Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Genitopalatocardiac Syndrome |
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Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Right aortic arch, Tra... |
OMIM:231060 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... |
ORPHA:860 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Right Atrial Isomerism |
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Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Tricuspid Atresia |
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Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Pulmonary Atresia With Ventricular Septal Defect |
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Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Patent ductus arteriosus, Double outlet right ventricle, Decreased response to growth hormone sti... |
OMIM:618223 |
Ventricular Septal Defect 1 |
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Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Heterotaxy, Visceral, 1, X-Linked |
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Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Cyanosis, Hepatomegaly, Abd... |
OMIM:306955 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... |
OMIM:613854 |
Microphthalmia, Syndromic 9 |
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Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... |
OMIM:601186 |
Autosomal Dominant Coarctation Of Aorta |
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Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm... |
OMIM:616749 |
Lethal Congenital Contracture Syndrome 10 |
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Cardiomegaly, Hypoplasia of the thymus, Ventricular septal defect, Narrow palate, High palate, Lo... |
OMIM:617022 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, High palate, Micrognathia, Atr... |
ORPHA:3304 |
Hypoglossia With Situs Inversus |
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Asplenia, High palate, Micrognathia, Polysplenia, Hypodontia, Situs inversus totalis, Narrow mout... |
OMIM:612776 |
Transposition Of The Great Arteries, Dextro-Looped |
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Transposition of the great arteries |
OMIM:608808 |
Scimitar Syndrome |
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Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right ventricle, Ve... |
ORPHA:185 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Atrioventricular canal defect, Micrognathia, Butterfly vertebrae, Pulmonary artery dila... |
OMIM:265380 |
Conotruncal Heart Malformations |
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Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Hb Bart'S Hydrops Fetalis |
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Polyhydramnios, Anemia, Hydrops fetalis, Congestive heart failure, Pallor, Oligohydramnios, Peric... |
ORPHA:163596 |
Immunodeficiency 19 |
|
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... |
OMIM:615617 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambigu... |
OMIM:270100 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Micrognathi... |
ORPHA:1727 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Asplenia, Double outlet right ventricle, Unbalanced atrioventricular ca... |
OMIM:619657 |
Truncus Arteriosus |
|
Cyanosis, Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Aplasia/hypoplasia involving... |
ORPHA:3384 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, H... |
OMIM:615631 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Asplenia, Absent gallbladder, Atrioventricular canal defect, Pulmonary ... |
ORPHA:210122 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le... |
ORPHA:90064 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm... |
ORPHA:216694 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly, Pallor |
ORPHA:228312 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Aortic Arch Interruption |
|
Cyanosis, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary windo... |
ORPHA:2299 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F... |
OMIM:603554 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept... |
OMIM:601927 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the neck, Abnormal cardiac septum morphology, Upper limb phocomelia, Abnormal hear... |
ORPHA:294975 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Asplenia, Ventricular septal defect, Kyphosis, Micrognathia, Cleft... |
OMIM:619123 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Hypertr... |
OMIM:615415 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, L... |
OMIM:613759 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, High palate, Ventricular septal de... |
ORPHA:99776 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re... |
OMIM:602450 |
Acute Myelomonocytic Leukemia |
|
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Hypoplasi... |
ORPHA:40366 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short philtrum, Bruising susceptibility, Epistaxis, Stroke... |
OMIM:185070 |
Primary Ciliary Dyskinesia |
|
Asplenia, Double outlet right ventricle, Polysplenia, Atrial situs ambiguous, Chronic sinusitis, ... |
ORPHA:244 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Asplenia, Short toe, High palate, Ventricular septal defect, Jejunal at... |
OMIM:164280 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Deat... |
OMIM:617478 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Retrognathia, Cleft upper lip, Ventricular sep... |
OMIM:612561 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Transaldolase Deficiency |
|
