
Developmental And Epileptic Encephalopathy 89
Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Cerebral atrophy, Talip... OMIM:619124
Filippi Syndrome
Ventricular septal defect, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin ve... OMIM:272440
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Short humerus, Omphalocele, Coxa val... OMIM:309350
Immunodeficiency 9
Death in infancy, Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Widely spaced teeth, High palate, Atrial septal defect, Microdontia, Promi... OMIM:612474
Iniencephaly
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Congenital diaphragmati... ORPHA:63259
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Patent ductus arte... OMIM:613870
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia, Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tr... OMIM:619602
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... ORPHA:90308
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Umbilical hernia, Mic... ORPHA:2241
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Downt... OMIM:618652
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Dislocation Of The Hip-Dysmorphism Syndrome
Inguinal hernia, Patent ductus arteriosus, Deviation of finger, Abnormal cardiac septum morpholog... ORPHA:2412
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... OMIM:301043
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Paroxysmal supraventricular tachycardia, Sandal gap, S... OMIM:617877
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Holoprosencephaly
Congenital diaphragmatic hernia, Deep philtrum, Encephalocele, Bilateral cleft lip, Respiratory i... ORPHA:2162
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... OMIM:618042
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Sl... OMIM:147800
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao... ORPHA:1596
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Pericardial effusion, Perianal abscess, Small hand, Wide mouth, Broad f... OMIM:614684
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Lymphedema... OMIM:239850
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Polyhydramnios, Congenital diaphragmatic hernia, High, narrow palate, Clinod... ORPHA:373
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... ORPHA:2257
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Sp... ORPHA:1926
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pierre-Robin sequence, Small hand... OMIM:619980
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... ORPHA:3405
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Bowing of the long bones, Ventricular septal defect, Secundum atrial se... OMIM:249420
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Pagod Syndrome
Encephalocele, Omphalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Congenita... ORPHA:991
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios ORPHA:3033
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H... OMIM:618494
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... ORPHA:1908
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... ORPHA:2970
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, In... ORPHA:210122
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dias... ORPHA:329224
Digeorge Syndrome
Inguinal hernia, Ventricular septal defect, Femoral hernia, High, narrow palate, Atelectasis, Chr... OMIM:188400
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... ORPHA:139466
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissencephaly, Narrow mouth, Polym... OMIM:614833
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Postaxial hand polydactyly, Ante... OMIM:136760
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left... ORPHA:57777
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus,... OMIM:249000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cl... ORPHA:3186
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... ORPHA:2712
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal int... OMIM:618223
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger, Micromelia, Cleft palate, Abnormal diaphysis morphology, Na... ORPHA:2021
Roifman Syndrome
Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe... OMIM:616651
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Tented upper lip vermilion, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simpli... OMIM:620001
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu... ORPHA:435638
Giant Cell Arteritis
Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Rec... ORPHA:397
German Syndrome
Camptodactyly of finger, Lymphedema, Orofacial cleft, Abnormal cardiac septum morphology, Everted... ORPHA:2077
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, 2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, ... ORPHA:3306
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... ORPHA:49827
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
3C Syndrome
Recurrent respiratory infections, Finger syndactyly, Inguinal hernia, Ventricular septal defect, ... ORPHA:7
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... OMIM:620184
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Tracheobronchomalacia, Recurrent pneumonia, Pat... ORPHA:500159
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... OMIM:300166
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Intrauterine growth retardation OMIM:610678
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Microcephaly, Partial... OMIM:610828
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Tetralogy of Fallot, Anal atresia, Genu valgum ORPHA:1381
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Bartsocas-Papas Syndrome 1
Flexion contracture, Short phalanx of finger, Patent foramen ovale, Inferiorly positioned umbilic... OMIM:263650
Nephrotic Syndrome, Type 11
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... OMIM:616730
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ... OMIM:614120
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste... ORPHA:3449
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... ORPHA:251071
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... OMIM:220500
Velocardiofacial Syndrome
Inguinal hernia, Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard pa... OMIM:192430
