Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks, Eosinophilia |
OMIM:614323 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Generalized Eruptive Histiocytosis |
|
Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Peeling Skin Syndrome 1 |
|
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia |
OMIM:270300 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia, Vitiligo |
OMIM:615387 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d... |
OMIM:619825 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... |
OMIM:620070 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Hypocalcemia, Anemia |
ORPHA:100025 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... |
ORPHA:1166 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
OMIM:600001 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
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 |
Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... |
OMIM:612526 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... |
ORPHA:39041 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... |
ORPHA:79477 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... |
OMIM:304790 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... |
OMIM:619657 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Axillary freckling, Cafe-au-lait spot, Hypercalcemia |
OMIM:171420 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... |
OMIM:612422 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia, Abnormality of the frontal hairline |
ORPHA:557003 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Situs inversus totalis |
OMIM:617577 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia |
ORPHA:2591 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Stroke |
OMIM:615812 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia |
OMIM:256500 |
Roifman Syndrome |
|
Prominent eyelashes, Eosinophilia, Hyperconvex nail, Hepatosplenomegaly |
ORPHA:353298 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmonic stenosis, Atri... |
OMIM:220210 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Roifman Syndrome |
|
Splenomegaly, Prominent eyelashes, Eosinophilia |
OMIM:616651 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Sotos Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... |
OMIM:117550 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab... |
OMIM:308300 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Hypotelorism |
OMIM:218670 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Splenomegaly, Low anterior hairline, Low posterior hairline, Hypocalcemia |
OMIM:618440 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation o... |
ORPHA:1120 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Alopecia of scalp, B lymphocytopenia, Abnormal... |
OMIM:602450 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... |
OMIM:617388 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia |
ORPHA:172 |
Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... |
ORPHA:1926 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemi... |
OMIM:175500 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis |
OMIM:610205 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... |
OMIM:601808 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia, Hyperpigmentation of the skin |
ORPHA:293173 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased cir... |
ORPHA:95409 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:615355 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Hypocalcemia |
ORPHA:163693 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Micrognathia |
OMIM:616570 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonic stenosis |
OMIM:619433 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:228410 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Perim... |
ORPHA:508498 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... |
ORPHA:289601 |
Tangier Disease |
|
Accelerated atherosclerosis, Coronary artery stenosis, Left ventricular hypertrophy, Carotid arte... |
ORPHA:31150 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology |
ORPHA:1164 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Wide anterior fontanel, Micrognathia |
OMIM:619339 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Dystrophic fingernails, Eosinophilia |
ORPHA:2314 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Proptosis, Micrognathia |
OMIM:616171 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Hypopigmented skin patches, Anemia, Hypocalcemia... |
ORPHA:47 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... |
ORPHA:565612 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Alg12-Cdg |
|
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... |
ORPHA:79324 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Lobar holoprosencephaly, Hypertelorism |
ORPHA:2117 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... |
OMIM:614816 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Retrognathia |
ORPHA:2528 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
Cap Myopathy |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:171881 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... |
ORPHA:31824 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph... |
ORPHA:464 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta |
OMIM:616069 |
Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta |
OMIM:301022 |
Mmep Syndrome |
|
Mandibular prognathia, Microphthalmia |
ORPHA:3434 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Sparse axillary hair, Thiamine-responsive megalob... |
ORPHA:85138 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... |
OMIM:616564 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... |
ORPHA:381 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... |
ORPHA:363618 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... |
OMIM:612474 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
Frontonasal Dysplasia 1 |
|
Hypertelorism, Hypoplasia of the maxilla, Anterior basal encephalocele, Cranium bifidum occultum,... |
OMIM:136760 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:608779 |
8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic... |
ORPHA:251071 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... |