Anemia, Cirrhosis, Telangiectasia, Premature skin wrinkling, Atrial septal defect, Coarctation of... |
ORPHA:101028 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Asplenia, Patent foramen ovale, High palate, Broad neck, Micrognathia, ... |
OMIM:617746 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis,... |
ORPHA:848 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetalis... |
OMIM:266200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... |
OMIM:208540 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned co... |
ORPHA:1110 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Double Outlet Right Ventricle |
|
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart mur... |
ORPHA:3426 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Cleft upper lip, Vertebral hypoplasia, Abnormal cardiac septum morphology, Shor... |
OMIM:308050 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Long philtrum, Bi... |
ORPHA:477817 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... |
OMIM:614034 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Velocardiofacial Syndrome |
|
Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Interrupted aortic arch, Velophar... |
OMIM:192430 |
Monosomy 22 |
|
Retrognathia, High palate, Long philtrum, Hepatosplenomegaly, Hypochromic microcytic anemia, Shor... |
ORPHA:96123 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Po... |
OMIM:605376 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Intestinal obstruction, Intestinal atresia, Enterocolitis, Ventricular ... |
OMIM:243150 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Cyanosis, Pulmonary arterial hypertension, Cardiomegaly, Ventricular se... |
ORPHA:95430 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He... |
OMIM:612541 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Autoimmune th... |
ORPHA:1959 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hepatomegaly, Elevated hepatic... |
OMIM:615234 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ... |
ORPHA:83471 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition ... |
ORPHA:1913 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular ... |
OMIM:606003 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Meckel Syndrome 14 |
|
Retrognathia, Cyanosis, Hepatic fibrosis, Micrognathia, Microretrognathia, Short neck, Mitral reg... |
OMIM:619879 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decreased liver function,... |
ORPHA:231222 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Crypt... |
ORPHA:1926 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Anemia, Short 5th finger, Ventricular septal defect... |
ORPHA:163979 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Elevated hepatic transaminase, Pallor, Hypertrophic cardiomyopathy, Hepatom... |
OMIM:613561 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... |
ORPHA:99050 |
Primary Myelofibrosis |
|
Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Pancytopenia, Hepatosplenomegaly, Poiki... |
ORPHA:824 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Wide mouth, Macroglossia, Everted lower lip vermilion, Cryptorchidism, Open... |
OMIM:616789 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Vertebral s... |
ORPHA:1166 |
Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Short femur, Short neck, Cleft palate, Glossoptosis, Cystic hygroma, S... |
OMIM:616145 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Elevated hepatic transaminase, Pa... |
ORPHA:507 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Oral synechia, Atrial septal defect, Scoliosis, Malar fl... |
ORPHA:1388 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Thick lower lip vermilion, Interrupted aortic arch, Everted lower lip ... |
OMIM:616920 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinu... |
OMIM:300712 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Intracranial hemorrhage, Pallor, Abnormal neutrophil count, Bone marrow hypocellulari... |
ORPHA:3226 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Micrognathia, Bifid uvula, Recurren... |
OMIM:188400 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... |
OMIM:617616 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Micrognathia, Lymphopenia, A... |
ORPHA:2306 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, He... |
ORPHA:99125 |
Meckel Syndrome, Type 1 |
|
Asplenia, Abnormal cardiac septum morphology, Micrognathia, Malformation of the hepatic ductal pl... |
OMIM:249000 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Atrial septal defect, Lymphopenia |
OMIM:614868 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum... |
OMIM:608227 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Decreased response to growth hormone stimulation test, Ventricular septal defec... |
OMIM:618624 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Death in childhood, Cardiac total anomalous pulmonary v... |
OMIM:608978 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Ever... |
OMIM:617877 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Ventricular septal defect, Jaundice, Abnormality of the pulmona... |
ORPHA:290 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... |
OMIM:300751 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Atrial septal defect... |
OMIM:615502 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... |
OMIM:615297 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Micrognathia, Jaundice, Intrahepatic biliary dysgenesis, Abnormal heart... |
OMIM:214110 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ... |
ORPHA:277 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte morphology, Sp... |
ORPHA:98375 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Pa... |