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Larg... ORPHA:1770
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Long fingers, Increased nuchal translucency, Patent ductus a... OMIM:615668
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Hydrolethalus Syndrome 1
Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atrioventricul... OMIM:236680
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Gingival overgrowth, Abn... ORPHA:1834
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... OMIM:300963
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect, Cleft palate, Coarctation of aorta OMIM:620210
Congenital Heart Defects And Skeletal Malformations Syndrome
Anal atresia, Ventricular septal defect, Dental crowding, Intestinal malrotation, Repeated pneumo... OMIM:617602
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Orofaciodigital Syndrome V
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Ventricular septal ... OMIM:174300
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Polydactyly, Hernia, Smooth philtrum OMIM:602501
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Arachnodactyly, Cleft palate, Narrow mouth ORPHA:93946
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contracture, Abnormal aortic a... ORPHA:96334
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios, Cardiomegaly, Decreased... OMIM:616897
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... OMIM:618067
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, High, narrow palate, Ileus, Cerebral atroph... OMIM:620156
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro... OMIM:169400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Cleft palate, Cleft upper lip OMIM:614402
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer... ORPHA:436252
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great a... OMIM:616789
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Char Syndrome
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly... ORPHA:46627
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... ORPHA:60025
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... OMIM:235510
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:609654
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Polyhydramnios, Proximal placement of thumb, Absent radius, Esophage... OMIM:314390
Even-Plus Syndrome
Dysplastic corpus callosum, Dysplasia of the femoral head, High palate, Hypodontia, Agenesis of c... OMIM:616854
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Aplasia/Hypoplasia of the abdomin... ORPHA:1425
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M... OMIM:611134
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... ORPHA:3378
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Acropectorovertebral Dysplasia
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... ORPHA:957
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Incr... OMIM:620183
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... OMIM:611812
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... ORPHA:2306
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites ORPHA:1667
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Arachnodactyly, Mitral regurgitation, Aortic root aneurysm, Short phil... OMIM:301039
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Wide mouth, High palate, Clinodactyly of the 5th f... OMIM:613398
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615279
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Cleft palate, Poly... OMIM:613885
Transaldolase Deficiency
Ventricular septal defect, Deep philtrum, Asthma, Patent ductus arteriosus, Telangiectasia, Wide ... OMIM:606003
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Rocker bottom ... OMIM:612582
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... ORPHA:2729
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ... OMIM:604320
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... ORPHA:261272
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a... ORPHA:2184
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Clinodactyly, Abnormal heart morphology, Downturned corner... ORPHA:369891
Holoprosencephaly 11
Cleft lip, Agenesis of corpus callosum, Cleft palate, Microcephaly OMIM:614226
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Chromosome 18Q Deletion Syndrome
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, B... OMIM:601808
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Death in childhood, Intrauterine growth retardation, Jo... OMIM:214110
Myoectodermal Gonadal Dysgenesis Syndrome
Smooth philtrum, Short palm, Omphalocele, Diastasis recti, Bifid distal phalanx of the thumb, Pyl... OMIM:618419
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... ORPHA:96167
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Everted lower l... ORPHA:75389
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect, Exaggerated cupi... OMIM:615879
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth re... ORPHA:290
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... OMIM:617926
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, A... ORPHA:93929
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... OMIM:617450
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Brachydactyly, Ventricular septal defect, Bicuspid aortic valve, Polyhy... OMIM:618027
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Micromelia ORPHA:2772
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... ORPHA:1923
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusion, Carious teeth, Multiple... OMIM:620070
Galloway-Mowat Syndrome 7
Hallux valgus, Ventricular septal defect, Arachnodactyly, Edema, Cleft lip, Partial duplication o... OMIM:618348
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Recurrent pneumonia, 2-3 ... OMIM:616449
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Ventricular septal defect, Sandal ... OMIM:270450
Woods Syndrome
3-4 finger cutaneous syndactyly, Thin vermilion border, Ventricular septal defect OMIM:615236
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... ORPHA:284169
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Knee flexion contracture, High palate, Atrial septal defect, Wrist flexion... OMIM:121050
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezi... OMIM:620233
