Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventricle, Right ao... |
OMIM:231060 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, High palate, Ventricular septal defect, Long philtrum, Torticollis, Hyp... |
OMIM:617022 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Double outlet right ... |
OMIM:306955 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Ventricular septal defect, Truncus arteriosus, Hypoplastic left atrium, Coarctation... |
OMIM:601186 |
Catel-Manzke Syndrome |
|
Dextrocardia, Micrognathia, Cleft palate, High palate, Ventricular septal defect, Cleft upper lip... |
OMIM:616145 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... |
OMIM:603554 |
Hypoglossia With Situs Inversus |
|
Hypodontia, Micrognathia, High palate, Asplenia, Situs inversus totalis, Microglossia, Narrow mou... |
OMIM:612776 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... |
OMIM:616749 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Micrognathia, High palate, Persistent left superior vena cava, Double outlet right ventricle, Pat... |
ORPHA:3304 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... |
OMIM:615234 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... |
OMIM:615415 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Micrognathia, Cleft palate, Smooth philtrum, Ventricular septal defect, ... |
ORPHA:1727 |
Scimitar Syndrome |
|
Abnormality of the vertebral column, Left-to-right shunt, Truncus arteriosus, Mitral atresia, Sin... |
ORPHA:185 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Annular pancre... |
ORPHA:210122 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Oligohydra... |
ORPHA:163596 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, Neonatal death... |
OMIM:265380 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... |
OMIM:618987 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cleft palate, Neutropenia, High palate, Leukopenia, Monocytosis, Mitral regurgitati... |
OMIM:612541 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Heterotaxy, Visceral, 5, Autosomal |
|
Duodenal atresia, Single ventricle, Absence of the sacrum, Patent ductus arteriosus, Dextrocardia... |
OMIM:270100 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cleft palate, Abdominal situs inversus, Ventricular septal defect, Asplenia, Atriov... |
OMIM:619123 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... |
OMIM:613759 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Cleft palate, Abnormal heart morphology, Abnormality of the ... |
ORPHA:294975 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... |
OMIM:617241 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Hypoplastic scapulae, Cleft... |
OMIM:308050 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Hypo... |
OMIM:300400 |
Mosaic Trisomy 9 |
|
Dextrocardia, Micrognathia, Cleft palate, High palate, Ventricular septal defect, Asplenia, Hemiv... |
ORPHA:99776 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atrial ... |
OMIM:601927 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal form of t... |
ORPHA:1354 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Platyspon... |
OMIM:102700 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Third degree at... |
ORPHA:40366 |
Primary Ciliary Dyskinesia |
|
Asplenia, Persistent left superior vena cava, Double outlet right ventricle, Situs inversus total... |
ORPHA:244 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Cleft palate, Ventricular septal defect, Increased mean corpuscu... |
OMIM:612561 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Asplenia |
OMIM:618948 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Anemia, Cirrhosis, Hepatosplenom... |
ORPHA:101028 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Vertebral segmentation defect, Duodenal atresia, Phocomelia |
ORPHA:3004 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis... |
ORPHA:848 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cleft palate, Truncus arteriosus, Ventricular septal defect, Submucous cleft ... |
ORPHA:3426 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... |
OMIM:617478 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Purpura, Asplenia |
ORPHA:3204 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Hypertension, Asplenia, Coombs-positive hemolytic anemia, Lymphaden... |
OMIM:614034 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly |
ORPHA:100024 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Oral ulcer, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Monosomy 22 |
|
High palate, Hypochromic microcytic anemia, Long philtrum, Thin vermilion border, Aplasia of the ... |
ORPHA:96123 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Abnormal aortic arch morphology, Mandibular prognathia, Hypoplasia of the zygomati... |
ORPHA:1110 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... |
