Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Genitopalatocardiac Syndrome |
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Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Tricuspid Atresia |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Right Atrial Isomerism |
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Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
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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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Ventricular Septal Defect 1 |
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Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Heart Defects, Multiple Types, 4 |
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Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Heterotaxy, Visceral, 4, Autosomal |
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Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Microphthalmia, Syndromic 9 |
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Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Micrognathia, Cryptorchidism... |
OMIM:601186 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Autosomal Dominant Coarctation Of Aorta |
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Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Heterotaxy, Visceral, 7, Autosomal |
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Atrial septal defect, Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inver... |
OMIM:616749 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Short n... |
OMIM:617022 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Hypoglossia With Situs Inversus |
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Micrognathia, Asplenia, Situs inversus totalis, High palate, Hypodontia, Polysplenia, Narrow mout... |
OMIM:612776 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Thin upper lip vermilion, Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus... |
ORPHA:3304 |
Scimitar Syndrome |
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Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Transposition Of The Great Arteries, Dextro-Looped |
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Transposition of the great arteries |
OMIM:608808 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Conotruncal Heart Malformations |
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Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... |
OMIM:265380 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... |
OMIM:270100 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Atrial septal defect, Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect... |
OMIM:619657 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Acute Peripheral Arterial Occlusion |
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Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... |
ORPHA:90064 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent duc... |
OMIM:601927 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormality of the neck, Abnormal... |
ORPHA:294975 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cryptorchidism, Kyphosis, Cleft pal... |
OMIM:619123 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Left superior vena cava drai... |
OMIM:613759 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora... |
OMIM:602450 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Intestinal malrotation, Spina bifida, Short neck, Asplenia, Cryptorchi... |
ORPHA:99776 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Asplenia, Situs inve... |
ORPHA:244 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, S... |
OMIM:185070 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... |
OMIM:612561 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Micrognathia, A... |
OMIM:164280 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Phocomelia, Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Sweeney-Cox Syndrome |
|
Micrognathia, Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, Patent ductus art... |
OMIM:617746 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
Transaldolase Deficiency |
|
Coarctation of aorta, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirr... |
ORPHA:101028 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Atrial septal defe... |
OMIM:620186 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Adrenal hypoplasia, Cleft ... |
OMIM:308050 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Cyanosis, Ventricular septal defect, Intestinal malrotation, Sub... |
ORPHA:3426 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat... |
ORPHA:477817 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... |
ORPHA:1110 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... |
OMIM:614034 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Monosomy 22 |
|
Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Thin vermil... |
ORPHA:96123 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal de... |
OMIM:605376 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema... |
OMIM:243150 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, ... |
ORPHA:95430 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... |
OMIM:612541 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Malabsorption, Atypical ... |
ORPHA:83471 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Deep philtrum, P... |
OMIM:606003 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Cyanosis, Tricuspid regurgitation, Short neck, Microg... |
OMIM:619879 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pallor, Hypertrophic cardiomyo... |
OMIM:613561 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Cleft palate, Abnormal aortic mor... |
ORPHA:1926 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent d... |
ORPHA:163979 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... |
OMIM:617616 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... |
OMIM:620210 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... |
OMIM:616789 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... |
ORPHA:3226 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low... |
OMIM:616920 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Scoliosis, Atrial septal def... |
ORPHA:1388 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Micrognathia, Cryptorchi... |
OMIM:300712 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Tetralogy of Fallot, Cleft palate, Tooth... |
ORPHA:1166 |
Catel-Manzke Syndrome |
|
Short neck, Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Overriding ao... |
OMIM:616145 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol... |
ORPHA:2306 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Micrognathia, Lobulated tongue... |
OMIM:249000 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:618624 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced ... |
OMIM:608227 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Coronary si... |
OMIM:618280 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Meacham Syndrome |
|
Accessory spleen, Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular sept... |
OMIM:608978 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia... |
ORPHA:290 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph... |
OMIM:615297 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Pa... |
ORPHA:49827 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Cryptorchidism, Jaundice, Cleft pala... |
OMIM:214110 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, High palate, Long ... |
OMIM:620184 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metaca... |
ORPHA:228190 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Narrow mouth, Patent ductus arteriosus, Cryptorchidism, Cleft palate, Coarctation ... |
OMIM:615502 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy,... |
ORPHA:251071 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Adrenal hypoplasia, Progeroid facial appearance, Vascular dil... |
OMIM:613177 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aort... |
ORPHA:449400 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Scoliosis |
OMIM:615731 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukopenia, Adrenal i... |
OMIM:617053 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous ... |
ORPHA:2326 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... |
OMIM:214800 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Immunodeficiency 9 |
|
Death in infancy, Ectodermal dysplasia, Hypoplasia of the thymus, Recurrent aphthous stomatitis, ... |
OMIM:612782 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... |
OMIM:600001 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es... |
OMIM:101200 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... |
OMIM:179613 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad... |
ORPHA:2255 |
14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Deep philtrum, Patent ductus ar... |
ORPHA:261120 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood |
OMIM:253300 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Short foot, Abnormal cardiac septum morphology, High pa... |
ORPHA:250989 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... |
OMIM:249270 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Fryns Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Abnormal aortic arch morphology, High palat... |
ORPHA:2059 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chyloper... |
ORPHA:2414 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly |
ORPHA:56425 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... |
OMIM:240300 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Gingival b... |
ORPHA:335 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Chronic sinusitis, Absent frontal sinuses, Situs inversus totalis |
OMIM:244400 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Card... |
ORPHA:3386 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Scoliosi... |
OMIM:619717 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Myocard... |
ORPHA:904 |
Tetrasomy 15Q26 |
|
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, High palate... |
OMIM:614846 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Short philtr... |
ORPHA:567 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Esopha... |
ORPHA:391641 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Transient ischemic attack, Cyanosis, Myocardial infarction, Epistax... |
ORPHA:2038 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia... |
OMIM:614857 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ... |
ORPHA:2516 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... |
ORPHA:397596 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hypoplastic left... |
OMIM:615524 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... |
ORPHA:90308 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Hepatomegaly, Ventricular septal defect, Jaundice, Glossoptosis |
OMIM:614876 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... |
ORPHA:231214 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Enc... |
ORPHA:861 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Overriding aorta, Hypoplas... |
ORPHA:3186 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Pseudoaminopterin Syndrome |
|
Micrognathia, Asplenia, Cryptorchidism, Short thumb, Sacrococcygeal pilonidal abnormality, Orofac... |
ORPHA:221120 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... |
ORPHA:90033 |
Phaver Syndrome |
|
Ventricular septal defect, Short thumb, Myelomeningocele, Hypoplastic aortic arch, Abnormal form ... |
ORPHA:2876 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Cleft palate, Anteri... |
OMIM:309801 |
Perching Syndrome |
|
Cyanosis, High palate, Scoliosis |
OMIM:617055 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... |
ORPHA:86839 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Short finger, Death in childhood |
OMIM:302000 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... |
ORPHA:404443 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Patellar hyp... |
OMIM:619189 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Intestinal malrotation... |
ORPHA:401935 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... |
OMIM:618067 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenom... |
OMIM:616589 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... |