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Narrow mouth OMIM:245552
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Tracheobronchomalacia, Recurrent pneumonia, Pat... OMIM:617751
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect, Short m... OMIM:304120
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure, Ar... OMIM:607598
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Abnormality of the dentition, Dysplastic corpus callosum, Clinodactyly, Ol... ORPHA:557003
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Congenital diaph... ORPHA:1488
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Monkey wrench ... OMIM:618870
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Cong... OMIM:612530
C Syndrome
Omphalocele, Toe syndactyly, Accessory oral frenulum, Microcephaly, Micromelia, Congenital diaphr... ORPHA:1308
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Short thumb, Patent duc... OMIM:612562
Loeys-Dietz Syndrome 4
Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagu... OMIM:614816
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Pai Syndrome
Encephalocele, Median cleft lip, Midline central nervous system lipomas, Cleft palate, Aplasia/Hy... ORPHA:1993
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocy... OMIM:612541
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Tapered finger, Flexion con... OMIM:617452
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Microdontia, Agenesis of corpus callosum OMIM:619955
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Inguinal hernia, High palate, Cleft palate ORPHA:1135
Tarp Syndrome
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdura... OMIM:311900
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... OMIM:614294
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Thin vermilion border, Secondary microcephaly, Periventricular white ... OMIM:619737
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, ... OMIM:244300
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, High palate, Bilateral coxa valga, Atrial septal defect, Patent foram... OMIM:615582
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se... ORPHA:505237
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Lymphedema,... OMIM:235255
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglo... OMIM:202650
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Cleft ... OMIM:153400
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Patent du... ORPHA:2473
19P13.3 Microduplication Syndrome
Ventricular septal defect, Long fingers, Cleft palate, Pulmonary arterial hypertension, Thick ver... ORPHA:447980
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Porencephali... OMIM:258860
Multiple Pterygium Syndrome, X-Linked
Edema, Cleft upper lip, Polyhydramnios, Flexion contracture, Cleft palate, Hypoplastic heart, Pul... OMIM:312150
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Congenital diaphragm... OMIM:616777
Distal Deletion 19P
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Short... ORPHA:96129
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Intrauterine growth retardation ORPHA:1194
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... OMIM:620113
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Wide mouth, Ca... OMIM:604273
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Intellectual Developmental Disorder, Autosomal Recessive 71
Prune belly, Ventricular septal defect, Increased overbite OMIM:618504
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Charge Syndrome
Polyhydramnios, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ... OMIM:214800
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Increased nuchal translucency, Wide mouth, Intrauterine growth retarda... OMIM:617635
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Opitz Gbbb Syndrome
Anal atresia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper l... OMIM:300000
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... OMIM:602418
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect,... ORPHA:254346
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Respiratory failure requiring assisted ventilation, Inguinal hernia, Di... ORPHA:254519
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... ORPHA:1507
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart fa... ORPHA:2331
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Neonatal respiratory distress, Ventricular septal defect, Intestinal ma... ORPHA:457193
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Cleft palate, Atrial septal defect, Clinodactyly, Paten... OMIM:614261
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... OMIM:618280
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsal, Anteriorly placed anus, O... OMIM:305600
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Catel-Manzke Syndrome
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacarpal, Overrid... OMIM:616145
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short... ORPHA:436003
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Tracheobronchomalacia, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick v... OMIM:619184
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, High palate, Bif... OMIM:208050
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, High, narrow palate, Short philtrum, Atrial septal defect, Finger syn... ORPHA:464738
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Sp... OMIM:600460
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... ORPHA:97214
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coa... ORPHA:96147
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Proximal placement of ... OMIM:618619
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyly, Clinodactyl... OMIM:619123
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Sandal gap, Tapered finger,... OMIM:617061
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Thin upper lip vermilion, Inguinal hernia, Dilation of Virchow-Robin spaces, Ventricular septal d... OMIM:300998
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... OMIM:616920
Ogden Syndrome
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad hallux, High, narr... ORPHA:276432
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal defect, Den... OMIM:309520