ORPHA:477817 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Hypoparathyroidism, Cleft palate, Ventricular septal defect, Pierre-Robi... |
OMIM:192430 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Double outlet right ventricle, Situs inversus totali... |
OMIM:605376 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia, Hepatic fibrosis, Short philtrum, Wide m... |
OMIM:606003 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia |
OMIM:242700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation,... |
OMIM:243150 |
Evans Syndrome |
|
Syncope, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune t... |
ORPHA:1959 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopat... |
ORPHA:83471 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615297 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Esophageal ... |
ORPHA:95430 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice |
OMIM:613839 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia |
OMIM:601086 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Intracranial hemorrhage, Short ... |
ORPHA:163979 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Patent ductus arteriosus, Splenomegaly, Accessory spleen, Adrenal hypoplasia, Vascu... |
OMIM:249000 |
Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Pallor, ... |
ORPHA:824 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Cleft palate, Ventricular septal defect, Transposition of the great a... |
ORPHA:1926 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Catel-Manzke Syndrome |
|
Micrognathia, Cleft palate, Ventricular septal defect, Malar flattening, Glossoptosis, Atrial sep... |
ORPHA:1388 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Hand oligodactyly, Asplenia, Phocomelia, Splenogonadal fusio... |
OMIM:156810 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Micrognathia, Cleft palate, Ventricular septal defect, Abnormality of... |
ORPHA:1166 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Hepatosplenomegaly, Pallor, Skin ulcer, Jaundice, Anemia of inadequate production, ... |
ORPHA:231222 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Transposition of the great arteries, Everted lower lip vermilion, Open ... |
OMIM:616789 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Micrognathia, Cleft palate, Ventricular septal defect, Short philtrum, H... |
OMIM:300712 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Pulm... |
OMIM:617877 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Failure to thrive, Lymphopenia, T lymphocytopenia, Absence of ... |
ORPHA:277 |
Sweeney-Cox Syndrome |
|
Micrognathia, Cleft palate, Short clavicles, High palate, Asplenia, Short philtrum, Anal atresia,... |
OMIM:617746 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Thick lower lip vermilion, High, narrow palate, Ventricular septal defec... |
OMIM:616920 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... |
ORPHA:507 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... |
ORPHA:99125 |
Retinohepatoendocrinologic Syndrome |
|
Degenerative liver disease, Pallor |
OMIM:268040 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Neutropenia, Lymphopenia |
OMIM:614868 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Abnormal... |
ORPHA:290 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Bone marrow hypocellularity,... |
ORPHA:3226 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Apert Syndrome |
|
Pyloric stenosis, Cervical C5/C6 vertebrae fusion, Cleft palate, Ventricular septal defect, Ectop... |
OMIM:101200 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Short philtrum, Sacral dimple... |
OMIM:608227 |
Mental Retardation, Autosomal Dominant 21 |
|
Cleft palate, Long philtrum, Coarctation of aorta, Thin vermilion border, Patent ductus arteriosu... |
OMIM:615502 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Micrognathia, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, In... |
OMIM:214110 |
Stormorken Syndrome |
|
Asplenia, Epistaxis, Anemia, Howell-Jolly bodies, Thrombocytopenia |
OMIM:185070 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedu... |
ORPHA:822 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Noonan Syndrome 12 |
|
Spinal canal stenosis, Ventricular septal defect, Anteriorly placed anus, Supravalvular aortic st... |
OMIM:618624 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte ... |
ORPHA:98375 |
Digeorge Syndrome |
|
Interrupted aortic arch, High, narrow palate, Micrognathia, Cleft palate, Truncus arteriosus, Hig... |
OMIM:188400 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Hypoplasia of the thymus, Patent duc... |
ORPHA:84064 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, High palate, Atrioventricular canal defe... |
ORPHA:251071 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... |
OMIM:609813 |
Ververi-Brady Syndrome |
|
