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Gene: Sos1 MGI:98354

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SOS Ras/Rac guanine nucleotide exchange factor 1
Synonyms:
4430401P03Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sos1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sos1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Large for gestational age, Hypertelorism, Dental maloc... OMIM:610733
Noonan Syndrome
Hepatomegaly, Abnormal pulmonary valve morphology, Lymphedema, Hypertelorism, Abnormality of the ... ORPHA:648
Hereditary Gingival Fibromatosis
Gingival fibromatosis, Gingival overgrowth ORPHA:2024
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300

The table below shows human diseases predicted to be associated to Sos1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
7P22.1 Microduplication Syndrome
Hypertelorism, Macrocephaly, Abnormal heart morphology ORPHA:314034
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Spinal muscular atrophy, Hypertelorism, Secundum atrial septal defect, Congest... OMIM:616866
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Secondary microcephaly, Microcephaly OMIM:615599
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Micrognathia, Mitral valve prolapse, Pu... ORPHA:228410
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Microcephaly, Pericardial effusion, Hypertelorism, Hepatosplenomegaly, Ascit... OMIM:608776
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Noonan Syndrome 8
Relative macrocephaly, Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for ge... OMIM:615355
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Hypertelorism, Secundum atrial septal defect, Pulmonic stenosis, Macroce... OMIM:614300
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Hypertelorism, Hypoplasia of the maxilla, A... OMIM:614261
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypertelorism, Micrognathia, Double outlet right ventricle, Hypoplasti... OMIM:220210
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Small for gestational age, Microcephaly, Secundum atrial septal defect, Micrognathia, Deeply set ... OMIM:620194
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Enamel hypoplasia ORPHA:2871
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... OMIM:230800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Ascites, Pleural effusion, Bradyca... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased ... ORPHA:86812
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Limb ... OMIM:619909
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Myofibrillar Myopathy 10
Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltag... OMIM:619040
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Mandibular prognathia OMIM:607016
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis,... ORPHA:292
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Emanuel Syndrome
Broad jaw, Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic h... OMIM:609029
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Microcephaly, Secundum atrial septal defect, Deeply set eye, Perimembr... OMIM:600987
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Small for gestational age, Microcephaly, Micrognathia, Oligohydramnios... OMIM:208085
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Microcephaly, Secundum atrial septal defect, Bradycardia, Pleu... OMIM:617397
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Patent ductus arteriosus, Aortic valve stenosis, Macrocephaly OMIM:220220
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Microcephaly, Hypertelorism, Splenomegaly, Micrognathia,... OMIM:608540
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hyperplasia of the maxilla, Hypopla... ORPHA:231226
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Microcephaly, Secundum atrial septal defect, Deeply set eye, Pulmonic st... OMIM:615802
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Microcepha... OMIM:619487
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart fa... ORPHA:324410
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hyperplasia of the maxilla, Hepatomegaly, Anemia ... ORPHA:231214
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Monosomy 18Q
Mandibular prognathia, Left-to-right shunt, Absence of the pulmonary valve, Microcephaly, Secundu... ORPHA:1600
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Microcephaly, Decreased body weight OMIM:618665
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertelorism, Secundum atrial septal defect, Microcephaly, Hypertension, Retrognathia OMIM:619758
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Microcephaly, Hypertelorism, Patent ductus arteriosus, Retrognathia, Aorti... OMIM:243310
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Hypertension, Left ventricular hypertrophy, Oligo... OMIM:616733
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Patent duct... OMIM:239850
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Weig... ORPHA:3208
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Hypertelorism, Micrognathia, Macroce... ORPHA:7
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to th... OMIM:618228
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Hypertelorism, Secondary microcephaly, Type 1 muscle fiber predominance, Primary ... OMIM:612949
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Polyhydramnios, Microcephaly, Lymphedema... OMIM:613563
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... OMIM:267010
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Polyhydramnios ORPHA:96190
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Retrognathia, Skeletal muscle hyp... OMIM:300280
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Hypertelorism, Micrognathia, Camptodactyly, Atrial septal defect, Aortic v... ORPHA:459061
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Flexion contracture, Thin skin, Pulmonic stenosis, Macrocephaly, Aortic ... ORPHA:75496
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur, Biparietal narrowing OMIM:123100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Microcephaly, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscu... OMIM:613156
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal hemidiaphragm morphology, Microcephaly, Secundum atrial septal defect, Mic... ORPHA:2257
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Failure to thrive, Primary microcephaly OMIM:620145
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Truncus arteriosus, Ventricula... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hepatomegaly, Micrognathia, Secundum atrial septal defect, Congestive he... OMIM:608779
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Agnathia-Otocephaly Complex
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Mandibular a... OMIM:202650
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Secondary microcephaly, Bradycardia, Decreased level of coenzyme Q1... OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Combined Oxidative Phosphorylation Deficiency 31
Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... OMIM:617228
Diamond-Blackfan Anemia 21
Aortic regurgitation, Hypertelorism, Secundum atrial septal defect, Microcephaly, Micrognathia, O... OMIM:620072
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Failure to thrive, Secondary microcephaly OMIM:620242
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypertelorism, Micrognathia, Atrial septal de... ORPHA:1388
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Vacuolated lymphocytes, Bradycardia ORPHA:228346
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Ly... ORPHA:36412
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy, Microcephaly OMIM:619121
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... OMIM:205400
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Micrognathia, Arthrogryposis multiplex congenita, Nema... OMIM:615731
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricular ... OMIM:620070
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Failure to thrive, Microcephaly, Hypertelorism, Obesity, Conotruncal defect... ORPHA:96147
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... OMIM:615418
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T... ORPHA:781
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... ORPHA:464329
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight lo... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive OMIM:616974
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Perianal abscess, Hypertelorism OMIM:614684
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Microcephaly, Arthrogryposis multiplex congenita, Failur... OMIM:613404
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ven... ORPHA:2306
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Trisomy 17P
Skeletal muscle atrophy, Microcephaly, Hypertelorism, Micrognathia, Patent ductus arteriosus, Fle... ORPHA:261290
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Absence of the pulmonary valve, Ventricular septal defect, Failure to thri... OMIM:601808
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Congenital Fibrinogen Deficiency
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula... ORPHA:335
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Raynaud phenomenon, Pericardial effusion, Lymphadenopathy, Leukopenia, Ascites, ... ORPHA:93552
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Increased nuchal translucency, Primary microcephaly OMIM:620183
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hypertelorism, Mitral regurgitation, Abnormal cardiac septum morpholog... ORPHA:83473
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Microcephaly ORPHA:254351
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
White Forelock With Malformations
Atrial septal defect, Hypertelorism OMIM:277740
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Camptodactyly... OMIM:614815
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Microcephaly OMIM:614458
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... OMIM:619167
Lowry-Maclean Syndrome
Delayed eruption of teeth, Diaphragmatic eventration, Cleft palate, Abnormal heart morphology, In... OMIM:600252
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral stenosis OMIM:617660
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy, Hypertension, Peripheral edema, Reduced hematocrit, Pleura... ORPHA:79126
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:618109
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Micrognathia, Camptodactyly of finger, Hypertelorism OMIM:619951
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Micrognathia, Deeply set eye, Atri... OMIM:265380
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Microcephaly OMIM:614249
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Hyperte... OMIM:612561
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Webbed neck, Small for gestational age, Microcephaly ORPHA:1439
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Micrognathia, Secundum atrial septal ... ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Pericardia... OMIM:615846
Noonan Syndrome 11
Relative macrocephaly, Hypertelorism, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardi... OMIM:618499
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Hydro... OMIM:269920
Noonan Syndrome 10
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Hypertelorism, Patent ductus a... OMIM:616564
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Congenital diaphragmatic hernia, Hypertelorism, Mi... OMIM:208050
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... OMIM:193400
Poems Syndrome
Thrombocytosis, Edema, Pericardial effusion, Lymphadenopathy, Weight loss, Pulmonary arterial hyp... ORPHA:2905
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Microcephaly, Micrognathi... OMIM:259720
8P23.1 Duplication Syndrome
Ventricular septal defect, Hypertelorism, Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot ORPHA:251076
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Micrognathia, Ven... OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Vici Syndrome
Atrial septal defect, Failure to thrive, Left ventricular hypertrophy, Microcephaly, Hyperteloris... OMIM:242840
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Failure to thrive, ... ORPHA:79312
Alkuraya-Kucinskas Syndrome
Edema, Hypertelorism, Pericardial effusion, Micrognathia, Hypotelorism, Webbed neck, Macrocephaly... OMIM:617822
Frank-Ter Haar Syndrome
Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Micrognathia, Wide anter... OMIM:249420
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Microcephaly OMIM:613885
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... OMIM:619698
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy ORPHA:411703
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Microcephaly, Hypotelorism, Atrial septal defect ORPHA:3469
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity OMIM:615981
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly ORPHA:2515
Weill-Marchesani Syndrome 1
Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Mitral regurgitation, Pulmonic... OMIM:277600
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Microcephaly, Hypertelorism, Micrognathia, Giant platelets, Anemia,... OMIM:611209
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Microcephaly, Secundum atrial septal defect, Splenomegaly, Hepatos... OMIM:612541
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Congestive h... OMIM:314400
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Macrocephaly, Failure to thrive ORPHA:796
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ... ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Hypertelorism, Mitral valve prolapse, Mitral regurgitation, Aor... OMIM:614185
Myhre Syndrome
Mandibular prognathia, Ventricular septal defect, Small for gestational age, Microcephaly, Perica... OMIM:139210
Joubert Syndrome 36
Molar tooth sign on MRI, Open mouth OMIM:618763
Feingold Syndrome Type 2
Ventricular septal defect, Microcephaly ORPHA:391646
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Retrognathia, Hepatosplenomeg... ORPHA:79330
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... ORPHA:398124
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect, Microcephaly ORPHA:3434