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... ORPHA:2255
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Apnea, Fetal ascites, Ascending aorta h... OMIM:619503
Mosaic Trisomy 16
Syndactyly, Single coronary artery origin, Ventricular septal defect, Large placenta, Abnormal lu... ORPHA:1708
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Doors Syndrome
Respiratory distress, Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downtur... ORPHA:79500
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small i... OMIM:200995
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic cor... OMIM:618820
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... ORPHA:158687
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Inguinal hernia, Dysplastic corpus callosum, Secondary microcephaly, Long ... ORPHA:357058
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Polyhydramnios, Micr... OMIM:617360
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Atrial septal defect, ... ORPHA:289
Classical-Like Ehlers-Danlos Syndrome Type 2
Widened atrophic scar, Equinus calcaneus, Prominent veins on trunk, High palate, Periodontitis, P... ORPHA:536532
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned... ORPHA:1780
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Rhizomelia, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... OMIM:617164
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... ORPHA:2256
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Heart murmur, Widely spaced te... ORPHA:2728
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Vascular ring, Knee flexion contracture, Mitral... OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Dysplastic corpus callosum OMIM:620135
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Gm1 Gangliosidosis
Hydrops fetalis, Aspiration pneumonia, Cherry red spot of the macula, Patent ductus arteriosus, G... ORPHA:354
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Meni... OMIM:614424
Bohring-Opitz Syndrome
Bilateral cleft palate, Neonatal respiratory distress, Syndactyly, Ventricular septal defect, Int... OMIM:605039
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydac... ORPHA:2519
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Esophageal atresia,... OMIM:610536
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,... OMIM:613680
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Intestina... ORPHA:99776
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,... OMIM:100300
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... ORPHA:3342
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... ORPHA:70591
Hydrolethalus
Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, An... ORPHA:2189
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Ventricular septal defect, Episodic tac... ORPHA:26793
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Thin lo... ORPHA:363444
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung mo... ORPHA:141127
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Tet... ORPHA:2328
Alg1-Cdg
Respiratory failure ORPHA:79327
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus... OMIM:614576
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... ORPHA:261236
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Dyspn... OMIM:123700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Immunodeficiency 44
Lymphopenia OMIM:616636
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Distal Duplication 5Q
Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Absent thumb, Car... ORPHA:96097
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Coarctation of aorta, Anteri... OMIM:617159
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Patent ductus... OMIM:130720
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... OMIM:608670
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Non-midline cleft lip, Postaxial hand polydactyly, Cleft palate,... ORPHA:2075
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea, Dilated card... OMIM:614921
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proxi... OMIM:610759
2Q31.1 Microdeletion Syndrome
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... ORPHA:251014
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Brachydactyly, Ventricular septal defect, Inguinal hernia, Metap... ORPHA:166035
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus,... ORPHA:96191
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Patent ductu... OMIM:106260
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Knee flexion contracture, Anteriorly placed anus, Cutane... OMIM:151050
Exstrophy-Epispadias Complex
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Cystocele, Abnormality of the abdomina... ORPHA:322
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... OMIM:616564
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ... ORPHA:3071
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Inguinal hernia, Adrenal... OMIM:613177
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Dental crowding, Left atrial enlargement, Lipoatrophy, Dyspnea, Flex... OMIM:614008
Filippi Syndrome
Finger syndactyly, Ventricular septal defect, Thin vermilion border, Short philtrum, Clinodactyly... ORPHA:3255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Ab... ORPHA:453499
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Limb undergrowth, ... ORPHA:79243
Kleefstra Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Ventricu... ORPHA:261494
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Noonan Syndrome 4
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Dental malocclusion, Wide mouth, Th... OMIM:610733
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Abnormality of the dentition, Deep philtru... ORPHA:251038
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Gingival o... OMIM:619179
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Metatarsu... OMIM:272950
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... OMIM:208900
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, S... ORPHA:2751
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ... OMIM:615630
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Ventricular septa... ORPHA:2962
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Postaxial hand polydactyly, Recurrent upper ... OMIM:308205