Smooth philtrum, High palate, Wide mouth, Transposition of the great arteries, Everted lower lip ... |
OMIM:617982 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Neutropenia, Coarctation of aorta, Anemia, Pulmonary arterial hypertension, Atrial ... |
OMIM:614857 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, Th... |
ORPHA:49827 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Pseudocoarctation of the aorta, Patent... |
OMIM:604381 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Persistent left... |
OMIM:608978 |
Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Cleft palate, Ventricular septal defect, Hemivertebrae, Double outlet right ventric... |
OMIM:220210 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... |
ORPHA:228190 |
Feingold Syndrome 1 |
|
Micrognathia, High palate, Duodenal atresia, Asplenia, Annular pancreas, Esophageal atresia, Pate... |
OMIM:164280 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Elevated hepatic... |
ORPHA:98870 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice |
OMIM:611804 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Abnormal heart morphology, Atrial septal defect |
OMIM:617744 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Recombinant Chromosome 8 Syndrome |
|
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Double outlet right ventricle... |
OMIM:179613 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:249670 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... |
ORPHA:2248 |
Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... |
ORPHA:449400 |
Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... |
ORPHA:3400 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Midgut malrotation, Pulmonary insufficiency, Cleft palate, Short lingual ... |
ORPHA:2326 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Intermittent th... |
OMIM:150550 |
Charge Syndrome |
|
Absent tibia, Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, Decreased response to g... |
OMIM:214800 |
Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
14Q11.2 Microdeletion Syndrome |
|
Micrognathia, High palate, Ventricular septal defect, Long philtrum, Patent ductus arteriosus, De... |
ORPHA:261120 |
Meacham Syndrome |
|
Abnormality of the spleen, Conotruncal defect, Ventricular septal defect, Situs inversus totalis,... |
ORPHA:3097 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Thromboc... |
OMIM:617021 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Holoprosencephaly 2 |
|
Diabetes insipidus, Median cleft lip and palate, Solitary median maxillary central incisor, Singl... |
OMIM:157170 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
ORPHA:1436 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice |
OMIM:613977 |
Mirage Syndrome |
|
Adrenal insufficiency, Leukopenia, Anemia, Decreased body weight, Lymphopenia, Hypergonadotropic ... |
OMIM:617053 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Paten... |
OMIM:600001 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hem... |
ORPHA:90308 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Autoimmune hemolytic anemia |
ORPHA:90037 |
Fryns Syndrome |
|
Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic morphology, Micr... |
ORPHA:2059 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Death in infancy, Glossoptosis, Jaundice |
OMIM:614876 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... |
ORPHA:2255 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... |
OMIM:240300 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Abnormal aortic morphology, Micrognathia, Truncus arteriosus, Cleft palate, ... |
ORPHA:2516 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Micrognathia, Short middle phalanx of finger, Tricuspid atresia, Duodena... |
ORPHA:391641 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Duodenal atresia, Abnormal tricuspid valve... |
ORPHA:3405 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Failure to thrive, Splenome... |
OMIM:618534 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:128100 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... |
ORPHA:331206 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Splenomegaly, Congestive heart failure, Pallor,... |
ORPHA:3386 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Inflammation of the large intestine, Neutropenia, Petechiae, Hypoplasia of the thymus,... |
ORPHA:906 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Gingival bleeding, Right ventricular hypertrophy, Volv... |
ORPHA:335 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Ventricular septal defect, Cleft palate, Hypogonadotropic hypogonadism, Patent duc... |
OMIM:147770 |
Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Chronic sinusitis, Asplenia, Absent frontal sinuses |
OMIM:244400 |
Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... |
ORPHA:401935 |