ORPHA:439 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Redundant neck skin, Rhizomelia, Micromelia, Short neck, Patent ductus arteriosus, ... |
ORPHA:1842 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transposition of the great arteries, Ect... |
OMIM:313850 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutro... |
OMIM:105650 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Thick lower lip vermili... |
OMIM:612946 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem... |
ORPHA:99931 |
Roifman Syndrome |
|
Thin upper lip vermilion, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, ... |
OMIM:616651 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... |
OMIM:314390 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Persistence of primary teeth, Cryptorchidism, Patent ductus arteriosus... |
OMIM:201000 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... |
ORPHA:97214 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl... |
OMIM:618494 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patellar hypop... |
ORPHA:2257 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:608149 |
Distal Triplication 15Q |
|
Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphol... |
ORPHA:314588 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft |
ORPHA:3434 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Short thumb, Pate... |
ORPHA:1120 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
3C Syndrome |
|
Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft... |
ORPHA:7 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hy... |
OMIM:169400 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognat... |
ORPHA:564 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Sho... |
OMIM:300514 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... |
OMIM:618619 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Vascular ring, Mitral regurgitation, Atr... |
OMIM:603387 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen... |
OMIM:617506 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Micrognathia, Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, C... |
OMIM:619343 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... |
ORPHA:363705 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplast... |
ORPHA:261311 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Splenomegaly, Patent duc... |
OMIM:614576 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... |
ORPHA:3282 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Protruding tongue, Short neck, Cryptorchidism, Patent... |
OMIM:612938 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cyanosis, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alve... |
ORPHA:2886 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... |
ORPHA:1780 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatic steatosis, Hepatomegaly, Short femur, Short humerus, Patent ductus arteriosus, Orofacial ... |
ORPHA:17 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Stillbirth, Short ribs, Preductal coarctation of the aorta, Malar flatt... |
OMIM:215045 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Microgna... |
OMIM:605275 |
Hamamy Syndrome |
|
Hypoparathyroidism, Thin upper lip vermilion, Prolonged QRS complex, Microcytic anemia, Micrognat... |
OMIM:611174 |
Monosomy 18Q |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... |
ORPHA:1600 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, No... |
ORPHA:1335 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Petechiae, Edema, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decrea... |
ORPHA:90051 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cle... |
OMIM:264480 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Micrognathia, Cryptorchidism, Kyphosis, Abnormal heart morphology, Short philtrum, Scoliosis, Nar... |
ORPHA:352490 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Down Syndrome |
|
Redundant neck skin, Short palm, Atrial septal defect, Atrioventricular canal defect, Hypothyroid... |
OMIM:190685 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Atrial septal defect, Mesenteric cyst, Exaggerated cupid's bow, Intesti... |
OMIM:618316 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Microg... |
ORPHA:435638 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Petechiae, Splenomegaly, Cleft lip, Patent ductus arteriosus, Ja... |
OMIM:251290 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Scolios... |
OMIM:616276 |
Chromosome 5Q12 Deletion Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Micrognathia, Patent ductus arteriosus, Inc... |
OMIM:615668 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Bilateral ... |
OMIM:618652 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Coarctation of the descending aortic arch, Macroglossia, Neu... |
ORPHA:79321 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukop... |
ORPHA:124 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Micrognathia, Carious teeth, Pericardial effusion, Multiple muscular ventricula... |
OMIM:620070 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d... |
ORPHA:229 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Cyanosis, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Emanuel Syndrome |
|
Dental crowding, Micrognathia, High palate, Atrial septal defect, Cryptorchidism, Patent ductus a... |
OMIM:609029 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... |
ORPHA:251076 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Double outl... |
ORPHA:1596 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Ventricu... |
OMIM:235255 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Micrognathia, Cryp... |
OMIM:267000 |
Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Pallor, Neutr... |
ORPHA:101096 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Intestinal malrotation, Ventricular septal defect, Cutis marmorata, Carious teet... |
OMIM:617602 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly, Paten... |
ORPHA:251066 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Methemoglobinemia, Cyanosis |
ORPHA:621 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Acute lymphoblastic le... |
OMIM:280000 |
Charge Syndrome |
|
Delayed eruption of teeth, Aortic arch aneurysm, Hypogonadotropic hypogonadism, Cleft upper lip, ... |
ORPHA:138 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... |
OMIM:618048 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Multiple gastric... |
OMIM:225750 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Patent ... |
ORPHA:96167 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard palate, Bilateral cleft lip a... |
OMIM:157170 |
Alagille Syndrome |
|
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Butt... |
ORPHA:52 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Short neck, Splenomegaly, Patent ductus arteriosus, Congestive heart failure, Low p... |
OMIM:617303 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Pierre-Robin sequence, Small han... |
OMIM:619980 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ... |
OMIM:612562 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Mitral regurgitation, Short phil... |
OMIM:301039 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Abnormality of the dentition, Micrognathia, Sterile abscess, Spinal canal stenosis,... |
OMIM:618282 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Leukocyto... |
ORPHA:20 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Short neck, Decreased circulating T4 concentration, Cryptorchidis... |
OMIM:608104 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Hypothyroidism, Dental malocclusion, Wide m... |
OMIM:610883 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... |
OMIM:614294 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Atria... |
OMIM:618330 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... |
OMIM:208900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Tricuspid regurgitation, Ventricular septal defect, Micromelia, Hyperlordosis,... |
OMIM:618870 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prol... |
ORPHA:2396 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa... |
ORPHA:2345 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Intracrani... |
ORPHA:85212 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Short neck... |
OMIM:615583 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Branchial anomaly, Intrahepatic bil... |
ORPHA:1296 |
Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Short neck, Micrognathia,... |
ORPHA:96334 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Cryptorchidism, Microv... |
OMIM:610198 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Emanuel Syndrome |
|
Redundant neck skin, Dental crowding, Micrognathia, High palate, Atrial septal defect, Bifid uvul... |
ORPHA:96170 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Cleft palate, Narrow mouth |
ORPHA:2901 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Progeroid facial appearance, Kyphoscoliosis... |
ORPHA:2962 |
Asbestos Intoxication |
|
Cyanosis, Right ventricular failure, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial fibro... |
ORPHA:2302 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Micrognathia, Hepatic melanin-... |
OMIM:208085 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... |
OMIM:217085 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur... |
OMIM:601808 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Dental crowding, Abnormality of the dentition, Micrognathia, Hypoplasia of ... |
ORPHA:776 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Short 5th finger, A... |
ORPHA:52056 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Lymphadenopathy, Hypoxemia, Hypertension, Reduced hematocrit |
ORPHA:79126 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Transient ischemic attack, Eosinophilia, Abnormal pericardium ... |
ORPHA:183 |
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 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Fused teeth, High palate, Atrial septal defect, Malrotation of col... |
ORPHA:93932 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Leukocytosis, Dehydration, Hypertension, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, High ... |
OMIM:618142 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... |
OMIM:619472 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Hyposegmentation of neutrop... |
OMIM:620075 |
8p23.1 deletion syndrome |
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Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Noonan Syndrome 4 |
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Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Wide mouth, Thick ver... |
OMIM:610733 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cyanosis, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pu... |
ORPHA:555874 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
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Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Deep philtrum, Patent ductus art... |
ORPHA:397709 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Noonan Syndrome 8 |
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Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut... |
OMIM:615355 |
Brachytelephalangic Chondrodysplasia Punctata |
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Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... |
ORPHA:79345 |
Pearson Syndrome |
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Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Small for g... |
ORPHA:699 |
Chromosome 9P Deletion Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Short neck, Micrognathia, High, narrow palat... |
OMIM:158170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Asplenia, Cleft hard palate, Short... |
ORPHA:261537 |
Dystonia 1, Torsion, Autosomal Dominant |
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Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis |
OMIM:128100 |
Indomethacin Embryofetopathy |
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Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Atrial septal defect, Abnormal cerebral vascular morphology, Micromelia, Vascular dilatation, Pre... |
ORPHA:2637 |
Afibrinogenemia, Congenital |
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Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrha... |
OMIM:202400 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Asplenia, Cleft hard palate, Short... |