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Micrognathia, Cardiomyopathy OMIM:620089
Anauxetic Dysplasia 1
Mandibular prognathia, Hip contracture, Hypertelorism, Elbow flexion contracture, Macroglossia, A... OMIM:607095
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Atrial septal d... OMIM:611134
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Microcephaly, Pericardial effusion,... OMIM:212065
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, Micrognathia, Macrocephaly, Aortic valve stenosis, Retro... ORPHA:2780
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Edema, Pericardial effusion, Thrombocytop... ORPHA:167
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Neurofibromatosis-Noonan Syndrome
Hypertelorism, Secundum atrial septal defect, Macrocephaly, Pulmonic stenosis, Webbed neck OMIM:601321
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, To... ORPHA:2863
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, P... OMIM:606003
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Camptodactyly of finger, Meningocele, Duodena... ORPHA:1759
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopa... ORPHA:199241
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity, Hypomimic face ORPHA:93952
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakn... ORPHA:98915
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
14Q11.2 Microdeletion Syndrome
Deeply set eye, Micrognathia, Ventricular septal defect, Hypertelorism ORPHA:261120
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... ORPHA:99827
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Lymphopenia OMIM:182410
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Small for gestational age, Bicuspid aortic valve, Micrognathia, Macroglossia, Aortic v... OMIM:614501
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Microcephaly, Hypertelorism, Micrognathia, Retrognathia, Abnormal hear... ORPHA:352490
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Small for gestational age, Microcephaly, Hypertelorism, Micrognathia, ... OMIM:619148
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Alg9-Cdg
Microretrognathia, Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect,... ORPHA:79328
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Flexion contracture of finger, Ventricular septal defect, Small for gestati... ORPHA:464311
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Tetralogy of Fallot, Hypotelori... OMIM:612946
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Hypertelorism, Micrognathia, Splenomega... ORPHA:955
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypoplastic left atrium... OMIM:615524
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Mitral regurgitation, Aortic ... OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Microcephaly, Hypertelorism, Atrial sep... OMIM:300887
Hennekam Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegal... ORPHA:2136
Joubert Syndrome 32
Molar tooth sign on MRI, Hypertrophic cardiomyopathy OMIM:617757
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... OMIM:142900
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Ventricular septal defect, Microcephaly, Secundum atria... OMIM:616268
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Dilated cardiomyopathy, Left ventricular hypertrophy, Cerebral edema OMIM:618321
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Small for gestational age, Microcephaly, Secundum atrial septal defect, Hy... OMIM:613355
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Hypertelorism, Secondary microc... OMIM:618652
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Hypertelorism, Hypoplasia of the maxilla, Macrocephaly, Atrial se... ORPHA:261295
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Teebi-Shaltout Syndrome
Ventricular septal defect, Hypertelorism, Microcephaly, Camptodactyly, Aortic valve stenosis OMIM:272950
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, ... OMIM:300967
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Congestive heart failure, Dental malocclusion, Myoca... OMIM:253250
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Triangular mouth ORPHA:166024
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Noonan Syndrome 5
Mandibular prognathia, Polyhydramnios, Large for gestational age, Hypertelorism, Webbed neck, Pul... OMIM:611553
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism, Micrognathia, Dental m... ORPHA:96121
Barth Syndrome
Mandibular prognathia, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, ... OMIM:302060
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Meningocele, Cleft palate, ... OMIM:614424
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Weill-Marchesani Syndrome 2
Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Congestive heart failure, Elbo... OMIM:608328
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic car... OMIM:615279
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... OMIM:173800
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Microcephaly, Pulmonary embolism, Congestive he... ORPHA:90308
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Small for gestational age, Ventricular septal ... ORPHA:464306
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Relative macrocephaly, Failure to thrive, Tricuspid regurgitation, Ventricular septal defect, Sle... ORPHA:466791
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Hypertension, Hypoplastic left he... OMIM:100300
Mend Syndrome
Hypertelorism, Micrognathia, Wide anterior fontanel, Abnormal heart morphology, Aortic valve sten... ORPHA:401973
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Mandibular prognathia ORPHA:99725
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Dental malocclusion, Deeply set eye, Pulmonic stenosis, Atrial septal defe... OMIM:619149
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Macrocephaly, ... ORPHA:500533
Okamoto Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Abnormal left ventricle mor... ORPHA:2729
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... ORPHA:2476
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Joubert Syndrome 10
Molar tooth sign on MRI, Deep philtrum, Thick vermilion border OMIM:300804
Jacobsen Syndrome
Ventricular septal defect, Hypertelorism, Annular pancreas, Webbed neck, Hypoplastic left heart, ... ORPHA:2308
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Ventricular septal defect, Secondary microcephaly, Hypotelorism ORPHA:3369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Microretrognathia, Hypertelorism, Patent foramen ovale, Increased nuchal t... ORPHA:280633
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Tetralogy of Fallot, Secondary microcepha... OMIM:179613
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Periorbital edema, Hypertelor... OMIM:613177
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi... OMIM:616651
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Cranioectodermal Dysplasia 2
Hepatomegaly, Cholangitis, Polyhydramnios, Hypertelorism, Micrognathia, Splenomegaly, Patent duct... OMIM:613610
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Failure to thrive, Bicuspid aortic valve OMIM:617744
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Increased nuchal translucency, Macrogloss... OMIM:615668
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Hypertelorism, ... OMIM:169400
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Failure to thrive, Flexion contracture, Microcephaly OMIM:609069
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... OMIM:618067
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Ventric... OMIM:601005
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Hypertelorism, Microcephaly, Macrocephaly, Atrial septal defect ORPHA:466926
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia, Microcephaly OMIM:617182
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Subvalv... ORPHA:3191
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Intracranial hemorrhage, Shallow orbits, Abnormal mitral val... ORPHA:740
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Dilated cardiomyopathy, Rag... ORPHA:254892
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... ORPHA:79303
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Hypertelorism ORPHA:94066
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, Ja... ORPHA:290
Frontoocular Syndrome
Micrognathia, Hypotelorism, Proptosis, Pulmonic stenosis, Atrial septal defect OMIM:605321
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Megalencephaly
Atrial septal defect, Truncal obesity, Deeply set eye, Macrocephaly ORPHA:2477
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia, Failure to thrive OMIM:619046
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Microcephaly ORPHA:357225
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Fac... ORPHA:31150
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly, Atrial sep... ORPHA:101028
Potocki-Lupski Syndrome
Mandibular prognathia, Small for gestational age, Microcephaly, Hypertelorism, Micrognathia, Dent... OMIM:610883
Joubert Syndrome 3
Atrial septal defect, Open mouth, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho... ORPHA:536471
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalo... ORPHA:280195
Filippi Syndrome
Ventricular septal defect, Microcephaly, Proptosis, Decreased body weight, Serrated incisors OMIM:272440
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropen... OMIM:603552
Tarp Syndrome
Extramedullary hematopoiesis, Hypertelorism, Micrognathia, Tetralogy of Fallot, Atrial septal def... ORPHA:2886
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve... OMIM:231050
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hypertel... OMIM:245600
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Micrognathia, Dilated ... OMIM:607598
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Hypertelorism, Type 1 musc... OMIM:619542
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Hypertelorism, Stillbirth, Atrial septal defect OMIM:263630
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypertelorism OMIM:619189
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Failure to thrive, Pulmonic stenosis, Microcephaly OMIM:619239
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Hypertelorism, Heart block, Microcephaly, Micrognathia, Premature ventricular contraction, Bacter... ORPHA:1964
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Microcephaly, Macrocephaly ORPHA:398156
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure, Cerebral edema OMIM:619355
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Microcephaly,... OMIM:616897
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Intellectual Developmental Disorder, Autosomal Recessive 79
Deeply set eye, Ventricular septal defect OMIM:620393
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Abnormal pulmonary va... ORPHA:268261
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Ca... ORPHA:353281
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Polyhydramnios, Hypertelorism, Macrocephaly, Atrial septal defect, Slender build OMIM:611087
Slc35A2-Cdg
Limb joint contracture, Camptodactyly of finger, Abnormal midbrain morphology, Abnormal heart mor... ORPHA:356961
Necrotizing Enterocolitis
Shock, Small for gestational age, Edema, Leukocytosis, Peritonitis, Abnormal heart morphology, Br... ORPHA:391673
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Delayed eruption of teeth, Tricuspid regurgitation... OMIM:143095
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Microcephaly, Micrognathia, Splenomegaly, Ascites, Anemia, Oligohydramnios ORPHA:1046
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Intellectual Developmental Disorder, X-Linked 106
Hypertelorism, Bicuspid aortic valve, Microcephaly OMIM:300997
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... OMIM:618886
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Myocarditis, Leukocytosis,... ORPHA:829
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Ventricular septal defect, Hypotelorism OMIM:314320
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect, Microcephaly OMIM:618506
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Ventricular septal defect, Microcephaly, Increased nuchal translucency... OMIM:617635
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Hemochromatosis, Type 3
Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Microcephaly, Micrognathia, At... OMIM:618142
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, M... OMIM:619343
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension, Failure to thrive ORPHA:320
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Microcephaly, Hypertelorism, Micrognathia, Severe failure to thrive, Pulmonic s... ORPHA:3304
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Micrognathia, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Asc... OMIM:618183
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis, Hypertelorism OMIM:611816
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Hypotelorism OMIM:618330
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypertelorism, Ventricular septal defect, Hypoplastic left heart, Microcephaly ORPHA:2772
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Hypertelorism, Splenomegaly, Congestive heart fail... OMIM:230500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Hypertelorism, Flexion contracture, Hypoplasia of teeth, Mitral regurgitation, Camptodactyly, Res... ORPHA:88630
Marden-Walker Syndrome
Decreased muscle mass, Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Congeni... OMIM:248700
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypoplastic left heart... OMIM:615996
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent foramen ovale, Polyhydramnios OMIM:619967
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism, Wide anterior fontanel... ORPHA:2143
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Snijders Blok-Campeau Syndrome
Hypertelorism, Perimembranous ventricular septal defect, Taurodontia, Pulmonic stenosis, Macrocep... OMIM:618205
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Bicuspid aortic valve, Microcephaly, Hypoplastic left heart, Macrocephaly,... OMIM:619721
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Hypertelorism, Patent ductus arteriosus, Cholestasis, Anemia, Ascites, Perim... OMIM:608104