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Pleural ef... ORPHA:36412
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr... OMIM:605275
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Finger syndactyly, Toe syndactyly, Ventricular septal defect, W... ORPHA:217346
Pallister-Killian Syndrome
Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic... OMIM:601803
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Omphalocele OMIM:248450
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Robinow Syndrome
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Syndactyly, Pers... ORPHA:97360
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Rhizomelia, Narrow mouth, Abnormal lung lobation... OMIM:614114
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Pancreatic ... ORPHA:1655
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Cardiomegaly, Congenital diaphragm... ORPHA:116
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Sub... ORPHA:457279
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Talipes equinovarus, Arthrogryposis multip... OMIM:614961
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Abnormal dental morphology, Ventricular septal defec... ORPHA:1458
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
King-Denborough Syndrome
High palate, Deep philtrum, Ventricular septal defect OMIM:619542
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Spina bifida, Tracheomalacia, Myelomeni... ORPHA:1393
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th finger, Micr... ORPHA:251028
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformity, Recurrent upper respirat... ORPHA:3078
Koolen-De Vries Syndrome
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Pylo... OMIM:610443
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Neonatal respiratory distress, Ventricular septal defect, Cleft sof... OMIM:117650
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:52055
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Ventricular septal defect, Tarsal synostosis, Elbow contracture... OMIM:178110
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Myhre Syndrome
Short palm, Inguinal hernia, Femoral hernia, Submucous cleft hard palate, Gingival cleft, Cleft p... ORPHA:2588
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Protruding tongue, Persistence of primary teeth, T... OMIM:610253
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... ORPHA:2524
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti, Cardiomegaly, Macroglossia, Cardiomyopathy OMIM:130650
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary colla... OMIM:620025
Neu-Laxova Syndrome 1
Polyhydramnios, Swollen lip, Micromelia, Calcaneovalgus deformity, Neonatal death, Patent foramen... OMIM:256520
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Absent thumb, Esophageal atresia, Patent ductus arteriosus, Abnormal l... OMIM:300514
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Syndromic Diarrhea
Inguinal hernia, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thromboc... ORPHA:84064
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Dental crowding, High, narrow palate, Meningocele, Hi... ORPHA:2789
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Fraser Syndrome
Encephalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Omphalocele, Cl... ORPHA:2052
Developmental And Epileptic Encephalopathy 49
Tented upper lip vermilion, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dy... OMIM:617281
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... ORPHA:1782
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Chops Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Anomalous pulmonary ven... OMIM:616368
Faciocardiorenal Syndrome
Cleft palate, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, Narrow mouth, Smo... ORPHA:1973
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect,... OMIM:208085
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... ORPHA:3138
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... ORPHA:488627
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Inguinal hernia, Tapered toe, Tapered finger, Celiac disease, Dysplastic corpus callosum, Periven... ORPHA:544488
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Ablepharon Macrostomia Syndrome
Omphalocele, Toe syndactyly, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdon... ORPHA:920
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect, Malabsorption ORPHA:452
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... OMIM:602782
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Tapered finger, High, narro... OMIM:619312
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydr... OMIM:267010
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Small hand, Cleft ... OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal d... ORPHA:163979
Chime Syndrome
Short palm, Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, ... ORPHA:3474
Cohen Syndrome
Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abno... ORPHA:193
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus... OMIM:117550
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Syndactyly, Microcephaly, Dysplastic corpus callosum, Anterio... ORPHA:314679
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Hypertension, Shor... ORPHA:52
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coa... ORPHA:3338
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Tricusp... OMIM:263520
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent ... OMIM:300472
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent for... OMIM:617506
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Cornelia De Lange Syndrome 1
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Do... OMIM:122470
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Taper... ORPHA:96201
Tarp Syndrome
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Pierre-Robin sequence, Alveo... ORPHA:2886
Spondylo-Ocular Syndrome
Thin vermilion border, Ventricular septal defect, Long philtrum ORPHA:85194
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, ... OMIM:608328
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... OMIM:609053
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... ORPHA:2710