ORPHA:49827 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, P... |
OMIM:604381 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the a... |
ORPHA:228190 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Peripheral pulmonary artery ... |
ORPHA:84064 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cryptorchidism, Biventri... |
OMIM:618280 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,... |
ORPHA:251071 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto... |
ORPHA:98870 |
Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Ververi-Brady Syndrome |
|
High palate, Wide mouth, Everted lower lip vermilion, Thin upper lip vermilion, Smooth philtrum, ... |
OMIM:617982 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Retrognathia, Patent foramen ovale, Vascular dilatation, Hypoplasia of the thymus, Long philtrum,... |
OMIM:613177 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Micrognathia, Scoliosis, Cleft palate |
OMIM:615731 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Decreased testicular size, Adrenal insufficiency, Lymp... |
OMIM:617053 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Ascending tubular aorta aneurysm, Low back pain, Abnormal common carotid arter... |
ORPHA:449400 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Double outlet right ventricle, Cyanosis, Pulmonary insufficiency, Heart murmu... |
ORPHA:2326 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Micrognathia, Secundum atrial septal defect, Parathyroid... |
OMIM:214800 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Sideroblastic anemia, Hypertension, Arrhythm... |
OMIM:617021 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Thick lower l... |
OMIM:179613 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increased mean corpuscular vo... |
OMIM:613839 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Apert Syndrome |
|
Rhizomelic arm shortening, Dental malocclusion, Mandibular prognathia, Narrow palate, Ventricular... |
OMIM:101200 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall... |
OMIM:300908 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, M... |
ORPHA:261120 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Immunodeficiency 9 |
|
Ectodermal dysplasia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Death in infancy, ... |
OMIM:612782 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Sideroblastic anemia, Stroke, Thiamine-responsive megaloblastic anemia... |
OMIM:249270 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Fryns Syndrome |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Ectopic anus, Micrognathia, Abnormal a... |
ORPHA:2059 |
Spinal Muscular Atrophy, Type I |
|
Tongue fasciculations, Death in childhood, Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly |
ORPHA:90037 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Pulmonary artery stenosis, Double ou... |
OMIM:600001 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Elevated hepati... |
ORPHA:331206 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Long philtrum, Abnormal cardiac septum morphology, Interru... |
ORPHA:250989 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Jejunal atresia, Short middle phalanx of the 5th finger, Esophageal atr... |
ORPHA:391641 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Volvulus,... |
ORPHA:335 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out... |
ORPHA:2255 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Congestive heart failu... |
ORPHA:2414 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Enamel hypoplasia, Asplenia, Atrophic gastritis, Hypothyroidism, Decreased c... |
OMIM:240300 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi... |
OMIM:619717 |
American Trypanosomiasis |
|
Congestive heart failure, Pallor, Edema, Arrhythmia, Hepatomegaly, Periorbital edema, Myocarditis... |
ORPHA:3386 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Hematemesis, Thrombocytopenia, Urticaria, Purpura... |
ORPHA:906 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Situs inversus totalis, Absent frontal sinuses, Chronic sinusitis |
OMIM:244400 |
Williams Syndrome |
|
Sudden cardiac death, Peptic ulcer, Hypothyroidism, Aortic arch aneurysm, Colonic diverticula, Pr... |
ORPHA:904 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Micrognathia, Atrial septal defect, Co... |
OMIM:614857 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Abnormality of the pulmonary artery, Atrial septal ... |
ORPHA:90308 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morpholog... |
ORPHA:3405 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... |
OMIM:618534 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Jaundice, Hepatomegaly, Glossoptosis |
OMIM:614876 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Micrognathia, Retinal ... |
ORPHA:567 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Micrognat... |
ORPHA:2516 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Brain abscess, Bacterial endocar... |
ORPHA:2038 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... |
ORPHA:1461 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly |
OMIM:611590 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Reduced hemoglobin A, Hepatocellular carcin... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, High-output... |
ORPHA:231214 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort... |
OMIM:212093 |
Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth agenesis, Cleft palate, Glossop... |
ORPHA:861 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Decreased testicular size, Hyp... |
OMIM:147770 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Vertebral segmenta... |