Lambotte Syndrome
Hypertelorism, Retrognathia, Ventricular septal defect, Microcephaly OMIM:245552
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Large for gestational age, Hypertelorism, Dental maloc... OMIM:610733
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto... ORPHA:67
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Microcephaly, Persistence of ... OMIM:300166
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Weight loss, Pleural effusion, Hypotension,... ORPHA:188
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Microcephaly, Hypertelorism, Webbed neck, Atrial se... OMIM:618950
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Microcephaly, Splenomegaly,... OMIM:614576
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly, Hypoplasia of the maxilla... OMIM:182250
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Carious teeth, Muscular ventricular septal defect, Dental malocclusion, Abno... ORPHA:363444
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Leukocytosis, Dilated cardiomyop... OMIM:615895
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Cleft palate, Orofacial cleft, Molar tooth si... ORPHA:220493
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Hypertelorism, Atrial septal defe... ORPHA:329224
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Small for gestational age, Hypertelorism, Secundum atrial... OMIM:264090
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Edema, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocyt... OMIM:619644
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Extramedullary hematopoiesis, Hypertelorism, Micrognathia, Hepatosplenomegaly ORPHA:313855
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cardiac conduction... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cardiac conduction... ORPHA:353277
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Facial palsy, Polyhydramnios, Hypertelorism, Micrognathia, Carious teeth, Atrial sep... OMIM:620186
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Ankle flexion contracture, Hypertelorism, Micrognathia, Splenomegaly, Patent ductus... OMIM:608799
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture OMIM:617562
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Microcephaly, Asplenia, Hypertelorism, Micrognathia, Hypotelorism, Abd... OMIM:619123
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect, Secondary microcephaly OMIM:613730
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of th... ORPHA:444072
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Lymp... ORPHA:3386
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Progressive macrocephaly, Hypertelorism OMIM:602501
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypertelorism, Erythroid hypoplasia, Reticulocytope... OMIM:612528
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Micrognathia, Hypoplasi... OMIM:608149
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... ORPHA:84064
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Tetralogy... ORPHA:1166
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Elevated hemoglobin A1c, Micro... OMIM:619127
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Truncus arteriosus, Ventricular septal defect, Microcephaly OMIM:601355
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Proptosis, Pulmonic stenosis, Atrial septal defect OMIM:615102
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Microcephaly, Microgn... OMIM:614114
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Fetal Trimethadione Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Transposition of the great arteries, Atria... ORPHA:1913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Hypoplastic left heart, Bicuspid aortic valve, Double outlet right vent... OMIM:618845
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Webbed neck, Truncus arteriosus ORPHA:2516
Gitelman Syndrome
Prolonged QT interval, Neoplasm of the pancreas, Raynaud phenomenon, Pericardial effusion, Rhabdo... ORPHA:358
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Cleft palate OMIM:614120
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Ventricular septal defect, Polyhydramnios, Hypertelorism ORPHA:2256
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Hypotelorism OMIM:618974
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypoc... ORPHA:47612
Chromosome 2Q37 Deletion Syndrome
Deeply set eye, Arrhythmia, Obesity, Subvalvular aortic stenosis OMIM:600430
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Secondary microcephaly ORPHA:397951
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ... ORPHA:2348
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Hypertelorism, Incisor macrodontia, Microcephaly OMIM:615502
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Abnormal heart morphology, Macroc... ORPHA:500159
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Hypertelorism, Abnormal heart morphology, Atrial septal defect, Truncu... ORPHA:401935
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Pulmonic stenosis, Hypertelorism OMIM:616559
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios OMIM:615476
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve, Hypertelorism OMIM:615009
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Congestive heart failure, Splenomegaly, Ja... ORPHA:108
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... OMIM:231060
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Cachexi... ORPHA:3452
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Micrognathia... ORPHA:555877
Noonan Syndrome 7
Large for gestational age, Hypertelorism, Webbed neck, Pulmonic stenosis, Macrocephaly, Atrial se... OMIM:613706
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Hypertelorism, Primary microcephaly, Atrial septal defect, Patent foramen ovale ORPHA:89844
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Hepatic fib... OMIM:209900
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Fontaine Progeroid Syndrome
Mandibular prognathia, Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Smal... OMIM:612289
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... OMIM:601927
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Mandibular prognathia, Bicuspid aortic valve, Overweight, Dilated cardiomyo... ORPHA:401923
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir... ORPHA:79301
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Lambert Syndrome
Ventricular septal defect, Failure to thrive in infancy ORPHA:1296
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Increased hepatocellular lipid ... OMIM:220111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Leukopenia, Neutropenia, Failur... OMIM:251000
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Leukocytosis,... OMIM:615673
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Double Outlet Right Ventricle
Failure to thrive, Tachycardia, Ventricular septal defect, Hypertelorism, Double outlet right ven... ORPHA:3426
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Hypertelorism, Patent foramen o... OMIM:618027
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Microcephaly, Secundum... OMIM:214800
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse, Macrocephaly ORPHA:2396
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis OMIM:619462
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Hypertelorism, Mitral regurgitation, Macrocep... OMIM:615879
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Microcephaly, ... ORPHA:85323
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion ORPHA:85414
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Generali... ORPHA:79279
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Microcephaly, Splenomeg... ORPHA:2585
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myocardial contractility, Hypov... ORPHA:158687
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, L... OMIM:257200
Mend Syndrome
Microretrognathia, Aortic valve stenosis, Failure to thrive, Micrognathia OMIM:300960
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Microcephaly, Splenomegaly... OMIM:608013
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Macrocephaly, Failure to thrive, Thrombocytopenia OMIM:615085
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Hypertelorism, Webbed neck, Deeply set eye, Ma... OMIM:618316
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Microcephaly, Micrognathia, Webbed neck, Truncal obesity, Deeply set e... OMIM:270450
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Rhabdomy... OMIM:300842
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ... ORPHA:370959
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid conte... ORPHA:565612
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Cleft palate, Camptodactyly, Molar tooth sign on MRI, Bifid... OMIM:614175
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Ventricular septal defect, Hypertelorism ORPHA:93267
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Hengel-Maroofian-Schols Syndrome
Hypertelorism, Microcephaly, Bicuspid aortic valve, Foot joint contracture OMIM:619641
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ... ORPHA:79083
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Anomalous pulmon... ORPHA:1120
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
15Q14 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Deeply set eye, Biparietal narrowing, Atrial septal defect ORPHA:261190
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Tricuspid regurgitation, Dextrocardia, High palate, Short philtrum, Lon... OMIM:618929
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Weight los... ORPHA:545
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... ORPHA:404443
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increase... OMIM:618870
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Micrognathia, Congestive heart failure, Aort... ORPHA:79474
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Hypertelorism, Micrognathia, Atrial septal defe... OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 71
Deeply set eye, Ventricular septal defect, Macrocephaly OMIM:618504
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Small for gestational age, Microcephaly OMIM:615160
Houge-Janssens Syndrome 3
Hypertelorism, Microcephaly, Muscular ventricular septal defect, Proptosis, Macrocephaly, Atrial ... OMIM:618354
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... ORPHA:185
20Q13.33 Microdeletion Syndrome
Facial hypotonia, Failure to thrive in infancy, Small for gestational age, Hypertelorism, Abnorma... ORPHA:261311
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Dental malocclusion, Anemia, Hepatosplenomegaly OMIM:259730
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Ventricular septal defect, Diastasis recti, Large for gestational age,... ORPHA:254534
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Flexion contracture... OMIM:619306
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Amyloidosis, Familial Visceral
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... ORPHA:477817
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Hyperte... ORPHA:3427
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Hepatomegaly, Facial hypotonia, Ventricular septal defect, Congenital diap... OMIM:312870
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... ORPHA:3260
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Microcephaly, Congestive heart failure, Patent ductus arteriosus, Thrombocytopenia,... OMIM:617303
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hydrops... ORPHA:85212
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Al-Raqad Syndrome
Atrial septal defect, Deeply set eye, Microcephaly OMIM:616459
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Carious teeth, Dental malocclusion, Deeply... OMIM:613680
Costello Syndrome
Ventricular septal defect, Failure to thrive in infancy, Polyhydramnios, Abnormal dental enamel m... ORPHA:3071
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Hypertelorism OMIM:619825
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hypertelorism, Subvalvular aortic stenosis OMIM:217085
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Elbow flexion co... OMIM:121050
Orofaciodigital Syndrome Vi
Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ... OMIM:277170
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Hypertelorism, Pericardial effusion, Patent ductus... ORPHA:1272
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly OMIM:617767
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Microcephaly, Hypertelorism, Obesity, Mitral reg... ORPHA:254346
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... ORPHA:98849
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Joubert Syndrome 7
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Bicuspid aortic valve, Microcephaly, Hypertelorism, Micrognathia, Flexion ... OMIM:619720
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Small for gestational age, Ventricular septal defect, Polyhydramnios, Microcephaly,... OMIM:301056
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Hypertelorism, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA... OMIM:619824
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Micrognathia, Microcephaly ORPHA:93946
Viss Syndrome
Epidural hemorrhage, Polyhydramnios, Micrognathia, Right ventricular dilatation, Deeply set eye, ... OMIM:619472
Noonan Syndrome 2
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Hypertelorism,... OMIM:605275
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Hypertelorism, Atrial septal defect, Pulmonary arterial hypertension, Failure to th... OMIM:614857
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur... OMIM:616050
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Microcephaly, Splenomegaly, Patent ductus arteriosus, Jaundice, ... OMIM:251290
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Hypoplastic left heart, Joint contracture of th... OMIM:619562
22Q11.2 Duplication Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Micrognathia, Hypoplastic left heart, Tra... ORPHA:1727
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... OMIM:603387
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Hepatocellular carc... ORPHA:465508