Williams Syndrome |
|
Carious teeth, Bicuspid aortic valve, Rectal prolapse, Peripheral pulmonary artery stenosis, Abno... |
ORPHA:904 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, Absent gallb... |
ORPHA:3186 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Redundant neck skin, Rhizomelia, Anemia, Short ribs, P... |
ORPHA:1842 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Bacterial endocarditis, Hypoxemia, Telangiectasia, Heart murmur, Iron deficiency a... |
ORPHA:2038 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chylopericardium, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmoni... |
ORPHA:2414 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, High palate, Long philtrum, Patent ductus arteriosus, Short foot, Ankylo... |
ORPHA:250989 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Micrognathia, Death in infancy, Thin vermilion border, Cardiomyopathy, Splenomegaly... |
OMIM:608540 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Cleft palate, Truncus arteriosus, Hypoplasia of the thymus, Abnormal dental enamel... |
ORPHA:567 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aorta, Short 5th finger,... |
OMIM:600987 |
Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia, Cryptorchidism, Median cleft lip, Oral cleft |
ORPHA:3434 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pal... |
ORPHA:231214 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Diamond-Blackfan Anemia 1 |
|
Cleft palate, Neutropenia, Tricuspid stenosis, Hypoplasia of the radius, 11 pairs of ribs, Reticu... |
OMIM:105650 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
Treacher-Collins Syndrome |
|
Abnormality of the vertebral column, Cleft palate, Thyroid hypoplasia, Hypoplasia of the thymus, ... |
ORPHA:861 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Autoimmune hemolytic anemia, Congestive he... |
ORPHA:90033 |
Emanuel Syndrome |
|
Micrognathia, Cleft palate, Truncus arteriosus, High palate, Ventricular septal defect, Long phil... |
OMIM:609029 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Irregular vertebral endpla... |
OMIM:616651 |
Hadziselimovic Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, High palate, U-Shaped upper lip vermilion, ... |
OMIM:612946 |
Pseudoaminopterin Syndrome |
|
Micrognathia, High palate, Microdontia, Asplenia, Short philtrum, Sacrococcygeal pilonidal abnorm... |
ORPHA:221120 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries, Tracheoesophageal fistula, An... |
OMIM:314390 |
Phaver Syndrome |
|
Ventricular septal defect, Butterfly vertebrae, Myelomeningocele, Abnormal form of the vertebral ... |
ORPHA:2876 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood, Short finger |
OMIM:302000 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
3C Syndrome |
|
Death in infancy, Cleft palate, Adrenal hypoplasia, Aortic valve stenosis, Micrognathia, Ventricu... |
ORPHA:7 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism |
OMIM:617577 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... |
ORPHA:2306 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Cleft palate, Central retinal vessel vascular tortuosity, Bifid uvula |
ORPHA:506353 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Hypothy... |
OMIM:619189 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... |
ORPHA:276556 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Micrognathia, Ventricular septal defect, Long philtrum, Limb undergrowth, Kyphoscol... |
OMIM:608149 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Focal pancreatic islet hyperplasia, Palpitati... |
ORPHA:276575 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Patent ductus arterios... |
OMIM:618316 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Mitral regurgitation, Kyphosis, Atrial septal defect, T... |
OMIM:603387 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... |
ORPHA:300298 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... |
OMIM:269200 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Mitral regurgitation, Mandibular prognathia, Aortic root aneurysm, Kypho... |
ORPHA:404443 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Cleft palate, Hemivertebrae, Double outlet right ventricle, Webbed neck, Decr... |
OMIM:618223 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... |
OMIM:249270 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy |
OMIM:618982 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Umbilical hernia, Cryptorchidism |
ORPHA:1918 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Holt-Oram Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Phocomelia, Atrioventricular canal defect,... |
ORPHA:392 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Anemic pallor, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, ... |
ORPHA:86839 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Syncope, Normochromic ... |