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Cleft palate, Hypoplasia of the corpus callosum,... OMIM:614924
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Wide mouth, Mitra... ORPHA:261250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Patent ductus art... ORPHA:1465
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa... OMIM:613001
Pallister-Hall Syndrome
Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Synda... OMIM:146510
Aneurysm-Osteoarthritis Syndrome
High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ... ORPHA:284984
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Deep philt... OMIM:300855
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Clinodactyly of the 5t... OMIM:274000
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In... OMIM:610505
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Foot oligodactyly, Triphalangea... OMIM:154400
Gaucher Disease Type 1
Pericardial effusion, Abnormal pulmonary interstitial morphology, Pedal edema, Pulmonary arterial... ORPHA:77259
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Diastema, Tapered finger, Clinodactyly, Thick lower... OMIM:301040
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval... OMIM:614947
Myhre Syndrome
Short philtrum, Atrial septal defect, Pericardial effusion, Cleft lip, Patent ductus arteriosus, ... OMIM:139210
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Heart block,... OMIM:617063
Oeis Complex
Omphalocele, Intestinal malrotation, Myelomeningocele, Anteriorly placed anus, Rectovaginal fistu... OMIM:258040
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd toe, Microcephaly, Dysplastic corpus callosum, Tapered finger, Short thumb, Split hand,... OMIM:618569
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Congenital ... OMIM:618846
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Tracheoesophageal fi... ORPHA:268249
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal humerus morphology, Pericardial effus... ORPHA:464329
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short uppe... OMIM:200110
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Omphalocele Syndrome, Shprintzen-Goldberg Type
Downturned corners of mouth, Thin upper lip vermilion, Omphalocele, Anal atresia ORPHA:3164
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Omphalocele, Micromelia, Cleft upper lip, Esophageal atresia, Preaxial hand polydacty... ORPHA:93271
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... OMIM:613458
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Postaxial polydactyly, Ventricular septal defect, Polyhydramnios OMIM:219730
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Polyhydramnios, Micromelia, Postaxial polydactyly, ... OMIM:616546
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, High ... OMIM:609942
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Tooth malposition, Narrow palate, Mitral reg... OMIM:277600
Hennekam Syndrome
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Finger syndactyly, ... ORPHA:2136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Respiratory insu... OMIM:253800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... OMIM:301044
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure OMIM:620327
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Absent se... ORPHA:2273
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Macrodontia, Proximal placement of thumb, Protruding tongue, Diastema,... OMIM:212066
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... OMIM:609192
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Overlapping toe, Deep philt... OMIM:613884
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph... OMIM:620073
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Tapered humerus, Tracheomalacia, Cleft upper lip, Sp... OMIM:150250
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Mesomelia, Hi... OMIM:613457
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental c... OMIM:300967
Boutonneuse Fever
Respiratory failure ORPHA:83313
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myo... ORPHA:292
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Pulmonary valve atresia... OMIM:301030
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Dental crowding, Abnormality of t... ORPHA:769
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Neonatal respiratory distress, Ventricular septal defect, Intestinal ma... OMIM:244450
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lung lobat... ORPHA:818
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Ventricular septal defect, Dental crowding, Patent ductu... ORPHA:79329
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Tapered finger, Dental malocc... ORPHA:444072
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Sandal gap, Carious te... OMIM:619229
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... ORPHA:352665
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect OMIM:616901
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... ORPHA:3472
Hajdu-Cheney Syndrome
Downturned corners of mouth, Periodontitis, Hernia, Partial absence of toe, Open bite, Patent duc... ORPHA:955
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... OMIM:606232
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Polyhydramnios, Postaxial polydactyly, Preaxial polydactyl... OMIM:615503
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... ORPHA:2438
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Flexion contracture, Tibial bowing, High palate, Widely spaced teeth, Microdontia, Short phalanx ... OMIM:143095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Tbck-Related Intellectual Disability Syndrome
Broad toe, Tented upper lip vermilion, Ventricular septal defect, Diastasis recti, High, narrow p... ORPHA:488632
Hardikar Syndrome
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac... OMIM:301068
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnor... ORPHA:500095
Apert Syndrome
Cutaneous finger syndactyly, Broad distal phalanx of the thumb, Bifid uvula, Synostosis of carpal... OMIM:101200
Duane-Radial Ray Syndrome
Syndactyly, Anal stenosis, Hypoplasia of the ulna, Ventricular septal defect, Aganglionic megacol... OMIM:607323
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Jacobsen Syndrome