OMIM:208000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Ascending aortic dissection |
OMIM:620080 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Hypertelorism |
ORPHA:1617 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Abnormal heart morphology, Persistent left superior vena cava, Coarcta... |
OMIM:618494 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Wide anterior fontanel, Micrognathia, Hypertelorism |
OMIM:619135 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Otosclerosis 8 |
|
Otosclerosis |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis |
OMIM:608244 |
Monosomy 13Q34 |
|
Horizontal eyebrow, Hypercalcemia |
ORPHA:96168 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Retrognathia, Micrognathia |
OMIM:615524 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Pheochromocytoma |
|
Cafe-au-lait spot, Hypercalcemia |
OMIM:171300 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... |
OMIM:610168 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... |
ORPHA:3093 |
Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Wide anterior fontanel, Micrognathia, Hypertelorism |
ORPHA:163649 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:606003 |
Hydrolethalus |
|
Anophthalmia, Micrognathia, Hydrocephalus, Anencephaly, Deeply set eye, Microphthalmia, Retrognathia |
ORPHA:2189 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Vascular ring, Coarcta... |
OMIM:180849 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Synophrys, Hypercalcemia |
ORPHA:476126 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Pierpont Syndrome |
|
Microphthalmia, Deeply set eye, Hypertelorism |
ORPHA:487825 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia |
OMIM:613885 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Charge Syndrome |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... |
OMIM:214800 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Cofs Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:1466 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:614857 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Deeply set eye, Micrognathia |
OMIM:600118 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries |
ORPHA:293181 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury... |
OMIM:208050 |
Williams Syndrome |
|
Aortic arch aneurysm, Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, V... |
ORPHA:904 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Temtamy Syndrome |
|
Microphthalmia, Micrognathia, Hypertelorism |
ORPHA:1777 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect |
OMIM:606812 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Coronary artery stenosis, Abnormal coronary artery morpholo... |
ORPHA:66529 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Dahlberg-Borer-Newcomer Syndrome |
|
Anonychia, Hypocalcemia, Generalized hirsutism |
ORPHA:1563 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Hypotelorism |
ORPHA:3469 |
Aneurysm Of Sinus Of Valsalva |
|
Dilatation of the sinus of Valsalva, Stroke, Bacterial endocarditis |
ORPHA:1054 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
ORPHA:2255 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hypopigmented skin patches, Eosinophilia |
ORPHA:183 |
Pierpont Syndrome |
|
Microphthalmia, Deeply set eye, Hypertelorism |
OMIM:602342 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Wide anterior fontanel, Hypertelorism |
OMIM:616920 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Hypertelorism |
OMIM:602501 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:404443 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:130000 |
X Small Rings |
|
Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Fibrous Dysplasia Of Bone |
|
Large cafe-au-lait macules with irregular margins, Multiple cafe-au-lait spots, Hypercalcemia, Hy... |
ORPHA:249 |
Cat-Eye Syndrome |
|
Microphthalmia, Hypertelorism |
ORPHA:195 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Chylopericardium |
ORPHA:2414 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... |
OMIM:210710 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Ab... |
ORPHA:37042 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Otosclerosis 1 |
|
Otosclerosis |
OMIM:166800 |
Otosclerosis 7 |
|
Otosclerosis |
OMIM:611572 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:608149 |
Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Hypocalcemia |
OMIM:606407 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Micrognathia, Hypertelorism |
ORPHA:93267 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Mitral valve prolapse, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ca... |
ORPHA:2791 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... |
OMIM:214500 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Retrognathia, Hypertelorism |
OMIM:614583 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta |
OMIM:300514 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... |
OMIM:619503 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection |
OMIM:618343 |
Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... |
OMIM:609029 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots |
ORPHA:100 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... |
ORPHA:730 |
Robinow Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Pulmonic stenosis, At... |
ORPHA:97360 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... |
ORPHA:500 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Multiple Endocrine Neoplasia, Type I |
|
Cafe-au-lait spot, Hypercalcemia |
OMIM:131100 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... |
OMIM:192430 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Irregu... |
ORPHA:428 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin... |
ORPHA:3322 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Arterial Tortuosity Syndrome |
|
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... |
ORPHA:3342 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... |
ORPHA:261311 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Marden-Walker Syndrome |
|
Microphthalmia, Wide anterior fontanel, Micrognathia, Hypertelorism |
OMIM:248700 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone, Hypertelorism |