ORPHA:98849 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Death in infancy, Duodenal atresia, Abnormal vertebral morphology, Bil... |
OMIM:300514 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Ventricular sept... |
OMIM:169400 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Death in infancy, Abnormal aortic valve morphology, Atrioventricular canal... |
ORPHA:1120 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Death in infancy, Inflammation of the large intestine, E... |
OMIM:614576 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Cleft palate, Cleft upper lip, Patent ductus arteriosus, Transposition of the gre... |
OMIM:313850 |
Coronary Arterial Fistula |
|
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... |
ORPHA:2041 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Malar flattening, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, Apl... |
ORPHA:52056 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Micrognathia, Short philtrum, Abnormal heart morphology, Kyphosis, Atrial septal defect, Narrow m... |
ORPHA:352490 |
Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Micrognathia, High palate, Ventricular septal defect, Palmoplantar c... |
OMIM:605275 |
Mcdonough Syndrome |
|
Micrognathia, Ventricular septal defect, Short philtrum, Mandibular prognathia, Kyphoscoliosis, F... |
OMIM:248950 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, High palate, Patent ductus arteriosus, Pulmonic stenosis, Transpositio... |
OMIM:201000 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Widely spaced teeth, Thick lower lip vermilion, Acute lymphoblastic leukemia, Cleft palate, Hypop... |
OMIM:280000 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Leukemia, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, ... |
ORPHA:33226 |
Distal Tetrasomy 15Q |
|
Micrognathia, High palate, Abnormal heart morphology, Patent ductus arteriosus, Kyphosis, Atrial ... |
ORPHA:314588 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... |
ORPHA:276580 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Pallor, He... |
ORPHA:99931 |
Eisenmenger Syndrome |
|
Brain abscess, Right ventricular failure, Left-to-right shunt, Syncope, Ventricular arrhythmia, P... |
ORPHA:97214 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Hypoxemia, Systolic heart murmur, Right bundle branch block, Cardiomeg... |
ORPHA:439 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Rectovaginal fistula, Anal atresia, Transposition of the great arterie... |
ORPHA:1780 |
Craniofaciofrontodigital Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent du... |
ORPHA:363705 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice |
OMIM:246400 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... |
OMIM:618108 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
OMIM:309620 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Left... |
OMIM:618619 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Atrial septal defect |
ORPHA:51208 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Histiocytoid cardiomyopathy, Anal atresia, Atrial septal defect, Overr... |
OMIM:309801 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Smooth philtrum, Redundant neck skin, Cardiomegaly, Patent ductus arte... |
OMIM:618652 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Blackfan-Diamond Anemia |
|
Neutropenia, Normochromic anemia, Erythroid hypoplasia, Cleft lip, Reticulocytopenia, Micrognathi... |
ORPHA:124 |
3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, High, narrow palate, Micrognathia, Cleft palate, Ventricular septal defect, Sho... |
ORPHA:435638 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Micrognathia, Redundant neck skin, Death in infancy, Cl... |
OMIM:235255 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Scoliosis, Retrognathia, Kyphosis |
OMIM:617190 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteri... |
OMIM:617506 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Hepatic steatosis, Atrial septal defect... |
OMIM:614300 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Micrognathia, High palate, Mitral valve prolapse, Hypogonadotropic hypogonadism... |
ORPHA:251066 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Meckel Syndrome |
|
Micrognathia, Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Situs invers... |
ORPHA:564 |
Tarp Syndrome |
|
Micrognathia, Cleft palate, Alveolar ridge overgrowth, Pierre-Robin sequence, Persistent left sup... |
ORPHA:2886 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Short philtrum, Patent ductus arteriosus, Protruding tongue, Broad nec... |
OMIM:300963 |
Alg3-Cdg |
|
High palate, Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Abnorma... |
ORPHA:79321 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
Perlman Syndrome |
|
Interrupted aortic arch, Micrognathia, Long upper lip, Volvulus, Distal ileal atresia, Pancreatic... |