ORPHA:261552 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Pallor |
ORPHA:2786 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Pancre... |
OMIM:602782 |
Feingold Syndrome 2 |
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Ventricular septal defect |
OMIM:614326 |
Suleiman-El-Hattab Syndrome |
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Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick low... |
OMIM:618950 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Hematochezia, Anemic pallor, Anemia, Edema |
ORPHA:329971 |
15Q11.2 Microdeletion Syndrome |
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Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
Gaucher Disease, Type Ii |
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Hepatomegaly, Death in infancy, Double aortic arch, Splenomegaly, Trismus, Anemia, Thrombocytopenia |
OMIM:230900 |
Diamond-Blackfan Anemia 4 |
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Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Ritscher-Schinzel Syndrome 2 |
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Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... |
OMIM:300963 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Left-to-right shunt, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velop... |
ORPHA:363444 |
Pulmonary Capillary Hemangiomatosis |
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Cyanosis, Right ventricular failure, Pericardial effusion, Mediastinal lymphadenopathy, Diffuse a... |
ORPHA:199241 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Thin upper lip vermilion, Pancytopenia, Atrial septal defect, Hepatomegaly, Dextrocardia, Megalob... |
OMIM:277380 |
Atrial Septal Defect, Ostium Secundum Type |
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Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Contractural Arachnodactyly, Congenital |
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Congenital kyphoscoliosis, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Shor... |
OMIM:121050 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Asplenia, Cleft hard palate, Widel... |
ORPHA:2152 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... |
ORPHA:329224 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a... |
ORPHA:2001 |
46,Xx Sex Reversal 5 |
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Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Oculoauriculofrontonasal Syndrome |
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Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Scoliosis, Narro... |
ORPHA:398156 |
Lessel-Kreienkamp Syndrome |
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Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, P... |
OMIM:619149 |
Timothy Syndrome |
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Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothy... |
OMIM:601005 |
Sifrim-Hitz-Weiss Syndrome |
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Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Teebi Hypertelorism Syndrome 1 |
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Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Micrognathia, ... |
OMIM:145420 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Autosomal Recessive Robinow Syndrome |
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Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Pallister-Hall Syndrome |
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Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atrioventricular block, Ab... |
ORPHA:371428 |
Loeys-Dietz Syndrome 5 |
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Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Ventricular septal defect, Cleft... |
OMIM:615582 |
Noonan Syndrome 10 |
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Ventricular septal defect, Short neck, Cryptorchidism, Increased nuchal translucency, Patent duct... |
OMIM:616564 |
Trisomy 13 |
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Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Leber Congenital Amaurosis 14 |
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Pallor |
OMIM:613341 |
Diamond-Blackfan Anemia 10 |
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Macrocytic anemia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Reticulocyt... |
OMIM:613309 |
Burn-Mckeown Syndrome |
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Mandibular prognathia, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Th... |
OMIM:608572 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post... |
ORPHA:75389 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Thin upper lip vermilion, Atrial septal defect, Dental crowding, Ventricular septal defect, Micro... |
OMIM:309520 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Ventricular hypertrophy, Long philtrum, Atrial septal defect, Pulmonary arterial hypertension, Te... |
OMIM:300887 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... |
OMIM:619705 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Coffin-Siris Syndrome 6 |
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Kyphoscoliosis, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, A... |
OMIM:617808 |
Idiopathic Hypereosinophilic Syndrome |
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Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomeno... |
ORPHA:3260 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Fanconi Anemia, Complementation Group I |
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Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Abs... |
OMIM:609053 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Prune Belly Syndrome |
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Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Vert... |
ORPHA:2970 |
Robinow Syndrome |
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Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac... |
ORPHA:97360 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Short distal phalanx of toe, Atrial septal defect, Micrognathia, Precocious puberty, Delayed erup... |
OMIM:619356 |
Juvenile Polyposis Of Infancy |
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Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, High, narrow palate, Rectal ... |
ORPHA:79076 |
Lateral Meningocele Syndrome |
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Vertebral fusion, Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Short neck, ... |
OMIM:130720 |
Oculofaciocardiodental Syndrome |
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Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... |
ORPHA:2712 |
16P12.1P12.3 Triplication Syndrome |
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Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig... |
ORPHA:485405 |
Acrocardiofacial Syndrome |
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Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Cleft upper lip, C... |
ORPHA:2008 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, Kyphosis, Pat... |
OMIM:617061 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar... |
OMIM:220500 |
Thrombocytopenia-Absent Radius Syndrome |
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Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Death in infancy, ... |
OMIM:274000 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Zechi-Ceide Syndrome |
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Mandibular prognathia, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Down... |
ORPHA:217017 |
Cardioacrofacial Dysplasia 1 |
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Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... |
OMIM:619142 |
Ciliary Dyskinesia, Primary, 39 |
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Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Leukemia, Cutis marmorata, Ventricular septal defect, Smooth philtrum |
OMIM:602501 |
Congenital Myopathy 11 |
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Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Tetraamelia Syndrome 1 |
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Cleft upper lip, Asplenia, Micrognathia, Cleft palate, Adrenal gland agenesis, Tetraamelia, Anal ... |
OMIM:273395 |
8Q12 Microduplication Syndrome |
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Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:228399 |
Non-Functioning Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Malar flattening, Cleft u... |
OMIM:612582 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:618469 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductu... |
ORPHA:500159 |
Microcephaly-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Hutchinson-Gilford Progeria Syndrome |
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Prominent superficial blood vessels, Short lingual frenulum, Dental crowding, Myocardial infarcti... |
ORPHA:740 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... |
OMIM:614921 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Even-Plus Syndrome |
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Short neck, Vertebral clefting, Coronal cleft vertebrae, High palate, Hypodontia, Atrial septal d... |
OMIM:616854 |
Insulin-Like Growth Factor I, Resistance To |
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Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Diabetes mellitus, Ventricular sep... |
OMIM:270450 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial septal ... |
OMIM:615279 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus, Short ... |
OMIM:601355 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Hepatomegaly, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Megarectum, Abnorma... |
OMIM:301056 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Cryptorchidism, Patent duct... |
OMIM:617516 |
19P13.12 Microdeletion Syndrome |
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Short palm, Aortic regurgitation, Ventricular septal defect, Short neck, Precocious puberty, Cryp... |
ORPHA:254346 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Gm1 Gangliosidosis |
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Mandibular prognathia, Ventricular septal defect, Hyperlordosis, Splenomegaly, Patent ductus arte... |
ORPHA:354 |
Noonan Syndrome 11 |
|
Thick vermilion border, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect, Hypertr... |
OMIM:618499 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... |
ORPHA:391487 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect,... |
ORPHA:1908 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage, Thrombocytopenia |
ORPHA:49566 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Cleft palat... |
OMIM:615102 |
Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Short toe, Cleft palate, Atrial septal defect, Malar flattening, Abnormal palate ... |
ORPHA:921 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Hypomandibular Faciocranial Dysostosis |
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Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... |
OMIM:241310 |
Frontoocular Syndrome |
|
Micrognathia, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect |
OMIM:605321 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Kyphoscoliosis, Patent ductus arteriosus, Limb undergrowth, High palate, Neutropenia, Atrial sept... |
OMIM:618005 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Short neck, Cleft ... |
OMIM:617925 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... |
OMIM:615009 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Leukopenia, Thoracic kyphosis, Atrial septal defect, Patent foramen ovale, Tricuspid ... |
ORPHA:505248 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... |
OMIM:603467 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Micrognathia, Thrombocytopenia, Cryptorchidism, Dilated cardiomyopathy... |
ORPHA:261250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dilation of Virchow-Robin spa... |
OMIM:300998 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Torticollis, Ventricular septal defect, High, nar... |
ORPHA:276432 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... |
OMIM:180849 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short palm, Atrial sep... |
OMIM:235510 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Micrognathia, ... |