ORPHA:3186 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Pallor, Autoimmune hemolytic anem... |
ORPHA:90033 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Pseudoaminopterin Syndrome |
|
Asplenia, Patent foramen ovale, Short 4th metacarpal, High palate, Micrognathia, Microdontia, Sho... |
ORPHA:221120 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Long philtrum, Atrial septal defect, Intestinal ma... |
ORPHA:401935 |
Diamond-Blackfan Anemia 1 |
|
Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short neck, Cleft palate, Thrombocytope... |
OMIM:105650 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Anter... |
OMIM:309801 |
Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Butterfly vertebrae, Coarctation of aorta, Hypoplast... |
ORPHA:2876 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spa... |
OMIM:618067 |
Perching Syndrome |
|
Cyanosis, High palate, Scoliosis |
OMIM:617055 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations,... |
ORPHA:276556 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Patellar hypoplasia, Ventricular ... |
OMIM:619189 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations,... |
ORPHA:276575 |
Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Death in childhood, Acrocyanosis |
OMIM:302000 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Elevated hepatic transa... |
ORPHA:300298 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Pedal edema, Retinal hemorrhage, Abnormal mean corpuscular volume, Palpit... |
ORPHA:86839 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Anemia, Rhizomelia, Short ribs, Atrial septal defect, Redundant neck sk... |
ORPHA:1842 |
Mmep Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Median cleft lip, Cryptorchidism, Orofacial cleft |
ORPHA:3434 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... |
ORPHA:3092 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter |
OMIM:617577 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A... |
OMIM:619769 |
Roifman Syndrome |
|
Biconvex vertebral bodies, Short toe, Irregular vertebral endplates, Ventricular septal defect, S... |
OMIM:616651 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Cutis marmora... |
OMIM:616589 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ectopia cordis, Cleft palate, Transposition of the gre... |
OMIM:313850 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ... |
OMIM:612946 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficie... |
ORPHA:99931 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Short toe, Myeloid leukemia, Mandibular prognathi... |
ORPHA:404443 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... |
ORPHA:98849 |
Retinitis Pigmentosa 27 |
|
Macular edema, Pallor |
OMIM:613750 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnormal... |
ORPHA:980 |
Carpenter Syndrome 1 |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Polysplenia, Atrial septal defe... |
OMIM:201000 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Waldenström Macroglobulinemia |
|
Pedal edema, Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, ... |
ORPHA:33226 |
Eisenmenger Syndrome |
|
Cyanosis, Atrioventricular canal defect, Brain abscess, Aortopulmonary window, Ventricular arrhyt... |
ORPHA:97214 |
Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect, Umbilical hernia, Cryptorchidism |
ORPHA:1918 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Short phil... |
OMIM:280000 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu... |
ORPHA:439 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine pancreatic ins... |
OMIM:269200 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Absent thumb... |
ORPHA:392 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Dextr... |
OMIM:314390 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Retrognathia, Pulmonary arterial hypertension, Ventricular septal defec... |
OMIM:608149 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Pallor, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Long philtrum, Atrial septal defect, Coarctation... |
OMIM:618494 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Death in infancy, Spina bifida, Vertebra... |
ORPHA:1120 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Retrognathia, High palate, Kyphosis, Micrognathia, Hydrocele testis, At... |
ORPHA:314588 |
3C Syndrome |
|
Atrioventricular canal defect, Ectopic anus, Micrognathia, Short neck, Cleft palate, Orofacial cl... |
ORPHA:7 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations,... |
ORPHA:276580 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Kyphosis, Short 5th meta... |
OMIM:169400 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Hypoxemia, Dextrocard... |
ORPHA:2257 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypogonadism, Bilateral radial... |
OMIM:300514 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effusion, Gingival ov... |
ORPHA:363705 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Encephalocele, Micrognathia, Anence... |
ORPHA:564 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... |
OMIM:618108 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... |
OMIM:301082 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Bifid uvula, Cutis marmorata, ... |
OMIM:612938 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... |
OMIM:619343 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Enamel hypoplasia, Retrognathia, Cirrhosis, Ventricular septal defect, ... |
OMIM:614576 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Vascular ring, Kyphosis, Atrial septal defect, Mitral regurgitation, T... |