OMIM:267000 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Ventricular septal defect, High palate, Coarctation of aorta, Intestinal malrotati... |
OMIM:617602 |
20Q13.33 Microdeletion Syndrome |
|
Short lower limbs, Abnormal cardiac ventricle morphology, Smooth philtrum, Thin vermilion border,... |
ORPHA:261311 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Neutropenia, Leukopenia, Macroglossia, Low posterior h... |
OMIM:617303 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Mesomelia, Hypoplasi... |
OMIM:228940 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Hypoxemia, Micrognathia, Cleft palate, Cyanosis, Patellar hypoplasia, Secundum atri... |
ORPHA:2257 |
Alagille Syndrome |
|
Hepatomegaly, Micrognathia, Ventricular septal defect, Hypertension, Short philtrum, Peripheral p... |
ORPHA:52 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Cleft palate, Polysplenia, Aplasia/Hypoplasia of the radius, Absent ga... |
ORPHA:1335 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... |
OMIM:615436 |
Recombinant 8 Syndrome |
|
Micrognathia, Cleft palate, Patellar aplasia, Ventricular septal defect, Cleft upper lip, Abnorma... |
ORPHA:96167 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Adrenal insufficiency, Long philtrum, Pulmonic stenosis, Tetralogy of ... |
ORPHA:251076 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure |
ORPHA:91130 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Long philtrum, Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Te... |
OMIM:300887 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Left-to-right shunt, Smooth philtrum, Abnormal heart morphology, Velopharyngeal in... |
ORPHA:363444 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Edema, Anemia, Tachycardia, Bradycardia, Sple... |
ORPHA:90051 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Hepatomegaly, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ... |
ORPHA:17 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Arthrogryposis, Distal, Type 1C |
|
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mou... |
OMIM:619110 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Charge Syndrome |
|
Interrupted aortic arch, Cleft palate, Hemivertebrae, Cleft upper lip, Abnormal aortic valve morp... |
ORPHA:138 |
Monosomy 18Q |
|
Left-to-right shunt, Patent ductus arteriosus, Aortic valve stenosis, Left aortic arch with right... |
ORPHA:1600 |
Down Syndrome |
|
Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, Macroglossia, M... |
OMIM:190685 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Phocomelia, Bilateral radial aplasia, Malar flattening, Hepatosplenomegaly, Eos... |
OMIM:274000 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Micrognathia, High palate, Short philtrum, Abnormality of the dentition, Atrial s... |
ORPHA:776 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Syncope, Palpitations, Tachycardia, Pallor |
ORPHA:324575 |
Chime Syndrome |
|
Hypodontia, Cleft palate, Ventricular septal defect, Microdontia, Short philtrum, Acute leukemia,... |
ORPHA:3474 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Cleft palate, Neutropenia, Increased mean corpuscul... |
OMIM:612562 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... |
OMIM:616898 |
Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Lambert Syndrome |
|
Ventricular septal defect, Wide mouth, Intrahepatic biliary atresia, Malar flattening, Branchial ... |
ORPHA:1296 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Microdontia, Cardiomegaly, Bradycardia, Patent ... |
OMIM:601005 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Short philtrum, Mitral regurgitation, Aortic root aneurysm, Atrial sep... |
OMIM:301039 |
Emanuel Syndrome |
|
Redundant neck skin, Truncus arteriosus, Cleft palate, Broad jaw, Patent ductus arteriosus, Delay... |
ORPHA:96170 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... |
ORPHA:99104 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
Zimmermann-Laband Syndrome 1 |
|
Thick lower lip vermilion, Hepatomegaly, High palate, Short distal phalanx of toe, Mandibular pro... |
OMIM:135500 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Cleft palate, Death in infancy, Malar flattening, Atrial septal defect, Narrow mouth |
ORPHA:93946 |
Ataxia-Telangiectasia |
|
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:208900 |
Distal Monosomy 15Q |
|
Bicuspid aortic valve, Cleft palate, Decreased serum insulin-like growth factor 1, Mitral atresia... |
ORPHA:1596 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Aortic root aneurysm |
OMIM:618496 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Aortic valve ... |
OMIM:601808 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:614947 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Ventricular septal defect, Cleft palate, Ectopic anus, Abnor... |