ORPHA:452 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... |
OMIM:618021 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Protruding tongue, Short neck, Splenomegaly, Secundum atrial sept... |
OMIM:608779 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Dental crowding, Abnormal... |
ORPHA:230851 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W... |
OMIM:616559 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, H... |
ORPHA:453499 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Short neck, Downturned corners of mouth, Pla... |
ORPHA:93267 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Microdontia, Hypo... |
OMIM:620005 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, H... |
OMIM:617452 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Micromelia, Short neck, Cleft ma... |
ORPHA:508488 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Leukocytosis, Cyanosis, Tachycardia |
ORPHA:330012 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Hypoplasia of the maxilla, Narrow mouth, Atrial septal defect, Ma... |
ORPHA:261295 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:610759 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Maternal diabetes, Cyanosis... |
ORPHA:1199 |
Temple-Baraitser Syndrome |
|
Downturned corners of mouth, Wide mouth, Thick vermilion border, Pulmonic stenosis, Long philtrum... |
OMIM:611816 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Micrognathia, Short neck, Short thumb, Short 5th finger, Long philtrum, Patent forame... |
OMIM:618821 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Eryth... |
ORPHA:343 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Ventricular septal defect... |
ORPHA:137675 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Noonan Syndrome 13 |
|
Atrial septal defect, Short neck, Micrognathia, Cryptorchidism, Low posterior hairline, Wide mout... |
OMIM:619087 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... |
OMIM:619542 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Cleft upper li... |
OMIM:610443 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypothyroidism, Iro... |
ORPHA:1667 |
Sandifer Syndrome |
|
Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Spina bifida occ... |
OMIM:135500 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... |
OMIM:612863 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Dilation of Virchow-R... |
OMIM:619720 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anal atresia, Narrow mouth |
ORPHA:3469 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short neck, Cleft upper lip, Cryptorchidism, P... |
OMIM:244300 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
Microphthalmia, Syndromic 2 |
|
Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Bifid uvula, Persistence of prima... |
OMIM:300166 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... |
OMIM:603909 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ... |
ORPHA:261190 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect |
OMIM:223350 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... |
ORPHA:1923 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Micrognathia, Downturned corners of mouth, Hypoplasia ... |
OMIM:264090 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto... |
ORPHA:404440 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Opitz Gbbb Syndrome |
|
Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Patent foramen ov... |
ORPHA:2745 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Short hallux, Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Vici Syndrome |
|
Atrial septal defect, Everted upper lip vermilion, Median cleft lip, Left ventricular hypertrophy... |
OMIM:242840 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hepatomegaly, Ham... |
OMIM:269860 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hyperten... |
OMIM:613870 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Micrognathia, A... |
OMIM:115470 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, H... |
ORPHA:505237 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent aphthous stomatitis, Recurr... |
OMIM:614868 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Short neck, Cryptorchidism, Wide mouth, Thick vermilion border, Pulmonic s... |
OMIM:611553 |
Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Pulmonic... |
OMIM:618205 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Kyphoscoliosis, Cleft palate, Lobulated tongu... |
OMIM:614815 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Maternal diabetes, Large placenta, Pate... |
ORPHA:1708 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Supernumerary nipple, Micrognathia... |
OMIM:619951 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Orofacial cleft, Cholestasis, Hepatic fibr... |
OMIM:615630 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Precocious atherosclerosis, Micrognathia, Premature graying of hair,... |
ORPHA:280365 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ... |
OMIM:617168 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... |
ORPHA:227982 |
Sotos Syndrome |
|
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, High, narrow palate, Pate... |
OMIM:117550 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short nec... |
ORPHA:1655 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... |
ORPHA:227990 |
Tetrasomy 9P |
|
Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners of mouth, High pal... |
ORPHA:3310 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... |
ORPHA:2847 |
Poems Syndrome |
|
Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrine system, Pri... |
ORPHA:2905 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum... |
OMIM:300855 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... |
ORPHA:3320 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Dental crowding, Ventricular septal defect, Micrognathia, Cryptorchidism, Pier... |
OMIM:617201 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Short thumb, Cleft palate, Glossoptos... |
ORPHA:436003 |
Filippi Syndrome |
|
Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Mic... |
OMIM:272440 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Neonatal death |
OMIM:613730 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Coarctation of aorta... |
OMIM:300867 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Atr... |
OMIM:163950 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Short neck, Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spa... |
OMIM:613610 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morp... |
ORPHA:369891 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... |
ORPHA:476126 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Increased nuchal translucency, Patent ductus ar... |
ORPHA:2655 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular s... |
OMIM:612474 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cryptorchidism, Heart murmur, Abnormal heart morphology, Short finger, Acrocyanosis, Decreased te... |
ORPHA:1867 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
Tarp Syndrome |
|
Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, T... |
OMIM:311900 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism, Scoliosis, Long philtrum |
ORPHA:466926 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Pulmonary arterial hyperte... |
OMIM:616028 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, P... |
OMIM:605130 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:619314 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi... |
OMIM:614816 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect |
OMIM:615981 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Heart block, Cryptor... |
OMIM:617063 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Short neck, Splenomegaly, Le... |
OMIM:615673 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Kyphosis, Increased nuchal translucency, Patent ductus arteriosus, Pla... |
ORPHA:93274 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Thin upper lip vermilion, Branchial fistula, Aortic regurgitation, Ventricular septal... |
ORPHA:261330 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Pat... |
ORPHA:141127 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:617397 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Open mouth, Ventricular septal defect |
OMIM:616816 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Micrognathia, High palate, Bifid uvula, Telangiectases of the cheeks, ... |
OMIM:208050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricular septal de... |
ORPHA:464738 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, Decreased response to growth ... |
ORPHA:1896 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Ventricular septal defect, Cervical kyphosis, Cleft upper lip... |
OMIM:150250 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal... |
OMIM:615879 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... |
OMIM:609192 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, Short neck, Micrognathia, ... |
ORPHA:2789 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess |
OMIM:241600 |
Tetrasomy 5P |
|
Redundant neck skin, Cyanosis, Short hallux, Short neck, Micrognathia, Congestive heart failure, ... |
ORPHA:3309 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Coffin-Siris Syndrome 5 |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Short philtrum, Atrial septal de... |
OMIM:616938 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Fanconi Anemia |
|
Micrognathia, Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Abnormalit... |
ORPHA:84 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic... |
OMIM:106260 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Leukocytosis, Neutrophilia, Cyanosis |
ORPHA:1302 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Hypothyroidism, Pa... |
ORPHA:293939 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... |
ORPHA:2519 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Cleft upper lip, Cle... |
OMIM:609654 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermil... |
OMIM:619184 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long philtrum, Abnormality of the anus, Death ... |
ORPHA:2308 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Alazami Syndrome |
|
Cutis marmorata, Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Scolios... |
ORPHA:319671 |
Megalencephaly |
|
Macroorchidism, Atrial septal defect, Short neck |
ORPHA:2477 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Torticollis, Sacral dimple, Macrodontia, High, narrow palate, Small han... |
OMIM:617694 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Thickened nuchal skin fold, Micrognathia, Cyanotic episode, Short neck |
ORPHA:284417 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Precocious pu... |
ORPHA:447980 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Micrognathia, Non-midline cleft lip, Cleft palate... |
ORPHA:1915 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:363528 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Widely spaced teeth, Short philt... |
OMIM:300967 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, High palate, Coronary-pulmonary artery fistula, Micrognathia |
OMIM:619699 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hyperlordosis, High, narrow palate, Facial hyperostosis,... |
ORPHA:2780 |
Hajdu-Cheney Syndrome |
|
Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Periodontitis, Par... |
ORPHA:955 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, High palate, Short philtrum, Hypog... |
ORPHA:3306 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Accessory oral frenulum, Hypoplasia of teeth, Mitral regurgitation, Scoliosis, Restrictive cardio... |
ORPHA:88630 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Tented upper lip vermilion, Congestive heart failure, Wide mouth, Atrial septal defect, Open mout... |
ORPHA:500533 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... |
ORPHA:99094 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Kyphosis, Cleft palate, Furrowed tongue, H... |
OMIM:616449 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal... |
ORPHA:353281 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin vermilion border, High ... |
OMIM:619869 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... |
OMIM:113000 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
Zaki Syndrome |
|