OMIM:603387 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Broad neck, Bifid uvula, Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Tricu... |
OMIM:617506 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Tarp Syndrome |
|
Short sternum, Cyanosis, Pierre-Robin sequence, Tongue nodules, Abnormal duodenum morphology, Mic... |
ORPHA:2886 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, Downtur... |
ORPHA:1780 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Exaggerated cupid... |
OMIM:618619 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa... |
OMIM:605275 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Hamamy Syndrome |
|
Dental malocclusion, Enamel hypoplasia, High palate, Long philtrum, Wide mouth, Low posterior hai... |
OMIM:611174 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Short lower limbs, Atrial septal defect, Hematoc... |
ORPHA:261311 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Cleft upper lip, Encephalocele, Ventricular septal defect, Anal atresia, Atrial... |
OMIM:264480 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Atrial septal defect, Hepatic ... |
OMIM:615996 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Abnormal pericardium morphology, Non-midline cleft lip, Encephalocele, Ventri... |
ORPHA:1335 |
Chondrodysplasia, Blomstrand Type |
|
Short ribs, Micrognathia, Stillbirth, Micromelia, Malar flattening, Preductal coarctation of the ... |
OMIM:215045 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Kyphosis, Micrognathia, Short philtrum, Atrial septal defect, Narrow mouth, Abnorma... |
ORPHA:352490 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Ventr... |
OMIM:618316 |
Monosomy 18Q |
|
Hypothyroidism, Secundum atrial septal defect, Left aortic arch with right descending aorta and r... |
ORPHA:1600 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Abnormal heart morphology, Persistent left super... |
OMIM:614954 |
Down Syndrome |
|
Atrioventricular canal defect, Hypothyroidism, Redundant neck skin, Pulmonary artery stenosis, My... |
OMIM:190685 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidi... |
OMIM:618652 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
Sepsis In Premature Infants |
|
Hypotension, Anemia, Petechiae, Jaundice, Purpura, Pallor, Edema, Tachycardia, Hepatomegaly, Leuk... |
ORPHA:90051 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Sh... |
ORPHA:17 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Anemia, Hydrops fetalis, Reticulocytopenia, Refractory sideroblastic anemia, Ele... |
OMIM:557000 |
Alg3-Cdg |
|
High palate, Abnormal uvula morphology, Neural tube defect, Macroglossia, Coarctation of the desc... |
ORPHA:79321 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Long philtrum, Petechiae, Jaundice, ... |
OMIM:251290 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Absent thumb, Cleft soft palate, Micrognathia, Short neck, Thrombocytopen... |
ORPHA:124 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Broad neck, Low posterior hairline, Short ph... |
OMIM:300963 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Deep p... |
ORPHA:435638 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Kyphosis, Anal atre... |
OMIM:617602 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transi... |
ORPHA:99104 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De... |
ORPHA:229 |
Perlman Syndrome |
|
Everted upper lip vermilion, Volvulus, Interrupted aortic arch, Micrognathia, Pancreatic islet-ce... |
OMIM:267000 |
Emanuel Syndrome |
|
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Sacral dimple, Broad jaw, Ve... |
OMIM:609029 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tric... |
ORPHA:99106 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis |
OMIM:309620 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Ventricular septal defect, Death in infancy, Thyroid lymphangiectasia, Micrognathia,... |
OMIM:235255 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Pallor, Palpitations, Hepatomegaly, Tachycardia |
ORPHA:324575 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Recombinant 8 Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Abnormality of the neck, Ventricular septal defect, Pa... |
ORPHA:96167 |
Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Abnormality of the dentition, Microdontia, Ab... |
ORPHA:3474 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Decreased proport... |
OMIM:618048 |
8P23.1 Duplication Syndrome |
|
Long philtrum, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic st... |
ORPHA:251076 |
Myelofibrosis |
|
Pallor, Purpura, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High palate, Death in infancy, Pericardial effusion, Micrognathia, Aortic aneurysm, Atrial septal... |
OMIM:620070 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Patent ductus arteriosus, High palate, Hemolytic anemia, Hypogonadism, Micrognathi... |
ORPHA:251066 |
Alagille Syndrome |
|
Ventricular septal defect, Butterfly vertebral arch, Vertebral segmentation defect, Micrognathia,... |
ORPHA:52 |
Charge Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Aortic arch aneurysm, Abnormal cardiac septum morpholo... |
ORPHA:138 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Atrial septal defect, Te... |
OMIM:300887 |
Hereditary Methemoglobinemia |
|
Cyanosis, Methemoglobinemia, Lip discoloration |
ORPHA:621 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Abnormal aortic arch morphology, ... |
ORPHA:1596 |
Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Diabetes insipidus, Bifid uvula, Submucous cleft hard palate, Median... |
OMIM:157170 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Cle... |