ORPHA:2345 |
Burn-Mckeown Syndrome |
|
Micrognathia, Cleft palate, Ventricular septal defect, Short philtrum, Mandibular prognathia, Cle... |
OMIM:608572 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
High palate, Long philtrum, Macroglossia, Spinal deformities, Kyphoscoliosis, Patent ductus arter... |
ORPHA:397709 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Micrognathia, Cleft palate, Ventricular septal defect, Anemia, Malar flattenin... |
OMIM:613309 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Macroglossia, Bifid uvula, ... |
OMIM:612938 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Pulmonary arterial hyp... |
ORPHA:2396 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Butterfly vertebrae, Coronal cleft vertebrae, Long philtrum, Patent du... |
OMIM:618870 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Cryptorchidism, Atrial septal defect |
DECIPHER:39 |
Filippi Syndrome |
|
Hypodontia, Ventricular septal defect, Short philtrum, Microdontia, Thin vermilion border, Abnorm... |
OMIM:272440 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Mitral regurgita... |
OMIM:615355 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Ogden Syndrome |
|
Premature ventricular contraction, Everted upper lip vermilion, High palate, Ventricular septal d... |
OMIM:300855 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly, Anemia, Micromelia |
OMIM:273680 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micrognathia, High palate, Ventricular septal defect, Patent ductus arteriosus, Atrial septal def... |
OMIM:618142 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula |
OMIM:258320 |
Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Gingival overgrowth, Bifid uvula, Patent ductus arteriosus |
OMIM:618658 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor, Tachycardia |
ORPHA:276608 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Diabetes insipidus, Petechiae, Multiple gastric polyps, Erythema, Cardiomyopathy, S... |
OMIM:225750 |
Fg Syndrome Type 1 |
|
Pyloric stenosis, Malar flattening, Umbilical hernia, Micrognathia, High palate, Long philtrum, F... |
ORPHA:93932 |
Hamamy Syndrome |
|
Micrognathia, Smooth philtrum, High palate, Hypodontia, Wide mouth, Long philtrum, Hypoparathyroi... |
OMIM:611174 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Wide mouth, Webbed neck, Pulmonic stenosi... |
OMIM:610733 |
Mental Retardation, Buenos Aires Type |
|
Carious teeth, High palate, Wide mouth, Intrahepatic biliary atresia, Mandibular prognathia, Atri... |
OMIM:249630 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... |
OMIM:132900 |
Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Atrial septal d... |
OMIM:618974 |
Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Cleft palate, Long philtrum, Malar flattening, Cy... |
ORPHA:3378 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus |
OMIM:601612 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulatio... |
ORPHA:20 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, High palate, Mitral valve prolapse, Palmo... |
OMIM:616564 |
Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Tortuous cere... |
OMIM:619472 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Decreased serum insulin-like growth factor 1, Intrahepatic bile du... |
OMIM:301068 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia |
OMIM:612527 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
Acquired Methemoglobinemia |
|
Hypoxemia, Syncope, Palpitations, Methemoglobinemia, Tachycardia, Cyanosis, Arrhythmia |
ORPHA:464453 |
Chromosome 9P Deletion Syndrome |
|
High, narrow palate, Micrognathia, High palate, Ventricular septal defect, Long philtrum, Malar f... |
OMIM:158170 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Intestinal ma... |
ORPHA:436252 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Short distal phalanx of toe, Cervical ver... |
ORPHA:79345 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis |
OMIM:616959 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Pancreatic hypoplasia, Lymphadenopathy, Patent ductus arteriosus, Splenome... |
OMIM:602782 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, High palate, Micrognathia, Short philtrum, Ventricular septal d... |
OMIM:309520 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Redundant neck skin, Hypoplastic nipples, Short ribs, Hepatosplenomegaly,... |
ORPHA:96334 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Tachycardia, Autoimmune hemolytic anemia |
ORPHA:90036 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Endocarditis, Malabsorption, R... |
ORPHA:183 |
Asbestos Intoxication |
|
Cor pulmonale, Hypoxemia, Right ventricular failure, Mediastinal lymphadenopathy, Cyanosis, Myoca... |
ORPHA:2302 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Short philtrum, Ectopic anus, Mandibular prognathia, Mal... |