Sacral dimple, Micrognathia, Patent ductus arteriosus, Wide mouth, Median pseudocleft lip, High p... |
OMIM:619648 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension |
ORPHA:3222 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short neck, Cl... |
OMIM:300990 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Short neck, High, narrow palate, Vertebral segmentati... |
ORPHA:373 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Short neck, Micrognathia, Cryptorchidism, Patent ... |
OMIM:609625 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Abnormality of the dent... |
ORPHA:193 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Ret... |
ORPHA:79330 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... |
OMIM:619909 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Atrial septal defect, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Sho... |
OMIM:245600 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narro... |
ORPHA:1790 |
Holoprosencephaly |
|
Short neck, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, Abnormal form of the ve... |
ORPHA:2162 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Kyphosis, Patent du... |
OMIM:617190 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... |
OMIM:261740 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... |
OMIM:619143 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W... |
OMIM:617635 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladde... |
ORPHA:349 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Left superior vena cava draining to coronary ... |
OMIM:611961 |
Lymphatic Malformation 6 |
|
Micrognathia, Splenomegaly, Hydrocele testis, Varicose veins, Scoliosis, Webbed neck, Atrial sept... |
OMIM:616843 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Patent ductu... |
OMIM:600460 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Sacral dimple, Ventricular septal defect, Intestinal malrotation, Supernu... |
OMIM:605039 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis |
OMIM:619239 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital muscular torticollis, Bicuspid aortic valve, Ventricular sep... |
ORPHA:457279 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Crypt... |
OMIM:616331 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Abnormal dental morpholog... |
ORPHA:1458 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, High palate, Scoli... |
ORPHA:52055 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Tricus... |
OMIM:618460 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Ventric... |
OMIM:614866 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Atrial septal defect, Ventricular septal d... |
OMIM:614609 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Short proximal phalanx of the 5th finger, Sacral dimpl... |
ORPHA:261323 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Vascular dilatation, Pa... |
OMIM:606519 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Atrial septal defect, Patent ... |
OMIM:614261 |
Holoprosencephaly 1 |
|
Single ventricle, Diabetes insipidus, Adrenal hypoplasia, Median cleft lip and palate |
OMIM:236100 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Spondylolis... |
OMIM:613795 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... |
OMIM:612289 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Cyanosis, High palate, Scoliosis |
ORPHA:98913 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... |
OMIM:174300 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct... |
OMIM:613680 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... |
OMIM:610205 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... |
ORPHA:2256 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Bundle branch block, Kyphoscoliosis, Short neck, Delayed menarche, Cryptor... |
OMIM:151100 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Bicuspid aortic valve, Hypoplastic left heart, Scoliosis, Long philtrum, A... |
OMIM:619721 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... |
OMIM:139210 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Cardiomegaly, Short neck, Micrognathia, Cleft palate, Pla... |
OMIM:616897 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Cryptorch... |
OMIM:616368 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, High palate, Micromelia |
ORPHA:1035 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, High palate, Atrial septal defect, Patent foramen ovale, ... |
ORPHA:280633 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ... |
OMIM:250790 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Micrognathia, Increased nuchal translucency, Cleft pa... |
ORPHA:1052 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Abnormal vertebral morphology, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud p... |
ORPHA:51 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Mitral stenosis, Ventricular septal defect, Cryptorchidism... |
ORPHA:163956 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventri... |
OMIM:236680 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, M... |
OMIM:211750 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... |
OMIM:619326 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Anterior concavity of t... |
OMIM:249420 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Sacral dimple, Dental crowding, Ventricular septal defect, Supernume... |
OMIM:257920 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... |
OMIM:301043 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bodi... |
OMIM:244450 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso... |
OMIM:602535 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Sudden cardiac death, Situs inversus totalis, Abno... |
ORPHA:991 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Cutis marmorata, Micrognathia, Secundum atrial septal defect, Erythroid hyp... |
OMIM:620072 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Secundum atrial septal defect, Congestive heart failure, Patent ductus arterio... |
OMIM:616866 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... |
OMIM:616652 |
Myasthenia Gravis |
|
Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary adrenal ins... |
ORPHA:589 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Ventricular septal d... |
ORPHA:79329 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
Carpenter Syndrome 2 |
|
Dextrocardia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arter... |
OMIM:614976 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Short neck, Rectal atresia, Hypoplasia of the thymus, Narrow mouth, Anal ... |
OMIM:617666 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Micrognathia, Hyperlordosis, Mitral valve prolapse, Wide mouth, Thick vermilion border, High pala... |
OMIM:300986 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ... |
OMIM:300472 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... |
OMIM:227645 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... |
OMIM:612530 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Low posterior hai... |
ORPHA:85194 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Poor wound healing, Narrow mouth, Mitral valve prolapse, Mitral regurgitation, H... |
OMIM:615539 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Diabetes insipidus, Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thic... |
OMIM:611087 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Sacral dimple, Abnormality of thyroid physiology, Abnormality of the dentition, ... |
OMIM:300968 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Atrial septal defect, Long philt... |
OMIM:117650 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cleft li... |
OMIM:618454 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Recurrent sinusitis, Pulmonary arterial hyp... |
ORPHA:85202 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Redundant neck skin, Short lingual frenulum, Vent... |
OMIM:617360 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Patellar hypoplasia, Pulmonary arterial hypertension, Wi... |
ORPHA:261279 |
White Forelock With Malformations |
|
Atrial septal defect, Deep philtrum, Spina bifida occulta, Abnormal palate morphology |
ORPHA:2475 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Splenomegaly, Micro... |
OMIM:619418 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... |
OMIM:222470 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Coarctation of aorta, Abnormal heart... |
ORPHA:2209 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Splenomegaly, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal oral mucosa ... |
ORPHA:289 |
Restrictive Dermopathy |
|
Natal tooth, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arterio... |
ORPHA:1662 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Increased nuchal translucency, Varicose veins, Atrial septal defect, Anemia |
OMIM:617300 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Ventricular septal defect, Cutis... |
ORPHA:96121 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Micromelia, Abnormal sacroiliac joint morphology, Increased nuchal translucency, Pat... |
ORPHA:1860 |
Fryns Syndrome |
|
Tented upper lip vermilion, Ectopic pancreatic tissue, Short neck, Atrial septal defect, Microret... |
OMIM:229850 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long... |
OMIM:618529 |
White-Sutton Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Patent ductus arteriosus, Cleft palate, Hypoplas... |
OMIM:616364 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Kyphoscoliosis, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft... |
OMIM:618348 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Sp... |
OMIM:300373 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno... |
OMIM:614300 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidism, Malar flat... |
OMIM:218350 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Absent cupid's bow, Abnorma... |
ORPHA:513456 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
2Q31.1 Microdeletion Syndrome |
|
Short palm, Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Deep philtrum, K... |
ORPHA:251014 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... |
OMIM:301030 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:616730 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Premature graying of hair, High... |
ORPHA:769 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Dou... |
OMIM:614886 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Submucous cleft hard palate, Spinal dysraphism, Aortic valve stenosis, Hyp... |
OMIM:617660 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Micrognathia, Long neck, Cleft lip, Cryptorchidism, ... |
ORPHA:1724 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Atrial septal defect, Exaggerated median tongue furrow, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:312870 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Small ... |
OMIM:617450 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature the... |
OMIM:147920 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Bile duct proli... |
OMIM:611134 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Crypto... |
ORPHA:77298 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Scoliosis, Umbilical ... |
OMIM:617751 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Acrocyanosis, Tented upper lip vermilion |
ORPHA:896 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal def... |
ORPHA:79113 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis |
ORPHA:348 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Micrognathia, Atrial septal defect, Abnormal vertebra... |
ORPHA:536471 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Short 4th metacarpal |
OMIM:113301 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate, Broad alveolar ridges |
OMIM:314320 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Micrognathia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Abnormal a... |
ORPHA:261197 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal vertebra... |
ORPHA:217085 |
Fumarase Deficiency |
|
Polyhydramnios, Intrahepatic cholestasis, Ascites, Pallor, Hepatic failure, Polycythemia |
OMIM:606812 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Dental malocclusion, Alveola... |
ORPHA:444072 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Malabsorpt... |
ORPHA:912 |
Mosaic Trisomy 1 |
|
Microretrognathia, Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Increased nuc... |