OMIM:616898 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Cleft upper lip, Short 5th finger, Ventricular septal defect, Perimembranous ventricular septal d... |
OMIM:600987 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Short philtrum, Atrial septal defect, Mitral reg... |
OMIM:301039 |
Mucopolysaccharidosis-Plus Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Macroglossia, Atrial septal defect, Congestive hear... |
OMIM:617303 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Enamel hypoplasia, Pierre-Robin sequence, Ventricular septal defect, Small hand, A... |
OMIM:619980 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, High palate, Micrognathia, Spinal canal stenosis, Cutaneous abscess, Atrial sept... |
OMIM:618282 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Webbed neck, Ventricular septal defect, Abnormal cardiac septum morphology, Coro... |
OMIM:614294 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Microd... |
OMIM:601005 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Perimembranous ventricular septa... |
OMIM:608104 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of ... |
OMIM:612562 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Leukopenia, Anemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated... |
ORPHA:20 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Hepatic arteriovenous malformation, Brain abscess, Ischemic stroke, Spontaneous, recurr... |
OMIM:187300 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Craniofacia... |
ORPHA:2396 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:214300 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Oligodontia, Atrial septal defect, Thin uppe... |
OMIM:618330 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Hyperlordosis, Patent foramen ovale, Ventricular septal defect, Long ph... |
OMIM:618870 |
Lujan-Fryns Syndrome |
|
Macroorchidism, High palate, Micrognathia, Short philtrum, Atrial septal defect, Hypoplasia of th... |
ORPHA:776 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Branchial anomaly, Ventricular septal defect, Wide mouth, Jaundice,... |
ORPHA:1296 |
Fetal Gaucher Disease |
|
High palate, Death in infancy, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Stillbirt... |
ORPHA:85212 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Microvesicular hepatic steatosis, Decreased... |
OMIM:610198 |
Isolated Klippel-Feil Syndrome |
|
Webbed neck, Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Abnormal sacrum... |
ORPHA:2345 |
Hardikar Syndrome |
|
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Pulmonary artery sten... |
OMIM:301068 |
Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Prolonged neonatal jaundice, Petechiae, Multiple gastric poly... |
OMIM:225750 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Pallor, Hypochromic anemia, Mic... |
OMIM:600462 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, L... |
OMIM:208900 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Micrognathia, Redundant neck skin, Hepatosplenomegaly, Abnormal a... |
ORPHA:96334 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Cryptorchidism |
DECIPHER:39 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Cleft palate |
ORPHA:93946 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hepatomegaly, Pallor |
OMIM:246450 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Death in infancy, ... |
OMIM:208085 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Malar flatt... |
ORPHA:52056 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Ventricular septal defect, Hepatitis, Type I diabet... |
ORPHA:436252 |
Acquired Methemoglobinemia |
|
Cyanosis, Syncope, Hypoxemia, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Emanuel Syndrome |
|
Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, Redundant... |
ORPHA:96170 |
Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Bifid uvula, Short neck, Cleft palate, Absence of the pulmonary... |
OMIM:601808 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Small, conical teeth, Ventricular septal defect, High palate, Delayed e... |
ORPHA:2962 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Palmoplantar cutis laxa, Left v... |
OMIM:615355 |
Noonan Syndrome 4 |
|
Dental malocclusion, Webbed neck, Ventricular septal defect, Wide mouth, Atrial septal defect, Br... |
OMIM:610733 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... |
ORPHA:94066 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Dental malocclusion, Mandibular prognathia, High palate, Hypothyroidism, Wi... |
OMIM:610883 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Malabsorption, Purpura,... |
ORPHA:183 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnorm... |
ORPHA:555874 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Pallor, Edema, Thrombocytosis, Leukocytosis, Dehydration, Hepatomegaly |
ORPHA:134 |
Neuralgic Amyotrophy |
|
Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
Asbestos Intoxication |
|
Cyanosis, Hypoxemia, Myocardial fibrosis, Oxygen desaturation on exertion, Right ventricular fail... |
ORPHA:2302 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Downturned corners of ... |
OMIM:618974 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Bruising susceptibility, Splenic rupture, Epistaxis, Subdu... |
OMIM:202400 |
Fg Syndrome Type 1 |
|
Broad neck, Abnormal large intestine morphology, Micrognathia, Small pituitary gland, Sacral dimp... |
ORPHA:93932 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Abnormality of the t... |
OMIM:611926 |
Viss Syndrome |
|
Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft pal... |
OMIM:619472 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Wide mouth, Thick lo... |