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Spina bifida, Shor... ORPHA:2308
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect OMIM:615673
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Polyhydramnios, Esophageal atresi... OMIM:164280
Renal Agenesis
Ventricular septal defect, Hypertension, Pulmonary hypoplasia, Talipes equinovarus, Anal atresia,... ORPHA:411709
Hajdu-Cheney Syndrome
Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Den... OMIM:102500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula ORPHA:77298
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Respiratory fa... ORPHA:125
Cerebellofaciodental Syndrome
Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Dental crowding, Polyhydramnios, Overlapping toe, Short foot, Patent d... OMIM:618268
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu... ORPHA:2969
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased... OMIM:609460
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Ventricular septal defect, Tra... ORPHA:96121
Zellweger Syndrome
Ventricular septal defect, Malabsorption, Pyloric stenosis, Abnormality of the tongue, Respirator... ORPHA:912
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, ... OMIM:180849
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Situs inversus ... ORPHA:2461
Zttk Syndrome
Abnormality of the dentition, Dysplastic corpus callosum, Submucous cleft hard palate, Small hand... OMIM:617140
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Shprintzen Omphalocele Syndrome
Omphalocele, Thin vermilion border, Anal atresia OMIM:182210
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia ... ORPHA:861
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... OMIM:271640
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Narrow philtrum, P... OMIM:619268
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Ulnar deviation of the hand, Ventricular septal defect, Rocker bot... OMIM:214100
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Short palm, Atrial septa... OMIM:312870
Omodysplasia 1
Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Pulmonary arter... OMIM:258315
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Thin upper lip vermilion, Inguinal hernia, Toe syndactyly, Ventricular septal defect, Polyhydramn... ORPHA:459070
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Toe synda... ORPHA:261337
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolaps... OMIM:617107
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Ventricular septal defect, Polyhydramnios, Avascular necro... OMIM:222470
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... ORPHA:3047
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Narrow mouth OMIM:618810
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
Eec Syndrome
Anterior hypopituitarism, Abnormal dental enamel morphology, Hypoplasia of the thymus, Decreased ... ORPHA:1896
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Flexion contracture... OMIM:619306
Carpenter Syndrome 2
High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ... OMIM:614976
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Broad hallux, Supernumerary tooth, ... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Patent foramen oval... ORPHA:444077
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Arboleda-Tham Syndrome
Respiratory distress, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum,... OMIM:616268
Noonan Syndrome 1
Abnormal bleeding, Ventricular septal defect, Lymphedema, High, narrow palate, Patent ductus arte... OMIM:163950
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Clinodactyly of the 5t... ORPHA:466791
Leigh Syndrome
Intrauterine growth retardation, Respiratory failure, Abnormal pattern of respiration ORPHA:506
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Absent thumb, Congestive heart fa... OMIM:105650
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Metaphyseal ch... OMIM:250410
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Mosaic Trisomy 20
Ventricular septal defect, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Abnormal mitral v... ORPHA:1724
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Polyhydramnios, High palate, Pu... OMIM:607721
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Congenital contracture OMIM:619036
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Metata... OMIM:614866
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Aspira... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Aspira... ORPHA:353277
Renpenning Syndrome 1
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Cleft p... OMIM:309500
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pe... ORPHA:77261
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Thin vermilion border, High pa... OMIM:619869
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Short hallux, Prematu... OMIM:245150
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Wide mouth, Duodenal... OMIM:617798
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Degcags Syndrome
Polyhydramnios, High palate, Atrial septal defect, Intrauterine growth retardation, Patent forame... OMIM:619488
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Cryptorchidism, Flexion contracture, Absence of... OMIM:264090
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... OMIM:618183
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Flexion contracture, Preaxial polydactyly, Femoral bowing, Knee flexion contracture, ... OMIM:210710
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Flexion contractur... OMIM:147791
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Flexion contracture, Reticulocytopenia, Anemia, Bone mar... OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongu... OMIM:615948
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Polyhydramnios, Tracheomalaci... OMIM:218040
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Furrowed tongue, High... OMIM:616975
Witteveen-Kolk Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Cortical dyspl... OMIM:613406
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Dextrocardia, Polyhydramnios, Camptodactyly of finger, ... ORPHA:1662
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Recur... ORPHA:33364
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Esop... OMIM:192350