ORPHA:1692 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, Ventricular septal defect, High palate |
ORPHA:3369 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Increased size of nasopharyngeal... |
ORPHA:457395 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Sh... |
OMIM:620073 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short neck, Micrognathia, Cryptorchidism, Triangular mouth, Cleft palate, Short sternum, Pulmonic... |
OMIM:257300 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricula... |
ORPHA:79328 |
Kury-Isidor Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Wi... |
OMIM:619762 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Reduc... |
ORPHA:79284 |
Degcags Syndrome |
|
Micrognathia, Premature graying of hair, Leukopenia, Iron deficiency anemia, High palate, Atrial ... |
OMIM:619488 |
Cog1-Cdg |
|
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short nec... |
ORPHA:263508 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Hepatomegaly, Intestinal malrotation, Aplastic clavicle, Hiatus ... |
ORPHA:2538 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Hypertensive crisis, Edema, Myocarditis, Leukocytosis, Hypertens... |
ORPHA:544482 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Mi... |
OMIM:620025 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thora... |
ORPHA:508498 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Thick vermilion border, High palate, Short s... |
OMIM:620113 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft uppe... |
OMIM:100300 |
Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic scapulae, Rhizomelia, Short neck, Narrow mouth, Small hand, Cleft palate,... |
OMIM:228520 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Heart murmur, Widely spa... |
ORPHA:2728 |
Noonan Syndrome 7 |
|
Short neck, Low posterior hairline, Thick vermilion border, Pulmonic stenosis, Webbed neck, Atria... |
OMIM:613706 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect, Aplastic anemia, Short neck |
OMIM:610832 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal vertebra... |
ORPHA:217093 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Micrognathia, Atrial septal defect, Hepatic steatosis, Bifid uvula, ... |
OMIM:270400 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Kyphosis, Patent ductus arteriosus, Tet... |
OMIM:153400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... |
ORPHA:293978 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts |
OMIM:263630 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Abnorma... |
ORPHA:3071 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Micromelia |
ORPHA:2772 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Decreased response to growth hormone stimulation test, Supernume... |
OMIM:213980 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Ventricular septal defect, Micrognathia, Death in childhood |
OMIM:616901 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, Precocious pu... |
OMIM:619312 |
Desbuquois Syndrome |
|
Small hand, Ventricular septal defect, Scoliosis, Short neck |
ORPHA:1425 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353277 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Precocious... |
ORPHA:369837 |
Trisomy 1Q |
|
Microretrognathia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Increased... |
ORPHA:261344 |
Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Short neck, Cleft palate, Hypoplastic vertebral bodies, Cor... |
ORPHA:2347 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:620211 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Ventricular septal defect, Lumbar hyperlord... |
ORPHA:251028 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Tented upper lip vermilion, Thick vermilion border, High palate, Scoliosis, Long ph... |
OMIM:619383 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... |
ORPHA:177907 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... |
ORPHA:881 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Neonatal death, Pulmonary arterial hypertension, Misalignment of the ... |
OMIM:265120 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Pa... |
OMIM:600268 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Hydrocele testis, Mitral regurgitation, Neonatal death, Long philtrum, ... |
OMIM:620244 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Splenomegaly, Concentric hypertrophic cardiomyopathy, T... |
OMIM:252010 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Micrognathia, Thyroid agenesis... |
ORPHA:3047 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Swollen lip, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... |
OMIM:256520 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Meningocele, Cleft palate, ... |
OMIM:614424 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narr... |
OMIM:202650 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Micrognathia |
OMIM:616777 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Ventricular septal defect, Aplasia of ... |
OMIM:142900 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Abnormality of the dentition, Micrognathia, Cryptorchidism, P... |
OMIM:617557 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Short clavicles |
OMIM:619793 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Con... |
OMIM:608328 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Thick lower lip vermi... |
OMIM:618027 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Subvalvular aortic stenosis, Atri... |
OMIM:613001 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Dental crowding, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus,... |
OMIM:618268 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Hypothyroidism |
OMIM:301058 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short metacarpal, Ventricular septal defect, Micrognathia, Abnormality of the endocrine system, C... |
ORPHA:166035 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Wi... |
ORPHA:466791 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Nar... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Nar... |
ORPHA:98914 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... |
ORPHA:26793 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... |
ORPHA:2328 |
Al-Raqad Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Narrow mouth |
OMIM:616459 |
Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... |
OMIM:618354 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Poor wound healing, Arterial rupture, Scoliosis, Atrial septal defect, Bruising susceptibility |
OMIM:619115 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Nar... |
ORPHA:96097 |
Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Micrognathia, Patent ductus arteriosus, Cleft palate, Hydrocele testis, Thin vermi... |
OMIM:614080 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Cryptorchidism, Patent ductus a... |
OMIM:607143 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft... |
ORPHA:2473 |
Distal Deletion 6P |
|
Abnormality of the dentition, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short f... |
ORPHA:96125 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Prominent superficial veins, Tricuspi... |
OMIM:617402 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Kyphoscoliosis, Short neck, Micrognathia, Cryp... |
OMIM:102500 |
Adenohypophysitis |
|
Normochromic anemia, Pallor, Orthostatic hypotension |
ORPHA:95512 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Patent ductus arteriosus, High palate, ... |
OMIM:618162 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Atrial septal defect, Aortic valve s... |
ORPHA:459061 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, High, narrow palate, Downturned corners of mouth, Widely sp... |
OMIM:122470 |
Distal Deletion 10Q |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Micrognathia, Patent ductus arteriosus, Short met... |
ORPHA:96148 |
Huntington Disease-Like 1 |
|
Abnormal posturing |
ORPHA:157941 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Cutis marmorata, Wide mouth, High palate, Tetralogy of Fallot |
OMIM:613398 |
7Q31 Microdeletion Syndrome |
|
Torticollis, Hypoplasia of the maxilla, Patent ductus arteriosus after birth at term, Wide mouth,... |
ORPHA:251061 |
X Small Rings |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Upper lim... |
ORPHA:96201 |
Smith-Lemli-Opitz Syndrome |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect, Advanced e... |
ORPHA:818 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Abnor... |
OMIM:154400 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Cleft palate, High palate, R... |
OMIM:617164 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... |
OMIM:225500 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Adrenal gland agen... |
OMIM:611812 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Microcytic anemia, Micrognathia, Sple... |
OMIM:619525 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Irregularity of vertebral bodies, Abnormal heart valve morphology, Abnormal pulmona... |
ORPHA:580 |
Aase-Smith Syndrome I |
|
Death in infancy, Open mouth, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Atrial ... |
OMIM:610536 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Thick lower lip vermilion, Atrioventricular block, Bradycardia, Long philtrum, Acrocyanosis |
OMIM:614407 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonar... |
ORPHA:60025 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Microgna... |
OMIM:309500 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, Tetralogy of Fallot, High palate |
OMIM:222765 |
Hydrolethalus |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, ... |
ORPHA:2189 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Sacral dimple, Abnormality of the dentition, Cryp... |
ORPHA:363611 |
Alg12-Cdg |
|
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Intestinal malrotation, M... |
ORPHA:79324 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Rhizomelia, Short neck, Micrognathia, Cryptorchidism, P... |
OMIM:258315 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... |
ORPHA:268249 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Micrognathia... |
OMIM:613457 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Ad... |
OMIM:214100 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Pate... |
OMIM:619268 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Short philtrum, Death in childhood, Atrial septal defect, P... |
OMIM:210710 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Subm... |
OMIM:619103 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Sacral dimple, Tricuspid regurgitation, Ventricular sep... |
ORPHA:261337 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension |
ORPHA:70587 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Retrognathia, Scoliosis, Thrombocytopenia |
ORPHA:457351 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Abnormality of the dentition... |
OMIM:617140 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular s... |
OMIM:263520 |
Aneurysm-Osteoarthritis Syndrome |
|
High palate, Bifid uvula, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arteriosu... |
ORPHA:284984 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular septal defect, Nephrogenic diab... |
OMIM:613404 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... |
ORPHA:1071 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular fun... |
OMIM:619991 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum,... |
ORPHA:280 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio... |
OMIM:277600 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Panhypophysitis |
|
Normochromic anemia, Pallor, Orthostatic hypotension |
ORPHA:95513 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Pyloric stenosis, Missing ri... |
OMIM:147791 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... |
ORPHA:209905 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Cleft palate,... |
ORPHA:250999 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Thin vermilion border, Atria... |
OMIM:618109 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hepatoblastoma, C... |
ORPHA:1465 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Cryptorchi... |
OMIM:600373 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke |
ORPHA:268943 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Ventricular septal de... |