OMIM:618950 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Hamartoma of tongue, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Hypoplastic right... |
OMIM:618142 |
Acute Interstitial Pneumonia |
|
Cyanosis, Reduced hematocrit, Pericardial effusion, Hypoxemia, Hypertension, Lymphadenopathy |
ORPHA:79126 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Retrognathia, Anemia, Vascular dilatation, Precocious puberty, Abnormal... |
ORPHA:2637 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor |
OMIM:616959 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Retrognathia, Narrow palate, Ventricular septal defect, High palate, Pe... |
OMIM:158170 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Neuropathic spinal arthropat... |
ORPHA:397709 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Pulmonary artery steno... |
ORPHA:79345 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Pancytopenia, Pallor, Eosinophilia, Thrombocytopenia |
ORPHA:90045 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Pallor |
ORPHA:2786 |
Pearson Syndrome |
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Hypothyroidism, Anemia, Decreased response to growth hormone stimulation test, Abnormality of the... |
ORPHA:699 |
Diamond-Blackfan Anemia 4 |
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Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia |
OMIM:612527 |
15Q11.2 Microdeletion Syndrome |
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Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal palate morphology... |
ORPHA:261183 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Carotid a... |
ORPHA:91387 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Macroorchidism, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect, Deep ph... |
OMIM:309520 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Bicuspid a... |
ORPHA:329224 |
Indomethacin Embryofetopathy |
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Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Sifrim-Hitz-Weiss Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Fused cervical vertebrae... |
OMIM:617159 |
Dystonia 1, Torsion, Autosomal Dominant |
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Hyperlordosis, Abnormal posturing, Scoliosis, Kyphosis |
OMIM:128100 |
Noonan Syndrome 10 |
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Patent ductus arteriosus, High palate, Ventricular septal defect, Webbed neck, Palmoplantar cutis... |
OMIM:616564 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Facial telangiectasia, Hepatosplenomegaly, Hepatomegaly, Cervical lymphadenopathy, Splenomegaly, ... |
OMIM:602782 |
Contractural Arachnodactyly, Congenital |
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Aortic root aneurysm, Patent ductus arteriosus, High palate, Ventricular septal defect, Bicuspid ... |
OMIM:121050 |
Trisomy 13 |
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Patent ductus arteriosus, Ventricular septal defect, Kyphosis, Long philtrum, Atrial septal defec... |
ORPHA:3378 |
Gaucher Disease, Type Ii |
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Anemia, Death in infancy, Double aortic arch, Trismus, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Prune Belly Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Decreased testicular size, Vertebral segment... |
ORPHA:2970 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic... |
OMIM:613834 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Patent ductus arteriosus, Dental malocclusion, Retrognathia, Thick upper lip vermilion, Perimembr... |
ORPHA:363444 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Delayed eruption of teeth, Bifid uvula, Abnormality of the pulmonary artery, Pulmonary ... |
ORPHA:261537 |
Oculoauriculofrontonasal Syndrome |
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Encephalocele, Ventricular septal defect, Micrognathia, Narrow mouth, Scoliosis, Cleft lip, Cleft... |
ORPHA:398156 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Delayed eruption of teeth, Bifid uvula, Abnormality of the pulmonary artery, Pulmonary ... |
ORPHA:261552 |
46,Xx Sex Reversal 5 |
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Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
Autosomal Recessive Robinow Syndrome |
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Bifid tongue, Ectopic anus, Micrognathia, Short neck, Gingival overgrowth, Orofacial cleft, Sacra... |
ORPHA:1507 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Webbed neck, Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Short distal phalanx... |
OMIM:601355 |
Seizures, Benign Familial Infantile, 3 |
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Cyanosis |
OMIM:607745 |
Atrial Septal Defect, Ostium Secundum Type |
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Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function,... |
ORPHA:99103 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Hypoplastic lef... |
ORPHA:2001 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemic pallor, Edema, Anemia, Hematochezia |
ORPHA:329971 |
Microphthalmia, Syndromic 12 |
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Retrognathia, Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Cryptorchidism |
OMIM:615524 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Patent ductus arteriosus, Anemia, Megaloblastic anemia, High palate, Glossitis, Pancytopenia, Atr... |
OMIM:277380 |
Loeys-Dietz Syndrome 5 |
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Aortic root aneurysm, Patent foramen ovale, Retrognathia, High palate, Ventricular septal defect,... |
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