Orofaciodigital Syndrome Type 6
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Abnormal heart morpholo... ORPHA:2754
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Cinca Syndrome
Eosinophilia, Lymphedema, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Proptosis, Anemia OMIM:607115
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Congenital diaphragmatic hernia, Anencephaly, Cleft... OMIM:616546
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Abn... ORPHA:1451
Intellectual Developmental Disorder, Autosomal Dominant 48
Macrocephaly, Ventricular septal defect, Bicuspid aortic valve, Microcephaly OMIM:617751
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Hypertelorism, Micrognathia, Obesity, Abnormal hea... ORPHA:261197
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Distal Deletion 12Q
Failure to thrive in infancy, Microcephaly, Micrognathia, Wide anterior fontanel, Patent ductus a... ORPHA:96149
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Retrognathia, Hypotelorism, Skeletal muscl... OMIM:617164
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Microcephaly, Congestive heart failure, Splenomegaly, Jaundice... ORPHA:525731
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Partial an... OMIM:619657
Jansen-De Vries Syndrome
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve OMIM:617450
Prolidase Deficiency
Hepatomegaly, Hypertelorism, Micrognathia, Splenomegaly, Diffuse telangiectasia, Anemia, Proptosi... OMIM:170100
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Microcephaly, Flexion contracture, Retrognathia, Decreased body weight... OMIM:617452
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Overweight, Macrocephaly, Atrial septal ... OMIM:619769
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Atelis Syndrome 1
Atrial septal defect, Carious teeth, Ventricular septal defect OMIM:620184
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Alpha-N-Acetylgalactosaminidase Deficiency
Thick vermilion border, Cardiomegaly ORPHA:3137
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI OMIM:614465
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Myositis, Myocarditis,... ORPHA:809
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system, Chylopericardium, L... ORPHA:538
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Dextrocardia, Abnormality of the dentition, Malabsorption, Anteriorly ... ORPHA:2315
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Joubert Syndrome 27
Molar tooth sign on MRI, Thick lower lip vermilion OMIM:617120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Sudden cardiac death, C... OMIM:201475
Gómez-López-Hernández Syndrome
Thin vermilion border, Abnormal brainstem morphology ORPHA:1532
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios ORPHA:139466
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic her... OMIM:614294
17Q12 Microduplication Syndrome
Atrial septal defect, Deeply set eye, Polyhydramnios ORPHA:261272
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Failure to thrive i... OMIM:619418
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Delayed eruption of permanent teeth, Micrognathia, Microcephaly OMIM:619356
8P11.2 Deletion Syndrome
Hemolytic anemia, Microcephaly, Hypertelorism, Splenomegaly, Patent ductus arteriosus, Spherocyto... ORPHA:251066
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Hypertel... ORPHA:1782
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Microcephaly, Situs inversus totalis OMIM:619881
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous return, Webbed neck, ... OMIM:617478
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Scapular winging, Bicuspid aortic valve, Myocardial infarction, Microcepha... OMIM:150230
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microcephaly, Hypertelorism, ... OMIM:616920
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Galloway-Mowat Syndrome 7
Ventricular septal defect, Edema, Micrognathia, Microcephaly, Dilated cardiomyopathy OMIM:618348
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Transposition of th... OMIM:314390
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:1842
Lujan-Fryns Syndrome
Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Macrocephaly, Atrial septal defect ORPHA:776
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Deeply set e... OMIM:618494
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Retrognathia, Secondary microcephaly, Hypertrophic cardiomyopathy, Fai... OMIM:612938
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Webbed neck, Micrognathia, Mitral valve prolapse ORPHA:536532
Trisomy 1Q
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital... ORPHA:261344
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Sp... OMIM:235255
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Wide anterior ... ORPHA:457279
Seckel Syndrome 9
Ventricular septal defect, Small for gestational age, Congenital diaphragmatic hernia, Microcepha... OMIM:616777
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... OMIM:617022
Thanatophoric Dysplasia Type 2
Polyhydramnios, Increased nuchal translucency, Proptosis, Macrocephaly, Atrial septal defect ORPHA:93274
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Proptosis, Macrocephaly, Atrial septal defect ORPHA:2655
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Edema, Cardiome... ORPHA:51608
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Hypertelorism, Mitral regurgitation, Neonatal death, Atria... OMIM:620244
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
16P12.1P12.3 Triplication Syndrome
Tachycardia, Retrognathia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial... ORPHA:485405
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertelorism, Micrognathia, Hypotelorism, Mitral valve prolapse, Secondary microcephaly, Atrial ... OMIM:300986
Monosomy 13Q34
Epistaxis, Microcephaly, Hypertelorism, Micrognathia, Obesity, Hematochezia, Pulmonic stenosis, C... ORPHA:96168
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Al Kaissi Syndrome
Torticollis, Microcephaly, Hypertelorism, Decreased head circumference, Decreased body weight, At... OMIM:617694
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Prox... ORPHA:905
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... ORPHA:1414
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Ventricular septal defect, Hypertelorism, Situs inversus totalis, Microcep... ORPHA:1908
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Hepatomegaly, Portal hypertension, Splenomegaly, Esophage... OMIM:216360
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Hypertelorism, Abnormal heart morphology, Arthr... ORPHA:369891
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Supernumerary tooth, Abnormality of masseter muscle,... ORPHA:314621
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C... OMIM:619573
Gm1 Gangliosidosis
Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Congestive heart failu... ORPHA:354
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia OMIM:606763
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Abdominal obesity, Mitral regurgitation, Camptodactyly, Atrial septal ... OMIM:301039
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Microcephaly, Retrognathia, Decreased body wei... ORPHA:505237
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Microcephaly OMIM:619318
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis OMIM:615630
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Abnormal heart morphology, Total anomalous pulmonary ven... ORPHA:261183
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial septal de... ORPHA:124
Noonan Syndrome 13
Lymphedema, Microcephaly, Hypertelorism, Micrognathia, Mitral valve prolapse, Mitral regurgitatio... OMIM:619087
Inverted Duplicated Chromosome 15 Syndrome
Deeply set eye, Tetralogy of Fallot, Ventricular septal defect, Microcephaly ORPHA:3306
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Small thenar eminence, Joint contracture of the 4th finger, ... OMIM:618914
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Hypertelorism, Patent ductus ... ORPHA:284984
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Cleft upper lip, Anencephaly, Cleft palate, Transposition of the... OMIM:313850
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... OMIM:224120
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Ventricular septal defect, Micrognathia OMIM:617616
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... OMIM:608978
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation OMIM:615665
Joubert Syndrome 37
Molar tooth sign on MRI, Hepatomegaly, High palate OMIM:619185
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia, Ventricular septal defect, Hypertelorism OMIM:616901
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Hypertelorism, Micrognathia,... ORPHA:52
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Microcephaly, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis... OMIM:613989
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... OMIM:222470
Brachydactyly, Type B1
Ventricular septal defect, Wide anterior fontanel, Delayed eruption of permanent teeth, Camptodac... OMIM:113000
Spondylo-Ocular Syndrome
Webbed neck, Ventricular septal defect, Facial hypotonia, Hypertelorism ORPHA:85194
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... ORPHA:264580
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy... ORPHA:39041
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophag... ORPHA:2437
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... ORPHA:91347
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia OMIM:613101
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Skeletal muscle atroph... OMIM:615512
Coach Syndrome 2
Molar tooth sign on MRI, Hypertension OMIM:619111
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Microcephaly, Splenomegaly, Vasculitis, Cardiomyopathy, Progressive microcephaly, P... OMIM:225750
Squalene Synthase Deficiency
Bicuspid aortic valve, Failure to thrive in infancy, Micrognathia, Elbow flexion contracture, Kne... OMIM:618156
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Microcephaly, Leukocytosis, Dilated card... ORPHA:20
Dextrocardia
Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal heart morpho... ORPHA:1666
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi... OMIM:620233
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Leukocytosis, Weight loss, Hematochezia, Ascites, Anemia ORPHA:2070
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Ventricular septal defect, Micrognathia, Microcephaly, Contractures of... ORPHA:3078
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly OMIM:618838
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Ventricular septal defect, Camptodactyly of finger, Hypertelorism, Wide an... OMIM:300963
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular function, Leukopenia, ... OMIM:619991
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Ogden Syndrome
Microretrognathia, Torticollis, Ventricular septal defect, Proptosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Verheij Syndrome
Small for gestational age, Ventricular septal defect, Microcephaly, Truncus arteriosus, Retrognathia OMIM:615583
Coffin-Siris Syndrome 5
Atrial septal defect, Microcephaly OMIM:616938
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Webbed neck ORPHA:2345
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valv... ORPHA:261494
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Edema, Splenomegaly, Leukocytosis, Flexion... ORPHA:77297
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Upper limb muscle weakness, ... ORPHA:206448
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Hypertelorism, Truncus arteriosus, Retrognathia OMIM:617516
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Wide mouth, Thick vermilion border, Long philtrum,... ORPHA:1517
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Prune Belly Syndrome
Ventricular septal defect, Tetralogy of Fallot, Aplasia of the abdominal wall musculature, Atrial... ORPHA:2970
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... OMIM:618278
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal oral mucosa ... ORPHA:289
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Cachexia, Microcephaly, Retrognathia, Thin skin, Failure to thrive ORPHA:217346
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252900
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestiv... OMIM:309900
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Hypertelorism, Patent ductus arteriosus... ORPHA:79076
White Forelock With Malformations
Atrial septal defect, Hypertelorism ORPHA:2475
Tarp Syndrome
Hypertelorism, Micrognathia, Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Atrial sep... OMIM:311900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Relative macrocephaly, Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large for... OMIM:607721
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of taste sensation, Abnormal medulla oblongata morphology, Facia... ORPHA:68
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... OMIM:616367
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricular septal defect... ORPHA:99646
Cholesteryl Ester Storage Disease
Hepatomegaly, Failure to thrive, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thro... OMIM:278000
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration, Retrognathia, Micrognathia OMIM:617808
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Microcephaly, Camptodactyly, Enamel hypoplasia OMIM:619980
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale, Oligohydramnios OMIM:616854
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Obesity ORPHA:1035
Leopard Syndrome 1
Mandibular prognathia, Bundle branch block, Scapular winging, Hypertelorism, Complete atrioventri... OMIM:151100
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Hypertelorism ORPHA:521308
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hypertelorism, Telangiectasia, Macrocephaly, Atrial septal defect, Tet... OMIM:612582
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Delayed eruption of teeth, Failure to thrive, Bicuspid aortic valve, Ventr... ORPHA:261552