OMIM:613458 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Hepatocellular carci... |
OMIM:118450 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Short metacarpal, Bicuspid aortic valve, Ventricular septal defect, Kyphoscolio... |
OMIM:271640 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Diabetes mellitus, Micrognathia, Secundum atrial septal defect, High palate, Hyperplasia of the m... |
OMIM:620194 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth... |
OMIM:194190 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Rectal prolapse, Ecchymosis, Acrocyanosis, Prematurel... |
ORPHA:287 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Pallor, Anemia of inadequate production |
ORPHA:91349 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Poly... |
ORPHA:1770 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal heart morphology, Scoliosis |
ORPHA:494344 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Missing ribs, Anteriorly placed anus, Scoliosis, Umbilical hernia, Mal... |
ORPHA:1488 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Prot... |
OMIM:212066 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Anal stenosis, Short humerus, Aganglionic megacolon, Ventricular septal d... |
OMIM:607323 |
Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Patent foramen ovale, Death in childhood, Hypertrophic cardiomyopathy, Hepatic stea... |
OMIM:614582 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Secundum atrial septal defect, Downturned corners of mouth, Short philt... |
OMIM:619121 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Ventric... |
OMIM:134780 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Kyphoscoliosis, Bilateral cryptorch... |
OMIM:617403 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Cutis marmorata, Secundum atrial septal defect, Wide mouth, Short foot, Hypertension, Median pseu... |
OMIM:619758 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cr... |
ORPHA:261236 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Sacral dimple, Ventricular se... |
ORPHA:459070 |
Trichothiodystrophy |
|
Ventricular septal defect, Prematurely aged appearance, Hypoplasia of mandible relative to maxill... |
ORPHA:33364 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Micrognathia, Kyphosis, Myelomeningoce... |
ORPHA:1393 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Block vertebrae, Cleft upper lip, Hypoplasia ... |
OMIM:164210 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Short neck, Cryptorchidism, Submucous cleft hard palate, Low pos... |
ORPHA:1340 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Death in infancy, Short neck, Micrognathia, Microvesicular he... |
OMIM:300868 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Desmosterolosis |
|
Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Submucous cleft hard palate, Anom... |
ORPHA:35107 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t... |
OMIM:618371 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Elevated hemoglobin A1c, Proge... |
OMIM:619127 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Paten... |
OMIM:617088 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, L... |
OMIM:619306 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis |
ORPHA:91359 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Ectode... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Ectode... |
ORPHA:363958 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Pulmonic stenosis, Webbed neck, Umbilical hernia, Retrognath... |
OMIM:618914 |
Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:192350 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Abnormality of the liver, Vertebral s... |
ORPHA:2911 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation |
OMIM:615476 |
Frontometaphyseal Dysplasia 2 |
|
Short metacarpal, Bicuspid aortic valve, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, ... |
OMIM:617137 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Cryptorchi... |
ORPHA:438213 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short ... |
ORPHA:1519 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Secundum atrial septal ... |
OMIM:609069 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Anemia |
ORPHA:667 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the neck, Abnormality of the liver, Hypothyroidism, Hep... |
ORPHA:1606 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Hypopla... |
OMIM:143095 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Ver... |
OMIM:164200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Arthrogryposis, Distal, Type 3 |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula |
OMIM:114300 |
Marfan Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Open bite, Dilatation of an abdominal artery,... |
ORPHA:558 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus, Hypodontia, Microdontia, Malar flattening |
OMIM:602482 |
Bent Bone Dysplasia Syndrome 2 |
|
Thickened nuchal skin fold, Hepatomegaly, Short neck, Coronal cleft vertebrae, Platyspondyly, Sho... |
OMIM:620076 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellula... |
OMIM:227646 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale, Scoliosis |
OMIM:614961 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cryptorchidism, Patent ductus arteriosus, Cleft soft palate |
ORPHA:2282 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Shortening of all... |
OMIM:614207 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... |
OMIM:136140 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Prematurely aged appearance, Poor wound healing,... |
OMIM:123700 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Abnormality of the dentition, Secundum atrial septal defect, Low posterior hairline, ... |
OMIM:615802 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Thin vermilion borde... |
ORPHA:217346 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of ... |
OMIM:615948 |
Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena... |
ORPHA:139466 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchidism, Kyphosis, Xeros... |
ORPHA:398069 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Hyperpl... |
OMIM:268300 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Adrenal hypoplasia, Micrognathia, Congenital ps... |
OMIM:275210 |
Distal Deletion 12Q |
|
Short neck, Micrognathia, High, narrow palate, Biliary atresia, Patent foramen ovale, Esophageal ... |
ORPHA:96149 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short distal phalanx of toe, Abnormal mitral valve morphology, Wide mouth, Long philtrum, Atrial ... |
ORPHA:1292 |
Limb-Mammary Syndrome |
|
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... |
ORPHA:69085 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Anteriorly placed anus, High... |
OMIM:618653 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, 11 pairs of ribs, Tented upper lip vermilion, Ventricular septal defect, D... |
ORPHA:488632 |
Joubert Syndrome 3 |
|
Atrial septal defect, Open mouth |
OMIM:608629 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclu... |
OMIM:606232 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing |
ORPHA:216866 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short neck, Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate, A... |
OMIM:609945 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Spina bifida, Esophageal atresia, Non-midline cleft... |
ORPHA:3380 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Micrognathia, Cleft lip, Patent ductus arteriosu... |
OMIM:616975 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, ... |
ORPHA:2369 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Ventricular septal defect, Short neck, Hemivertebrae, Cleft palate, Scoliosis, ... |
OMIM:178110 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:607598 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho... |
ORPHA:2710 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Small h... |
OMIM:619229 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hyperlordosis, Patent foramen... |
ORPHA:363700 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Aortic root aneurysm, Type II diabetes mellitus, Delayed puberty, At... |
OMIM:618891 |
Filippi Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi... |
ORPHA:3255 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Spina bifida occul... |
OMIM:135900 |
Focal Dermal Hypoplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida, Abnormality of the d... |
ORPHA:2092 |
Cree Mental Retardation Syndrome |
|
Cryptorchidism, Cleft soft palate |
OMIM:606851 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Shortening of all dis... |
OMIM:616202 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Ecchymosis, Long philtrum, Microretrognathia, Tricuspid regurg... |
OMIM:601776 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Short palm, Micrognathia, Cryptorchidism, Patellar aplasia, Long philt... |
ORPHA:85201 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Short neck, Cryptorchidism, Short met... |
ORPHA:2896 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Otopalatodigital Syndrome, Type Ii |
|
Short metacarpal, Spina bifida, Short neck, Micrognathia, Cryptorchidism, Short thumb, Malar flat... |
OMIM:304120 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... |
ORPHA:2729 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Short neck, Micrognathia, Hypoplasia of the maxilla... |
OMIM:261540 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo... |
OMIM:206900 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp... |
OMIM:300000 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida |
OMIM:207950 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Atrial septal defect, Dental crowding, Ventricular septal defect, Parti... |
OMIM:301044 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Narrow... |
ORPHA:1051 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Bifid uvula |
OMIM:108300 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Micrognathia, C... |
OMIM:619512 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Miscarriage, Short hallux, Short thumb, Deep philtrum, Shor... |
OMIM:245150 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Narrow mouth |
OMIM:164220 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Ventricular septal... |
ORPHA:2438 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistul... |
OMIM:300707 |
Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Atrial septal defect, Microdo... |
ORPHA:2044 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Orchitis, Raynaud phenom... |
ORPHA:48435 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate,... |
ORPHA:251038 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Atrial septal defect, Atrioventricula... |
ORPHA:672 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Webbed ... |
ORPHA:1439 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Cleft soft palate, Aortic rupture |
OMIM:614557 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Titubation |
ORPHA:225147 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Short neck, Micrognathia, Pyloric stenosis, Thick... |
OMIM:218040 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs, Long philtrum |
OMIM:617895 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Hypothyroidism, Patent... |
OMIM:607872 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Ventricular septal defect |
ORPHA:79243 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Micrognathia, Situs inversus totalis, Pyloric stenosis, ... |
ORPHA:2461 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Hypoplastic aortic arch, Scoliosis |
ORPHA:457284 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Hepatoblastoma, Short neck, Splenopancreatic fusion, Macroglossia, Hypop... |
OMIM:269150 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
8Q22.1 Microdeletion Syndrome |
|
Cryptorchidism, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ... |
OMIM:154500 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Absent circulating ... |
OMIM:307200 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio... |
ORPHA:416 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition, Low posterior hairline, ... |
OMIM:605822 |
Amish Lethal Microcephaly |
|
Cleft soft palate |
ORPHA:99742 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Thin upper lip vermilion, High palate, Smooth philtrum |