ORPHA:94066 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Diastema, Wide mouth, Patent d... |
ORPHA:329224 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Hypoxemia, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrop... |
ORPHA:555874 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Death in infancy, Truncus arteriosus, Cleft palate, Cleft upper lip, C... |
ORPHA:2008 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Hypoxemia, Mediastinal lymphadenopathy, Pericardial effusion, Lymphade... |
ORPHA:199241 |
Suleiman-El-Hattab Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, Smooth philtrum, High palate, Wide mouth, L... |
OMIM:618950 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Smooth philtrum, High palate, Ventricular septal defect, Increased serum insulin-li... |
OMIM:270450 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Neutropenia, Decreased response to growth hormone stimulation test, Bo... |
OMIM:609053 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Micrognathia, High palate, Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Na... |
OMIM:613457 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Hypoxemia, Hypertension, Pericardial effusion, Lymphadenopathy, Cyanosis |
ORPHA:79126 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Potocki-Lupski Syndrome |
|
Micrognathia, Smooth philtrum, High palate, Wide mouth, Mandibular prognathia, Atrial septal defe... |
OMIM:610883 |
15Q11.2 Microdeletion Syndrome |
|
Abnormal palate morphology, Ventricular septal defect, Total anomalous pulmonary venous return, A... |
ORPHA:261183 |
De Barsy Syndrome |
|
Ventricular septal defect, High palate, Persistent left superior vena cava, Excessive wrinkled sk... |
ORPHA:2962 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Delayed eruption of teeth, Aortic valve st... |
ORPHA:261537 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Midclavic... |
ORPHA:79076 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Abnormality of the dentition, Micrognathia |
OMIM:616901 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Cleft palate, Smooth philtrum, High palate, Mitral regurgitation, Clef... |
OMIM:615582 |
Zechi-Ceide Syndrome |
|
Cleft palate, Short philtrum, Oligodontia, Mandibular prognathia, Short metatarsal, Abnormal hear... |
ORPHA:217017 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Patent ductus arteriosus, Delayed eruption... |
ORPHA:261552 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Robinow Syndrome |
|
Broad alveolar ridges, Triangular mouth, Umbilical hernia, Micrognathia, Hypodontia, Ventricular ... |
ORPHA:97360 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Microdontia, Anemia, Patent ductus arteriosus, Precocious puberty, Atrial septal defect, Vascular... |
ORPHA:2637 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Cleft palate, Narrow mouth |
ORPHA:2901 |
Prune Belly Syndrome |
|
Ventricular septal defect, Volvulus, Patent ductus arteriosus, Anal atresia, Intestinal atresia, ... |
ORPHA:2970 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Abnormality of the anterior pituitary, Long philtrum, Posterior pituit... |
ORPHA:75389 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Hypertension, Edema, Pallor, Dehydration, Hypotension |
ORPHA:134 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Chromosome 10Q26 Deletion Syndrome |
|
Micrognathia, Long philtrum, Webbed neck, Patent ductus arteriosus, Atrial septal defect, Thin up... |
OMIM:609625 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia |
ORPHA:255241 |
Pearson Syndrome |
|
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Neutropenia, Small for gestational age, ... |
ORPHA:699 |
Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Cleft palate, Malar flattening, Atrial septal defect, Short toe, Cryp... |
ORPHA:921 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Scoliosis, Fused cervical vertebrae |
OMIM:618469 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Webbed neck, Short distal phalanx of... |
OMIM:601355 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... |
ORPHA:371428 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:90045 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Hamartoma of tongue, Subvalvular ao... |
OMIM:217085 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bilateral cleft lip and palate, Abnormal aortic morphology, Micrognathia, Patent ductus arteriosu... |
ORPHA:2001 |
Microphthalmia, Syndromic 12 |
|
Micrognathia, Hypoplastic left atrium, Ventricular septal defect, Retrognathia, Cryptorchidism |
OMIM:615524 |
Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
Mowat-Wilson Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Patent ductus arteriosus, Delayed eruption... |
ORPHA:2152 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|