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Deep philtrum, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Triangular mouth OMIM:607131
3Q29 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Macrocephaly, Subvalvular aortic stenosis, Pulmonary arte... ORPHA:65286
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Hypertelorism, Splenomegaly, Flexion contracture, Enlarged to... OMIM:607014
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Failure to thrive, Bicuspid aortic valve, Abnor... ORPHA:261537
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia, Flexi... OMIM:601803
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly OMIM:609654
Poikiloderma With Neutropenia
Edema, Hypertelorism, Micrognathia, Splenomegaly, Carious teeth, Telangiectasia, Leukopenia, Neut... OMIM:604173
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatomegaly, Hypertension, Dextrocardia OMIM:613095
Lissencephaly 9 With Complex Brainstem Malformation
Hypertelorism, Ventricular septal defect, Microcephaly OMIM:618325
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Carious teeth, Deeply set eye, Thin s... OMIM:617602
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypertelorism, Microcephaly, Atrial septal defect, Pulmonary arterial ... OMIM:616449
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Bicuspid aortic valve, Hypertelorism, Micrognathia, Proptosis, Camptodactyly OMIM:618529
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Hypertelorism, Microcephaly, Micrognathia, Atrial se... OMIM:617061
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Atrial septal defect, Hepatomegaly, Dextrocardia, Tracheoesophageal fis... OMIM:277380
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia, Hypot... ORPHA:91547
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:616730
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, High, narrow palate, Abnormality of dental eruption, Abn... ORPHA:96092
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Flexion contracture, Ventricular septal defect, Microcephaly ORPHA:79243
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Micrognathia, Co... ORPHA:280365
Scrub Typhus
Splenomegaly, Myocarditis, Hypotension, Lymphadenopathy ORPHA:83317
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad... ORPHA:381
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Micrognathia, Ventricular septal defect, Microcephaly ORPHA:447980
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Hyp... OMIM:613795
Thanatophoric Dysplasia Type 1
Polyhydramnios, Wide anterior fontanel, Increased nuchal translucency, Proptosis, Macrocephaly, A... ORPHA:1860
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Microcephaly, Polyhydramnios, Micrognathia, Increased nuc... ORPHA:1052
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Zechi-Ceide Syndrome
Atrial septal defect, Mandibular prognathia, Abnormal heart morphology ORPHA:217017
Char Syndrome
No permanent dentition, Ventricular septal defect, Persistence of primary teeth, Hypertelorism ORPHA:46627
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Patent ductus arteriosus, Bicuspid aortic valve, Abnormal left ventricular ... OMIM:132900
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Edema, Thrombocytopenia, Leukocytosis, Sple... ORPHA:90051
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Carious teeth, Narrow mouth, Thin vermilion border, Long... ORPHA:96097
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
17Q23.1Q23.2 Microdeletion Syndrome
Microcephaly, Hypertelorism, Congenital contracture, Atrial septal defect, Pulmonary arterial hyp... ORPHA:261279
Woods Syndrome
Ventricular septal defect OMIM:615236
Alagille Syndrome 2
Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Deeply set eye, Facial hypotonia, Micrognathia OMIM:614526
Mowat-Wilson Syndrome
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Microcephaly, Asplenia, ... ORPHA:2152
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Microcephaly, Wide anterior fontanel, Decreased body weight, Atrial... OMIM:614886
Brucellosis
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymphadenopathy,... ORPHA:1304
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis, Micrognathia OMIM:618282
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Diabetic Embryopathy
Ventricular septal defect, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Alazami Syndrome
Atrial septal defect, Deeply set eye, Mild microcephaly ORPHA:319671
Refsum Disease
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly ORPHA:773
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Myocarditis, Thrombocytopenia, Vascul... ORPHA:50918
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Hypertelorism, Secondary microcephaly, Retrognathia, Patent foramen ov... OMIM:620113
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Relative macrocephaly, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertens... OMIM:613385
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Hypertelorism, Micrognathia, Splenomegal... ORPHA:1655
Mgat2-Cdg
Ventricular septal defect, Hypertelorism, Hydrops fetalis, Abnormal heart morphology, Reflex asys... ORPHA:79329
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left... ORPHA:99050
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Microcephaly, Polyhydramnios, Hypertelorism, ... ORPHA:363528
Cerebellofaciodental Syndrome
Ventricular septal defect, Hypoplasia of the pons, Dental malocclusion, Mitral valve prolapse, Ta... OMIM:616202
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Cleft palate, Orofacial cleft, Molar tooth sign on MRI ORPHA:220497
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Heart murmur, Perimembranous ventricular ... OMIM:158170
Bohring-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Microcephaly, Hypertelorism, Micrognathia, Flexion con... OMIM:605039
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Hypertelorism, Mitral stenosis, Oligohydramnios ORPHA:96201
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Hypoplasia of teeth, Heart murmur, Microcephaly ORPHA:2728
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Failure to thrive, Bicuspid aortic valve OMIM:616652
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocy... ORPHA:158029
Sweet Syndrome
Acute myeloid leukemia, Myositis, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lym... ORPHA:3243
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Microcephaly, Hypotr... OMIM:610443
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven... OMIM:614866
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Micrognathia, Congenital diaphragmatic hernia, Hypertelorism, ... OMIM:619699
Shashi-Pena Syndrome
Hypertelorism, Proptosis, Macrocephaly, Atrial septal defect, Retrognathia, Limb hypertonia OMIM:617190
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism, Wide anterior fontanel... OMIM:222448
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Hypertelorism, Mitral valve prolapse, Webbed neck, Pul... OMIM:609942
Fanconi Anemia, Complementation Group N
Hypertelorism, Ventricular septal defect, Aplastic anemia, Microcephaly OMIM:610832
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Knee fle... ORPHA:435638
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Increased nuchal translucency, Ab... ORPHA:453499
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticuloc... ORPHA:699
Radio-Tartaglia Syndrome
Ventricular septal defect, Hypertelorism, Microcephaly, Micrognathia, Obesity, Deeply set eye, Re... OMIM:619312
Sotos Syndrome
Mandibular prognathia, Ventricular septal defect, Hypertelorism, Muscular ventricular septal defe... OMIM:117550
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ... OMIM:615688
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Relative macrocephaly, Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Hypert... OMIM:617506
Trisomy 13
Ventricular septal defect, Hydrops fetalis, Hypotelorism, Deeply set eye, Atrial septal defect ORPHA:3378
Teebi Hypertelorism Syndrome 1
Natal tooth, Ventricular septal defect, Micrognathia, Hypertelorism, Atrial septal defect OMIM:145420
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Microcephaly ORPHA:2519
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Ventricular septal defect, Microcephaly ORPHA:452
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Foot d... OMIM:214500
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Proptosis, Ventricular septal defect OMIM:617895
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252930
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Failure to ... OMIM:612714
Kabuki Syndrome 2
Natal tooth, Microcephaly, Micrognathia, Dental malocclusion, Pulmonic stenosis, Decreased body w... OMIM:300867
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Hypertelorism, Ventricular septal defect, Microcephaly OMIM:220500
Shigellosis
Failure to thrive in infancy, Abscess, Myocarditis, Leukocytosis, Peritonitis, Rhabdomyolysis, Ch... ORPHA:810
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the... OMIM:616300
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypoplastic left atrium... OMIM:601186
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Micro... OMIM:616894
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Vasculitis, Lymphadenopathy, Joint swel... OMIM:617099
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Hypoplasia of the pons, Deep philtrum, G... OMIM:618143
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Carious teeth, Splenomegaly, Anemia, Facial paralysis, ... OMIM:259700
Joubert Syndrome 2
Encephalocele, Brainstem dysplasia, Hypoplasia of the brainstem, High palate, Molar tooth sign on... OMIM:608091
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Failure to thrive in infancy, Lymphedema, Hypertelorism, Webbed ... ORPHA:1340
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Dextrocardia, Situs inversus totalis, Myelomeningocele, Ectopic anus, Spina bifida... OMIM:613686
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Cat Eye Syndrome
Ventricular septal defect, Hypertelorism, Micrognathia, Hypoplastic left heart, Total anomalous p... OMIM:115470
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Microcephaly, Decreased body weight, Atrial septal defect, Patent fora... OMIM:609053
Chops Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Patent ductus arteriosus, O... OMIM:616368
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Weight loss,... ORPHA:514
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale, Secondary mi... OMIM:614961
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Leukocytosis, Leukopenia, Pleural empyema, Hypotension, Pleural effusion ORPHA:36238
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventricular septa... ORPHA:2461
Mucopolysaccharidosis Type 6
Macroglossia, Splenomegaly, Failure to thrive, Abnormal heart valve morphology ORPHA:583
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Tetrasomy 15Q26
Atrial septal defect, Hypertelorism, Microretrognathia, Camptodactyly OMIM:614846
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Pleural effusion OMIM:249100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Hypertelorism, Flexion contracture, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:619383
Lethal Kniest-Like Dysplasia
Polyhydramnios, Edema, Wide anterior fontanel, Macrocephaly, Atrial septal defect ORPHA:2347
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Hypoplasia of the maxilla, Secondary microcephaly, Micrognathia ORPHA:79113
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Tetraamelia Syndrome 2
Microretrognathia, Micrognathia, Ventricular septal defect, Hypertelorism OMIM:618021
Congenital Disorder Of Glycosylation, Type Iic
Microcephaly, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Enlarged kidney, Melena, Ascites, Pancre... OMIM:276700
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Microcephaly, Coronary artery fistula, Neon... OMIM:620024
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Ventricular septal defect, Failure to thrive in infancy,... OMIM:615582
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... ORPHA:2255
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Cleft palate, Cleft upper lip OMIM:217100
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Hypertelorism, Proptosis, At... ORPHA:2008
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Biparietal narrowing, Atrial septal ... ORPHA:1915
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Periorbital edema, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, L... ORPHA:32960
Joubert Syndrome 1
Brainstem dysplasia, Protruding tongue, Occipital myelomeningocele, Macroglossia, Hypoplasia of t... OMIM:213300
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Small for gestational age, Hypertelorism, Microcephaly, Micrognathia, Webbed ne... OMIM:609625
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Hypoplasia of the maxilla, Micrognathia OMIM:241310
Cardiofaciocutaneous Syndrome 1
Relative macrocephaly, Polyhydramnios, Hypertelorism, Micrognathia, Splenomegaly, Dental malocclu... OMIM:115150
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Congestive heart failu... ORPHA:579
Carpenter Syndrome 1
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... OMIM:201000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Faciocardiorenal Syndrome
Narrow mouth, Cleft palate, Hypodontia, Tricuspid valve prolapse, Endocardial fibroelastosis, Smo... ORPHA:1973
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Microcephaly, Shortened PR interval, O... OMIM:614947
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Intestinal malrota... OMIM:270100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased... OMIM:608836
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... ORPHA:1335
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Micronodular cirrhosis, Jaundice, ... OMIM:251880
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Secondary microcephaly, Pulmonic ... OMIM:610759
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... ORPHA:3318
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Micrognathia, Wide anterior fontanel, Macr... ORPHA:912
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Microcephaly, Hypertelorism, Micrognathia, Embryonal rhabdomyosarcoma,... OMIM:257300
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger, Microcephaly ORPHA:896