Pallister-Hall Syndrome
Abnormal lung lobation, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxi... ORPHA:672
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Cough, Dyspnea, Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary int... OMIM:181000
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Abnormal cerebral ... ORPHA:904
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, A... ORPHA:124
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, S... OMIM:619575
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Tapered finger, Ankle flexion co... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hallux valgus, Toe syndactyly, Ventricular septal defect, Arachnodactyly, M... ORPHA:464306
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of tongue, Deviation ... ORPHA:434179
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... OMIM:157800
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal ... OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Hallux valgus, Inguinal hernia, Ventricular septal defect, Abnormal pulmona... ORPHA:268261
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitra... ORPHA:363700
Peters-Plus Syndrome
Short lingual frenulum, Polyhydramnios, Proximal placement of thumb, Short metatarsal, Anteriorly... OMIM:261540
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... ORPHA:513456
Penile Agenesis
Ventricular septal defect, Cloacal abnormality, Rectal fistula, Tracheoesophageal fistula, Bilate... ORPHA:49
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... ORPHA:51608
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Ear-Patella-Short Stature Syndrome
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:2554
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, Orofacial cleft, High palate, Atrial septal defect... OMIM:607872
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Microdontia, Atrial septal defect, C... OMIM:194050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Periventricular leukomalacia, Arachnodactyly, Absent thumb, Dysplastic corpus callosum, Simplifie... ORPHA:500150
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... OMIM:107480
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Monosomy 22
Contractures of the large joints, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatospl... ORPHA:96123
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicu... ORPHA:363958
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate, Broad finger, Short finger, Umbilical hernia, Broad phal... ORPHA:1934
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Downturned corners of m... ORPHA:199
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Thick lower lip vermilion, Diaphyseal dysplasia... OMIM:619727
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Pseudoepiphyses of the metacarpals, Short hallux, Cleft upper lip, Met... OMIM:194190
Tuberous Sclerosis Complex
Respiratory tract infection, Respiratory failure, Respiratory distress, Pulmonary lymphangiomyoma... ORPHA:805
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy... ORPHA:731
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Dysplastic corpus callosum, Anteriorly plac... OMIM:619426
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... OMIM:235730
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste... OMIM:118450
Abetalipoproteinemia
Respiratory failure ORPHA:14
Kabuki Syndrome 1
Prominent fingertip pads, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnor... OMIM:147920
Liver Disease, Severe Congenital
Chronic gastritis, Inguinal hernia, Pulmonary edema, Ventricular septal defect, Left atrial enlar... OMIM:619991
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Knee flexion contracture, High palate, Atrial septal defect, Wrist flexion contra... OMIM:268300
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Congenital Disorder Of Glycosylation, Type Iiw
Inguinal hernia, Ventricular septal defect, Supernumerary tooth, Prolonged prothrombin time, Blee... OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Long fingers, ... OMIM:620330
Yunis-Varon Syndrome
Polyhydramnios, Short metatarsal, Hydrops fetalis, Short philtrum, High palate, Aspiration pneumo... OMIM:216340
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breat... ORPHA:438213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Thick vermilion border, ... OMIM:619475
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Multiple pulmonary cysts, Ventricular septal defect OMIM:619418
Steinert Myotonic Dystrophy
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... ORPHA:273
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Ventricular septal defect, Polyhydramn... OMIM:606170
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Severe intrauterine growth retardation, ... ORPHA:3404
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Ventricular septal defect, Tapered finger, Carious teeth, Short thumb, Patent ductus a... OMIM:619522
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Clinodactyly of the 5th finger, Hypoplasia o... OMIM:243800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261552
Sotos Syndrome
No permanent dentition, Flexion contracture, Pedal edema, Atrial septal defect, Patent ductus art... ORPHA:821
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:2636
Microphthalmia, Syndromic 3
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Proboscis Lateralis
Ventricular septal defect, Agenesis of canine, Patent ductus arteriosus, Orofacial cleft, High pa... ORPHA:141099
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Pa... OMIM:164210
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Ventricular septal defect, Tibial bowing OMIM:259770
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Neoplasm of the thymu... ORPHA:744

Histopathology

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

There is no histopathology data for Carm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Carm1.

No publications found that use IMPC mice or data for Carm1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Carm1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Carm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Carm1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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