OMIM:620242 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Patent foramen ovale |
OMIM:618832 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis |
OMIM:261680 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, V... |
OMIM:235730 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Micrognathia |
ORPHA:3078 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mou... |
OMIM:272950 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Atrial septal defect, Mandibular prognathia, Ventric... |
OMIM:616268 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short ... |
ORPHA:464311 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Premature graying of hair, Early onset of sexual maturati... |
OMIM:194050 |
Myhre Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abnormal lip morpholog... |
ORPHA:2588 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Protruding tongue |
OMIM:619580 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Accessory oral frenulum, Short neck, Micromelia, Aplastic clavicle, Anenceph... |
OMIM:616546 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Gastritis, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Thin upper lip vermilion, Long philtrum |
OMIM:618665 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Short neck, Hypoplasia of... |
OMIM:609460 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Absent hand, Ectopic anus, Breast ap... |
ORPHA:3138 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Scoliosis, Long philtrum, Patent foramen ovale |
OMIM:619179 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Short neck, Cryptorchidism, High palate, Pulmoni... |
OMIM:607721 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality of... |
ORPHA:744 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Death in childhood, Atrial... |
OMIM:243800 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Native American Myopathy |
|
Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft pala... |
ORPHA:168572 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Micrognathia, Secundum atrial septal defect, Hyperten... |
ORPHA:2260 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Tented upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Scoliosis, Narrow mout... |
OMIM:618076 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Short... |
ORPHA:434179 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Dextro... |
OMIM:620305 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Monosomy 13Q34 |
|
Epistaxis, Micrognathia, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis |
ORPHA:96168 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... |
OMIM:259900 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Abnormal periodontium morphology, High palate, Atrial septal defect, Thoracolumbar scoliosis, Cys... |
ORPHA:480880 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchidism, P... |
ORPHA:464306 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:225250 |
Distal Deletion 19P |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... |
ORPHA:96129 |
Proximal Spinal Muscular Atrophy |
|
Thoracic kyphosis, Bradycardia, Tongue fasciculations, Scoliosis, Atrial septal defect |
ORPHA:70 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... |
OMIM:617107 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Atrial septal defect, Lumbar hyperlordosis, Transient ischemic attack, Kyphos... |
ORPHA:500150 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hype... |
OMIM:610505 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Aica-Ribosuria Due To Atic Deficiency |
|
Wide mouth, Thin upper lip vermilion, Secundum atrial septal defect |
OMIM:608688 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
Sotos Syndrome |
|
No permanent dentition, Atrial septal defect, Hypothyroidism, Abnormal vertebral morphology, Flus... |
ORPHA:821 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Median cleft lip, Monorchism, Abnormal oral mucosa morphology, High, n... |
ORPHA:2753 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, High palate, ... |
OMIM:614653 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal death, Death in infancy, Cyanosis, Hypoxemia |
OMIM:610921 |
Cornelia De Lange Syndrome |
|
Micromelia, Short neck, Micrognathia, Downturned corners of mouth, Widely spaced teeth, High pala... |
ORPHA:199 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorc... |
OMIM:613884 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd metacarpal, Aplasi... |
OMIM:181450 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Palpebral edema, Abnormal T cell subset distribution, B lymphocytopenia,... |
ORPHA:221139 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... |
ORPHA:83617 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic cardiomyopathy, An... |
ORPHA:506 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, High, narrow palate, Hematochezia, Short philtrum, Peripheral pulmonar... |
OMIM:619575 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,... |
OMIM:619841 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insufficiency, Abnormali... |
ORPHA:285 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Delayed eruption of teeth, Anal stenosis, Abnormality of neutrophils, Abnorma... |
ORPHA:235 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Anteriorly placed anus, Short palm, Atrial ... |
OMIM:601803 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... |
ORPHA:653 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column... |
OMIM:619475 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Short metacarpal, Cutis marmorata, Kyphosis, Rectal prolapse, Thick lower ... |
OMIM:303600 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Duode... |
OMIM:617798 |
Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... |
ORPHA:449395 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Short neck, Bilateral cry... |
OMIM:263650 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Brain abscess, Lung abscess, Cyanosis |
OMIM:610910 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short sternum, Umbilical hernia, Malar flattening |
OMIM:222448 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary vertebrae |
OMIM:263750 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatarsal, Sh... |
OMIM:216340 |
Neurofibromatosis-Noonan Syndrome |
|
Short neck, Secundum atrial septal defect, Cryptorchidism, Low posterior hairline, Thick vermilio... |
OMIM:601321 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short neck, Secundum atrial septal defect, Lymphangioma, Subarterial ventricular septal defect, A... |
ORPHA:99646 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Orthostatic hypotension, Hypogeusia, Hypertension, Scoliosis, Acrocyanosis |
OMIM:223900 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Ventricular septal defect, Micrognathia, Thick vermilion border, Short distal p... |
OMIM:250410 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, ... |
ORPHA:2331 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Leukocytosis, Downturned corners of mouth, Hypoplasia ... |
OMIM:619321 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... |
ORPHA:2250 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Malar flattening, Long philtrum |
OMIM:207410 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cl... |
ORPHA:1299 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplastic anemia, Carious teeth, Cryptorchidism, Velopharyngeal insuffi... |
OMIM:223370 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Celi... |
ORPHA:293987 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Wide mouth, Interrupted infe... |
OMIM:618846 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Carious teeth, Cryptorchidism, Patent ductus arteriosus, Short thumb, ... |
OMIM:619522 |
Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Aganglionic megacolon, Perianal erythema, Cryptorchidism, Cleft palate, Ectoder... |
OMIM:308205 |
Choanal Atresia |
|
Cyanosis, Chronic sinusitis |
ORPHA:137914 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Myocarditis, Short toe, Platyspondyly... |
OMIM:250220 |
Faciocardiomelic Syndrome |
|
Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Long philtrum, Com... |
OMIM:612731 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E... |
ORPHA:2671 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Short ribs |
OMIM:615503 |
3Q29 Microdeletion Syndrome |
|
Six lumbar vertebrae |
ORPHA:65286 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Hypertension, Scoliosis, Ac... |
ORPHA:1764 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Hypertension, Fused teeth, High palate, Short phi... |
OMIM:300896 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Scoliosis, Atrial septal defect, Smooth philtrum |
ORPHA:522077 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard ... |
OMIM:619325 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Small hand, Ven... |
OMIM:614947 |
Diphallia |
|
Atrial septal defect, Rectoperineal fistula, Absent thumb, Cryptorchidism, Hemivertebrae, Abnorma... |
ORPHA:227 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
Goodpasture Syndrome |
|
Pallor, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Abnormal pulmonary valve morphology, Cryptorchidism, Patent ductus arterio... |
ORPHA:857 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Abnormal paranasal sinus morphology... |
ORPHA:141099 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Pulmonary arterial hypertension, Cyanosis |
OMIM:610913 |
Ear-Patella-Short Stature Syndrome |
|
Cryptorchidism, High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion b... |
ORPHA:2554 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Leukemia, Thick vermilion border, Long philtrum |
ORPHA:2526 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Deep philtrum, Thin lower lip ver... |
OMIM:619194 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:506358 |
Doors Syndrome |
|
Thin upper lip vermilion, Adrenal hyperplasia, Short lingual frenulum, Abnormality of the dentiti... |
ORPHA:79500 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Abnormality of canine, Cryptorchidism, Short thum... |
ORPHA:477993 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, Cryptorchidism, High, narrow palate, Submucous cleft hard pala... |
ORPHA:2658 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Micrognathia, Cryptorchidism... |
OMIM:606170 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... |
OMIM:259770 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Increased intervertebral space, Thick lower lip vermilion, Platyspondy... |
OMIM:619727 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus, Chalazion, Scolio... |
OMIM:613355 |
Townes-Brocks Syndrome 1 |
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Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Short metatarsal... |
OMIM:107480 |
Wiedemann-Rautenstrauch Syndrome |
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Prominent scalp veins, Natal tooth, Thin upper lip vermilion, Decreased response to growth hormon... |
ORPHA:3455 |
Tolchin-Le Caignec Syndrome |
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Submucous cleft hard palate, High palate, Cardiac rhabdomyoma, Narrow mouth |
OMIM:618971 |
Renal Agenesis |
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Hypertension, Ventricular septal defect, Anal atresia |
ORPHA:411709 |
Campomelic Dysplasia |
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Irregular dentition, Carious teeth, Submucous cleft hard palate, Cleft palate, Abnormal heart mor... |
OMIM:114290 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Precocious puberty, Cleft palate, Short finger, Umbilical hernia |
ORPHA:1934 |
Neuroocular Syndrome |
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Sacral dimple, Patent foramen ovale, Short uvula, Submucous cleft hard palate, Downturned corners... |
OMIM:619539 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Short neck, High pala... |
OMIM:620330 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Cyanosis, Meconium ileus |
OMIM:617239 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Pallor |
OMIM:253280 |
Penile Agenesis |
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Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal f... |
ORPHA:49 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Cryptorchidism, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Bifid uvula |
ORPHA:2636 |