Distal Triplication 15Q
Large for gestational age, Hypertelorism, Micrognathia, Flexion contracture, Abnormal heart morph... ORPHA:314588
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pierre-Robin sequence... OMIM:616145
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Microcephaly, Retrognathia, Atrial septal defect, Joint contracture, Failure to t... OMIM:618005
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Edema, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia... OMIM:603553
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Hypertelorism, Macrocephaly, Atrial septal defect, Tetralogy of Fallot OMIM:617159
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Polyhydramnios, Microcephaly, Hypertelorism, Camptodactyly, Atrial sep... OMIM:617360
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale, Hypertelorism OMIM:620075
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Microcephaly, Double outlet rig... ORPHA:1596
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Hypertelorism, Hypotelo... OMIM:612530
Maternal Phenylketonuria
Ventricular septal defect, Microcephaly, Micrognathia, Abnormal heart morphology, Hypotelorism, H... ORPHA:2209
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Pulmonary arterial hyperte... OMIM:612387
Meckel Syndrome, Type 1
Occipital encephalocele, Anal atresia, Thin upper lip vermilion, Natal tooth, Intestinal malrotat... OMIM:249000
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Micrognathia, Microcephaly, Atrial septal defect, Progressive microcep... OMIM:610536
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myositis, Abscess, Edema, Myocarditis, Peritonitis, Increased circulating mye... ORPHA:36234
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Microcephaly, Abnormal cardiac septum morphology, Webbed neck, Atrial ... ORPHA:209905
Fg Syndrome Type 1
Progressive flexion contractures, Hypertelorism, Micrognathia, Mitral valve prolapse, Macrocephal... ORPHA:93932
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy, Psoriasiform dermatitis ORPHA:294023
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finge... ORPHA:261337
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Microcephaly, Hypertelorism, Micrognathia... OMIM:606232
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoi... OMIM:613179
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... OMIM:600001
Joubert Syndrome 6
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... OMIM:610688
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Camurati-Engelmann Disease
Delayed eruption of teeth, Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Carious... ORPHA:1328
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Hi... ORPHA:2463
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Hypertelorism, Mitral valve prolapse, Deeply set eye, Retrogn... OMIM:614816
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Microcephaly, Atrial septal defect, Arrhythmia, Patent foramen ovale, Enamel hypoplasia OMIM:619184
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... ORPHA:71493
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Micrognathia,... OMIM:607015
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the dentition ORPHA:349
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1458
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive, Co... OMIM:617388
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Microretrognathia, Ventricular septal defect, Microcephaly ORPHA:457193
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Natal tooth, Ventricular septal defect, Edema, Polyhydramnios, Hypertelorism, Splen... OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Macrocep... OMIM:309520
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ... OMIM:615948
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Overweight, Carious teeth, Ob... OMIM:619229
Wolcott-Rallison Syndrome
Hepatomegaly, Microcephaly, Dehydration, Decreased body weight, Atrial septal defect, Double outl... ORPHA:1667
3Q29 Microduplication Syndrome
Ventricular septal defect, Microcephaly, Obesity, Biparietal narrowing, Macrocephaly, Camptodacty... ORPHA:251038
Kury-Isidor Syndrome
Deeply set eye, Ventricular septal defect OMIM:619762
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Micronodular cirrhosis, Jaundice, ... ORPHA:309854
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Ventricular septal defect, Macrocephaly ORPHA:52055
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Hypertelorism, Hypoplasia of the maxilla, Macrocephaly, Atr... ORPHA:251061
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Tricuspid regurgitation, Carious teeth, Splenomegaly, Fl... OMIM:253200
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Abnormal heart valve morphology, Campt... ORPHA:93473
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios ORPHA:1923
Pmm2-Cdg
Mandibular prognathia, Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pe... ORPHA:79318
Colchicine Poisoning
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Dehydration, Hypotension, Cardi... ORPHA:31824
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Myositis, Periorbital edema, Splenomegaly, Flexion contracture, ... OMIM:617591
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Bdv Syndrome
Atrial septal defect, Obesity, Micrognathia OMIM:619326
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly OMIM:620296
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Hypertelorism, Microcephaly, Micrognathia, Carious teeth, Thin skin, A... OMIM:244450
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... ORPHA:117
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Ventricular septal defect, Hypoplasia of teeth, Microcephaly OMIM:234050
Japanese Encephalitis
Skeletal muscle atrophy, Abnormal substantia nigra morphology, Facial palsy, Abnormal midbrain mo... ORPHA:79139
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent ... ORPHA:488618
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Autoimmune hemolytic anemia, Hepatomegaly, Myositis, Edema, Splenomegaly... OMIM:619183
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Ventricular septal defect, Polyhydramnios, Macrocephaly OMIM:615503
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Dysplastic pulmonary valve, Microcephaly OMIM:619103
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Microcephaly, Hypertelorism, Micrognathia, Knee flexi... ORPHA:85201
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Micrognathia, Macroglossia, Deeply set ey... OMIM:613457
Ramos-Arroyo Syndrome
Hypertelorism, Carious teeth, Xerostomia, Severe failure to thrive, Primary microcephaly, Atrial ... ORPHA:1051
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:613398
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Hypertelorism OMIM:130720
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Cardiomyopathy, Abnormal myocardium... ORPHA:228308
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Heart murmur, Micrognathia ORPHA:166035
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Noonan Syndrome
Hepatomegaly, Abnormal pulmonary valve morphology, Lymphedema, Hypertelorism, Abnormality of the ... ORPHA:648
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... ORPHA:90033
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... ORPHA:288
Wiedemann-Steiner Syndrome
Hypertelorism, Microcephaly, Contracture of the distal interphalangeal joint of the fingers, Micr... OMIM:605130
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Mitral regurgitation, Biparietal... ORPHA:261250
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Fish-Eye Disease
Splenomegaly, Angina pectoris, Lymphadenopathy, Hepatomegaly ORPHA:79292
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele, Hepatomegaly OMIM:612291
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Wide anterior fon... OMIM:617063
Robinow Syndrome
Ventricular septal defect, Small for gestational age, Hypertelorism, Micrognathia, Persistence of... ORPHA:97360
Trisomy 18
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Cachexia, Congenital diaph... ORPHA:3380
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Large for gestational age, Hy... OMIM:280000
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Hypertelorism... OMIM:252500
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
White-Sutton Syndrome
Mandibular prognathia, Facial hypotonia, Congenital diaphragmatic hernia, Microcephaly, Hypertelo... OMIM:616364
Fucosidosis
Hepatomegaly, Cardiomegaly, Hypertelorism, Splenomegaly, Vacuolated lymphocytes, Flexion contract... OMIM:230000
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Micro... ORPHA:488632
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Lymphedema, Proptosis, Macrocephaly,... OMIM:600268
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Failure to thrive, Sp... OMIM:300972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m... OMIM:253800
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Biparietal narrowing ORPHA:1770
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Secondary microcephaly, Micrognathia OMIM:620073
Filippi Syndrome
Ventricular septal defect, Microcephaly ORPHA:3255
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Gingival overgrowth, Macroglossia, High pa... ORPHA:96191
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Hepatomegaly, Neutrophilia, Small for gestational age, Palpebral edema, Mi... ORPHA:99843
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Hypertelorism, Micrognathia, Achille... OMIM:218040
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Ventricular septal defect, Microcephaly, Hypertelorism, Atrial septal defe... ORPHA:464738
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Failure to thrive, Ventricular septal defect, Facial palsy, Polyhydramnios, Hypertel... OMIM:300373
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension, Decreased body weight OMIM:602531
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th... OMIM:300998
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly... ORPHA:217085
Kapur-Toriello Syndrome
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Proptosis, Polyhydramnios, Maxillozygomatic hypoplasia ORPHA:1790
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Mandibular prognathia, Tricuspid regurgitation, Hypertelorism, Hypoplasia o... OMIM:617402
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism, Transposition of the g... ORPHA:1780
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Micrognathia, Aortopulmonary window, Web... OMIM:620025
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Abnormal dental enamel morphology, Mic... ORPHA:96169
Tetrasomy 9P
Pericarditis, Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphol... ORPHA:3310
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Microcephaly, Retrognathia, Macrocephaly, Failu... OMIM:212066
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Hypertelorism, Overweight, Hematochezia, Macrocephaly, Failure to thrive OMIM:619575
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Myopathy,... ORPHA:169090
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Hypertelorism, Congestive heart failure, Retrognathia, Right bundle bran... OMIM:617403
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly... ORPHA:217093
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Skeletal muscle atrophy, Microcephaly, Splenomegaly, Ragged-red muscle fibers, Prog... OMIM:252010
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-... ORPHA:3261
Orotic Aciduria
Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:258900
De Barsy Syndrome
Delayed eruption of teeth, Decreased muscle mass, Ventricular septal defect, Hypertelorism, Deepl... ORPHA:2962
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Atrial septal defect, Ventricular septa... ORPHA:373
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Microcephaly, Hypertelor... OMIM:257920
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Biparietal narrowing, Microcephaly ORPHA:1292
Hamamy Syndrome
Prolonged QRS complex, Hypertelorism, Micrognathia, Complete atrioventricular canal defect, Denta... OMIM:611174
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Microcephaly, Elbow flexion contra... OMIM:178110
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Microcephaly, Atrial septal defect, Cyclopia ORPHA:261236
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypertelorism, Micrognathia, Atrial septal de... ORPHA:96167
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Congenital diaphragmatic hernia, Large for gestational age, Hypertelorism, Microg... OMIM:614080
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen... ORPHA:2137
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Apl... ORPHA:434179
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Hypertelorism, Microgna... OMIM:618454
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypertelorism, Double outlet right ventricle, Macrocephaly, Pulmonary ... ORPHA:163956
Buratti-Harel Syndrome
Atrial septal defect, Hypertelorism OMIM:619314
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Cleft lip, Bilateral wrist flexion contracture, Cleft palate, Con... ORPHA:97297
Mucopolysaccharidosis Type 2
Hepatomegaly, Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,... ORPHA:580
C Syndrome
Hepatomegaly, Ventricular septal defect, Micrognathia, Microcephaly, Failure to thrive OMIM:211750
Jacobsen Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Micrognathia, Flexion contracture, Macroc... OMIM:147791
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Molar tooth sign on MRI ORPHA:2318
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Fetal ascites, Micrognathia, Flexion contracture, Knee flexion contracture... OMIM:619503
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymph... ORPHA:667
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neop... ORPHA:171
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Large for gestational age, Hypertelorism, Pedal edema, Mitral valve pr... OMIM:617107
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Distal Deletion 10Q
Scapular winging, Microcephaly, Micrognathia, Hypotelorism, Facial diplegia, Proptosis, Atrial se... ORPHA:96148
Cohen Syndrome
Ventricular septal defect, Failure to thrive in infancy, Microcephaly, Micrognathia, Hypoplasia o... ORPHA:193
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Cachexia, Abnormality... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 53
Hypotelorism, Macrocephaly, Ventricular septal defect, Microcephaly OMIM:617798
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Pedal edema, Lymphade... ORPHA:342
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Relative macrocephaly, Palpebral edema, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atrial s... ORPHA:397709
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Hypertelorism, Microcephaly OMIM:614749
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, ... ORPHA:536545
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Mandibular prognathia, Microretrognathia, Bicuspid aortic valve, Facial pal... ORPHA:508498
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Ventricular septal defect, Macrocephaly OMIM:300472
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased variability in muscle fiber di... OMIM:611881
Lateral Meningocele Syndrome
Micrognathia, Proptosis, Ventricular septal defect, Hypertelorism ORPHA:2789
Stevenson-Carey Syndrome
Atrial septal defect, Joint contracture of the hand, Camptodactyly OMIM:611961
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hem... OMIM:613812
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypertelorism, Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic sten... OMIM:618223
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Hypertelorism, ... OMIM:617137
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Small for gestational age, Failure to thrive in infancy, Microcephaly, Flexion contracture, Gener... OMIM:618891
Neurooculorenal Syndrome
Intestinal malrotation, Dextrocardia, Aqueductal stenosis, Hypoplasia of the pons, Mitral valve p... OMIM:620305
Oculodentodigital Dysplasia
Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Abnormal dental enamel... ORPHA:2710
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Joint swelling OMIM:612852
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Hamartoma of tongue OMIM:617563
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Microcephaly, Broad skull, Heart murmur, Intracranial hemorrhage, Prop... ORPHA:163979
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Relative macrocephaly, Ventricular septal defect, Microcephaly, Micrognathia, Dental malocclusion... ORPHA:251028
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Increased mean cor... ORPHA:90041
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atrial septal defe... OMIM:300707
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Ventricular septal defect, Hypertelorism, Micrognathia, Wide anterior fontanel, Mac... OMIM:214100
Arima Syndrome
Hepatomegaly, Brainstem dysplasia, Esophageal varix, Wide mouth, Hypertension, Hypoplasia of the ... OMIM:243910
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hypertelorism, Micrognathia, Abnormal heart morphology, Mitral valve p... ORPHA:363700
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Proptosis, Hypertelorism OMIM:602482
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphol... ORPHA:98755
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... ORPHA:231160
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Failure to thrive, Ventricular septal defect, Microcytic anemia, Hypertelorism, Spl... OMIM:619525
Opitz Gbbb Syndrome
Hypertelorism, Wide anterior fontanel, Ventricular septal defect, Microcephaly OMIM:300000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Turnpenny-Fry Syndrome
Relative macrocephaly, Aortic regurgitation, Torticollis, Mandibular prognathia, Facial hypotonia... OMIM:618371
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Polyhydramnios, Broad skull, Atrial septal ... OMIM:600373
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Microcephaly, Hypoplasia of the maxilla, Limb hy... OMIM:609460
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemopha... OMIM:222700
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Flexion contracture, Proptosis, Camptodactyly, Atrial septal defect OMIM:207410
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Pancreatitis, Jaundice, Hypovolem... ORPHA:99826
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Hypertelorism, Microcephaly OMIM:614207
Holoprosencephaly
Failure to thrive in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Con... ORPHA:2162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Polyhydramnios, Large for gestational age, Microcephaly, Hypertelo... OMIM:300868
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Mosaic Trisomy 1
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h... ORPHA:1692
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Microcephaly, Hypertelorism, Micrognathia, Ventricular septal hypertro... OMIM:608670
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, ... ORPHA:116
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Hydrops ... ORPHA:268249
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Mandibular prognathia, Bicuspid aortic valve, Microcephaly, Hypertelorism, ... OMIM:612474
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Junct... OMIM:309801
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Hypoplasia of the thymus, Atrial septal defect, Abnormality of the ... ORPHA:567
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Primary microcephaly, Atrial septal defect, Retrognathia, Limb hypertonia ORPHA:457351
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypertelorism, Microcephaly, Micrognathia, Pr... ORPHA:251014
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Flexion contracture, Mitral regur... OMIM:271640
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios OMIM:219730
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Microcephaly, Deeply se... ORPHA:261330
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Limb joint contracture, Patent foramen ovale, Limb hypertonia OMIM:620327
Distal Deletion 19P
Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... ORPHA:96129
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Hypertelorism, Microcephaly, Camptodactyly, Atrial septal defect ORPHA:261323
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microcephaly, Micrognathia, R... ORPHA:3047
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... ORPHA:1572
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... ORPHA:95430
Noonan Syndrome 1
Ventricular septal defect, Failure to thrive in infancy, Lymphedema, Hypertelorism, Micrognathia,... OMIM:163950
Mucopolysaccharidosis Type 3
Hepatomegaly, Malabsorption, Abnormality of the dentition, Cardiomegaly, Abnormal myocardium morp... ORPHA:581
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, G... OMIM:269700
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Orofaciodigital Syndrome V
Hypertelorism, Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:174300
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of finger, Camptodactyly of finger, Mi... OMIM:256040
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules OMIM:139090
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Kapur-Toriello Syndrome
Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ... OMIM:244300
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Macrocephaly, Microcephaly, Right atrial enlargement OMIM:615219
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Micrognathia, Ventricular septal defect, Macrocephaly OMIM:250410
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Microcephaly, Hypertelorism, Carious teet... ORPHA:33364
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Ventricular septal defect, Hypertelorism, Microcephaly, Macroglossia, Peri... OMIM:301040
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Hypertelorism, Micrognathia, Bicuspid pulmonary valve, Mitral valve prolap... OMIM:609192
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Dehydration, Hype... OMIM:263200
Holoprosencephaly 14
Ventricular septal defect, Cyclopia, Microcephaly, Aortic valve atresia, Macrocephaly, Double out... OMIM:619895
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Increased nuchal translucency, Ty... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Increased nuchal translucency, Ty... ORPHA:352665
Pneumocystosis
Pleural effusion, Weight loss, Abnormal neutrophil count ORPHA:723
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... OMIM:153670
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger ORPHA:2876
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Cyclopia, Microcephaly, Micrognathia, Hypoplastic left heart, Double o... OMIM:301043
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Microc... ORPHA:2745
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Hypertelorism, Proptosis, Atrial septal defect, Advanced eruption of t... ORPHA:1519
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hypertelorism, Micrognathia, Increased n... ORPHA:3472
Fanconi Anemia, Complementation Group F
Atrial septal defect, Failure to thrive, Polyhydramnios, Microcephaly OMIM:603467
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesi... ORPHA:3138
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Hypovolemia, Dehydration, Subvalvular aortic stenosis, Failure to thrive ORPHA:47159
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Cerebral edema ORPHA:1930
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Flexion contracture, Widely spaced teeth, Long philtrum, Microdontia, Mol... OMIM:619479
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Abnormal brainstem morphology ORPHA:163961
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Large for gestational age, Hypertelorism, Abnormal right ventricle mor... ORPHA:500095
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Hypoplasia of the maxilla, Increased nuchal translucency, Hypoplasia o... ORPHA:79345
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Microcephaly, Retrognathia, Shallow orbits, Atrial septal defect, Pulm... OMIM:301030
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Ventricular septal defect OMIM:106260
Carpenter Syndrome 2
Diaphragmatic eventration, Tricuspid regurgitation, Dextrocardia, Carious teeth, High, narrow pal... OMIM:614976
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Facial edema, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Neurocardiofaciodigital Syndrome
Small for gestational age, Microcephaly, Tetralogy of Fallot, Retrognathia, Double inlet left ven... OMIM:619869
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia, Microcephaly ORPHA:93947
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Ventricular septal defect, Short mandibular rami... OMIM:602535
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Microcephaly, Hypertelorism, Splenomegal... OMIM:618268
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Microcephaly, Hypertelorism, Micrognathia, Hypotelorism, Macrocephaly, Atr... OMIM:619512
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Anemia, Hypertelorism ORPHA:30
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Truncal obesity, Retrognathia, Microcephaly ORPHA:2637
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Occipital encephalocele, Elongated superior cerebellar peduncle, Meningo... ORPHA:397715
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Spondyloocular Syndrome
Lymphedema, Mitral valve prolapse, Webbed neck, Decreased body weight, Atrial septal defect, Dysp... OMIM:605822
Fryns Syndrome
Microretrognathia, Ventricular septal defect, Polyhydramnios, Large for gestational age, Hypertel... OMIM:229850
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Patent ductus arter... OMIM:135500
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363958
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Micr... OMIM:154700
Blau Syndrome
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Xerostomia, Large vessel vascu... ORPHA:90340
Rabson-Mendenhall Syndrome
Mandibular prognathia, Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia,... ORPHA:769
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Bicuspid aortic valve, Ventricular septal defect, Palpebral ed... OMIM:619475
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Wrist flexion contracture, Micrognathia ORPHA:436003
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Large placenta, ... ORPHA:1662
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Hypertel... ORPHA:1507
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Microcephaly, Macroglossia, Pulmonic stenosis, Atrial ... OMIM:614609
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hematemesis, H... ORPHA:480520
Focal Dermal Hypoplasia
Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her... ORPHA:2092
Joubert Syndrome 5
Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle, Cleft p... OMIM:610188
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Hypertelorism, Carious teeth, Obesity, Heart murmur, Mitral valve prolapse, Abnorma... OMIM:615873
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Microcephaly, Hypertelorism, Micrognathia, Hypotelorism, Deeply set ey... OMIM:616975
Mckusick-Kaufman Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Atrial septal defect, Fai... ORPHA:2473
Neu-Laxova Syndrome 1
Ventricular septal defect, Polyhydramnios, Hypertelorism, Micrognathia, Proptosis, Stillbirth, Tr... OMIM:256520
Zttk Syndrome
Relative macrocephaly, Aortic regurgitation, Ventricular septal defect, Hypoplasia of the maxilla... OMIM:617140
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis ORPHA:1571
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Polyhydramnios, Microcephaly, Large for gestational age, Hypertelorism, Micrognathia, Hypoplasia ... OMIM:213980
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Deeply set eye, Atr... OMIM:180849
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Hypertelorism, Small thenar eminence, Pectoralis hypopla... OMIM:607323
Diamond-Blackfan Anemia 10
Micrognathia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic ... OMIM:613309
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Congestive heart failure, Obesity, Abnorma... ORPHA:444077
Cerebrocostomandibular Syndrome
Webbed neck, Micrognathia, Ventricular septal defect, Microcephaly ORPHA:1393
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... ORPHA:731
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Hypertelorism, Microcephaly, Macrocephaly OMIM:616682
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscular appea... OMIM:608594
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Abnormal brainstem morphology ORPHA:88619
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss ORPHA:764
Degcags Syndrome
Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestational age, Polyhydramnios, ... OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Micr... OMIM:210710
Distal Deletion 6P
Atrial septal defect, Micrognathia, Hypertelorism ORPHA:96125
Oculodentodigital Dysplasia
Microcephaly, Carious teeth, Taurodontia, Joint contracture of the 5th finger, Atrial septal defe... OMIM:164200
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:438213
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
Ctcf-Related Neurodevelopmental Disorder
Small for gestational age, Microcephaly, Hypertelorism, Deeply set eye, Mitral regurgitation, Mac... ORPHA:363611
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Polyhydramnios, Hypertelorism, Micrognathia, Wide anterior f... OMIM:275210
Chromosome 16P13.3 Duplication Syndrome
Facial hypotonia, Ventricular septal defect, Hypertelorism, Micrognathia, Webbed neck, Small then... OMIM:613458
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism, Muscular ventricular s... OMIM:157800
Semilobar Holoprosencephaly
Median cleft lip, Flexion contracture, Abnormal brainstem morphology, Cleft palate, Abnormal hear... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Flexion contracture, Abnormal brainstem morphology, Cleft palate, Abnormal hear... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Flexion contracture, Abnormal brainstem morphology, Cleft palate, Abnormal hear... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Flexion contracture, Abnormal brainstem morphology, Cleft palate, Abnormal hear... ORPHA:93924
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ellis-Van Creveld Syndrome
Atrial septal defect, Natal tooth, Common atrium, Delayed eruption of teeth OMIM:225500
Mosaic Trisomy 16
Atrial septal defect, Small for gestational age, Ventricular septal defect, Abnormal heart morpho... ORPHA:1708
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Hypertelorism, Elbow contracture, Knee flexion contracture OMIM:618162
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Hy... OMIM:101200
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Micrognathia, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive cardiomyopathy ORPHA:369837
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... OMIM:607872
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Retrognathia, Microcephaly OMIM:192430
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension OMIM:613834
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Microcephaly, Micrognathia, Tricus... OMIM:164280
Craniofacioskeletal Syndrome
Atrial septal defect, Micrognathia, Ventricular septal defect, Microcephaly OMIM:300712
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis OMIM:263520
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Mi... ORPHA:818
Digeorge Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Patent ductus arteriosus, M... OMIM:188400
Fanconi Anemia, Complementation Group C
Small for gestational age, Flexion contracture, Ventricular septal defect, Microcephaly OMIM:227645
Chime Syndrome
Ventricular septal defect, Hypertelorism, Supernumerary tooth, Tetralogy of Fallot, Transposition... ORPHA:3474
Wilson Disease
Hepatomegaly, Splenomegaly, Esophageal varix, Face of the giant panda sign, Limb muscle weakness OMIM:277900
Bent Bone Dysplasia Syndrome 2
Relative macrocephaly, Hepatomegaly, Webbed neck, Atrial septal defect, Arthrogryposis multiplex ... OMIM:620076
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Microdontia, Atrial ... ORPHA:904
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Microcephaly, Micrognathia, Carious teeth, Elbow flexi... OMIM:117650
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Raynaud phenomenon, Splenomegaly, Jaundice... OMIM:613471
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... OMIM:130650
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Microcephaly, Hypertelorism, Mi... ORPHA:280
Joubert Syndrome 38
Downturned corners of mouth, Molar tooth sign on MRI OMIM:619476
Fanconi Anemia
Microcephaly, Hypertelorism, Micrognathia, Weight loss, Abnormal cardiac septum morphology, Abnor... ORPHA:84
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:881
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Partial anomalous pulmo... OMIM:301044
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... OMIM:190685
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Fanconi Anemia, Complementation Group B
Ventricular septal defect OMIM:300514
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Micrognathia, Obesity, Webbed neck, Mu... ORPHA:1772
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture... ORPHA:96334
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Increased body weight, Abdominal obesity, Atrial septal defect, ... ORPHA:398069
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Abnormal heart morphology, At... ORPHA:1465
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Coronary sinus enlargement, Microcephaly, Micrognathia, Atrial septal ... OMIM:619268
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Microretrognathia, Ventricular septal defect, Small for gestational ... ORPHA:508488
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Steatorrhea, Fat malabsorption, D... ORPHA:14
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Microretrognathia, Tricuspid regurgitation, Diastasis recti, Hypertelorism,... OMIM:601776
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Microcephaly, Hypertension, Atrial septal defect, Enamel hypoplasia, Oligo... OMIM:300896
Floating-Harbor Syndrome
Thin upper lip vermilion, Atrial septal defect, Celiac disease, Carious teeth, Downturned corners... OMIM:136140
Mosaic Trisomy 20
Ventricular septal defect, Micrognathia, Dysplastic tricuspid valve, Abnormal mitral valve morpho... ORPHA:1724
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Supernumerary tooth, Atriov... OMIM:617088
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Ventricular septal defect, Hypertelorism OMIM:600460
Craniotubular Dysplasia, Ikegawa Type
Hypertelorism, Proptosis, Ventricular septal defect, Macrocephaly OMIM:619727
Hajdu-Cheney Syndrome
Ventricular septal defect, Micrognathia, Hypertelorism, Dental malocclusion, Failure to thrive OMIM:102500
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Microcephaly, Micrognathia, Atrial septal defect, Pulmonary arterial hyperte... OMIM:620005
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Hypotelorism OMIM:300968
Plague
Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enlarge... ORPHA:707
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Hypotelorism, Hepa... OMIM:218330
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... ORPHA:77293
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy, Portal hypertensi... OMIM:194050
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Microcepha... OMIM:122470
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Micrognathia, Patent foramen ovale, Hypotelorism OMIM:613884
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Microcephaly, Hypertelorism, Wide ant... OMIM:261540
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Ventricular septal defect, Polyhydramnios, Microcephaly... ORPHA:459070
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, ... ORPHA:99829
Johanson-Blizzard Syndrome
Hepatomegaly, Generalized edema, Ventricular septal defect, Small for gestational age, Portal hyp... OMIM:243800
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Hypertelorism, Micrognathia, Bicuspid pulmonary valve, Retrognathia, Mitra... OMIM:610168
Larsen Syndrome
Atrial septal defect, Hypertelorism, Ventricular septal defect, Shallow orbits OMIM:150250
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Trismus, ... OMIM:154400
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Ventricular septal defect, Small for gestational age, Microcephaly, Hypert... OMIM:194190
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... OMIM:274000
Smith-Lemli-Opitz Syndrome
Microretrognathia, Hepatomegaly, Ventricular septal defect, Microcephaly, Hypertelorism, Splenome... OMIM:270400
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Hypertelorism, Generalized mu... OMIM:235730
Esophageal Atresia
Small for gestational age, Ventricular septal defect, Failure to thrive in infancy, Polyhydramnio... ORPHA:1199
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Alagille Syndrome 1
Ventricular septal defect, Hypertelorism, Tetralogy of Fallot, Deeply set eye, Atrial septal defe... OMIM:118450
Pallister-Hall Syndrome
Neonatal death, Natal tooth, Ventricular septal defect OMIM:146510
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... ORPHA:1071
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Microcephaly, Situs inversus totalis, Micrognat... OMIM:309500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Microcephaly, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Poland Syndrome
Encephalocele, Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major mus... ORPHA:2911
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Hypertelorism, Proptosis, Macroceph... ORPHA:141099
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Lower-limb joint contracture, Failure to t... ORPHA:513456
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Celiac disease, Everted lower lip vermilion, Abnormal midbrain morphology ORPHA:293987
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
Floating-Harbor Syndrome
Atrial septal defect, Persistence of primary teeth, Celiac disease, Carious teeth, Tetralogy of F... ORPHA:2044
Bardet-Biedl Syndrome 20
Atrial septal defect, Obesity OMIM:619471
Phace Association
Ventricular septal defect OMIM:606519
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios ORPHA:436252
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Microcephaly, Hypertelorism, Micrognathia, Knee flexion contracture, Total anomalous... OMIM:609945
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, Hypoplastic left heart, Oligohydramnios ORPHA:141127
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Abnormal brainstem morphology ORPHA:2720
Early Infantile Epileptic Encephalopathy
Failure to thrive, Ventricular septal defect, Microcephaly ORPHA:1934
Diets-Jongmans Syndrome
Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Schinzel-Giedion Midface Retraction Syndrome
Hypertelorism, Macroglossia, Shallow orbits, Atrial septal defect, Failure to thrive OMIM:269150
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Microcephaly, Polyhydramnios, Hypertelorism... OMIM:268300
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Micrognathia, Complete atrioventricular canal defect, ... OMIM:236680
Microphthalmia, Syndromic 3
Ventricular septal defect, Microcephaly OMIM:206900
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Atrial septal defect, Truncus arteriosus, Failure ... ORPHA:2538
Omodysplasia 1
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:258315
Yunis-Varon Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Microcephaly,... OMIM:216340
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Micrognathia OMIM:134780
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Ventricular septal defect, Polyhydramnios, Microcepha... OMIM:606170
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Failure to thrive in infancy, Transient ischemic attack, Hypoplasia of the... ORPHA:500150
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Microcepha... OMIM:135900
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Congenital diaphragmatic hernia, Microcepha... ORPHA:199
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Ventricular septal defect, Large for gestational age, Hypertelori... ORPHA:672
47,Xyy Syndrome
Abnormal brainstem morphology ORPHA:8
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Microcephaly, Hypertension, Hydromyelia, Neonatal death, Atrial septal defect, Corneal neovascula... OMIM:308205
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Microcephaly OMIM:259770
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Bifid uvula OMIM:601374
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Hypertelorism, Carious teeth, Microcephaly, Atrial septal defect OMIM:619522
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Obesity OMIM:181450
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Abnormal brainstem morphology, Hypotension ORPHA:93256
Gangliocytoma
Abnormal brainstem morphology ORPHA:251937
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Micrognathia, Hypertelorism, Wide anterior fontanel, Stillbirth, Atrial septal... OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Microcephaly, Ventricular septal defect, Macrocephaly OMIM:620330
Kabuki Syndrome 1
Atrial septal defect, Micrognathia, Ventricular septal defect, Microcephaly OMIM:147920
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, No permanent dentition, Bi... ORPHA:821
Vater/Vacterl Association
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... OMIM:192350
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Townes-Brocks Syndrome 1
Ventricular septal defect, Small for gestational age, Microcephaly, Atrial septal defect, Tetralo... OMIM:107480
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Atr... ORPHA:857
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Microcephaly, Agenesis of maxillary lateral incisor, Webbed neck, Joint co... OMIM:309800
Hereditary Gingival Fibromatosis
Gingival fibromatosis, Gingival overgrowth ORPHA:2024
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxi... OMIM:164210
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300

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 Sos1

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 Sos1.

No publications found that use IMPC mice or data for Sos1.

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
Sos1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sos1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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