OMIM:229400 |
Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis |
OMIM:615280 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao... |
ORPHA:1708 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Deeply set eye, Microphthalmia |
OMIM:214150 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Cranium bifidum occultum, Microphthalmia, Hypoplasia of... |
ORPHA:306542 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia |
OMIM:611134 |
Alg3-Cdg |
|
Cardiomyopathy, Coarctation of the descending aortic arch |
ORPHA:79321 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Micrognathia, Hypertelorism |
OMIM:614219 |
Otosclerosis 4 |
|
Otosclerosis |
OMIM:611571 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:300867 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:48431 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... |
OMIM:301056 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Frontorhiny |
|
Encephalocele, Hypertelorism, Hypoplasia of the maxilla, Basal encephalocele, Cranium bifidum occ... |
ORPHA:391474 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess |
ORPHA:284 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... |
ORPHA:96147 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypertelorism |
ORPHA:1135 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Hyperpigmentation of the skin, Hypercalcemia, Eosinophilia, Thrombocy... |
ORPHA:797 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Pulmonic stenosis |
OMIM:620141 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... |
OMIM:201000 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Hypertelorism |
OMIM:300887 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Micrognathia |
OMIM:619694 |
Joubert Syndrome 14 |
|
Encephalocele, Hypertelorism, Hydrocephalus, Meningocele, Deeply set eye, Microphthalmia |
OMIM:614424 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus |
ORPHA:858 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... |
OMIM:613989 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho... |
OMIM:618156 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Hypertelorism |
ORPHA:228390 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... |
ORPHA:96170 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Deeply set eye, Micrognathia |
OMIM:610756 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
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 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:613155 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement |
OMIM:616028 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Normochromic anemia |
ORPHA:97282 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis |
OMIM:212750 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Microphthalmia |
OMIM:601349 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Umbilical hernia, Microphthalmia, Retrognathia |
OMIM:618914 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... |
OMIM:100300 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:614114 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Proptosis, Exencephaly, Hypertelorism |
ORPHA:2211 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hypertrichosis |
OMIM:235255 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... |
ORPHA:3338 |
Wrinkly Skin Syndrome |
|
Muscular ventricular septal defect, Atrial septal dilatation |
OMIM:278250 |
Distal Triplication 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology |
ORPHA:314588 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis |
ORPHA:75496 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Hypertelorism |
OMIM:167730 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Temtamy Syndrome |
|
Microphthalmia, Micrognathia, Hypoplasia of teeth, Hypertelorism |
OMIM:218340 |
Acquired Von Willebrand Syndrome |
|
Intracranial hemorrhage, Aortic valve stenosis, Pulmonic stenosis, Gastrointestinal angiodysplasia |
ORPHA:99147 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis |
OMIM:277600 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Hypotelorism, Holoprosencephaly, Microphthalmia, Cyclopia |
OMIM:147250 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnorma... |
ORPHA:2059 |
Glucagonoma |
|
Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Hypertelorism, Micrognathia, Anencephaly, Deeply set ey... |
OMIM:619148 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Hypertelorism |
ORPHA:1791 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Atrial septal defect, Thoracic aortic aneury... |
OMIM:613795 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Cardiomegaly, Coarctation of aorta |
OMIM:614921 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis |
ORPHA:1655 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:284979 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarctation of aorta |
ORPHA:2780 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Retrognathia |
OMIM:619981 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis |
OMIM:617600 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Monosomy 18P |
|
Carious teeth, Microphthalmia, Holoprosencephaly, Micrognathia |
ORPHA:1598 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Hypertelorism |
OMIM:613456 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:2547 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, ... |
ORPHA:2745 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta |
ORPHA:2409 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Deeply set eye |
ORPHA:261272 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Lymphatic Filariasis |
|
Hypereosinophilia, Hyperpigmentation of the skin |
ORPHA:2035 |
Joubert Syndrome 37 |
|
Microphthalmia, Deeply set eye, Hypertelorism |
OMIM:619185 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Hypomagnesemia, Thrombocytopenia, S... |
ORPHA:699 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... |
ORPHA:75565 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Micrognathia, Hypertelorism, Holoprosencephaly, Micro... |
OMIM:619879 |
Pagod Syndrome |
|
Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left... |
ORPHA:991 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Deeply set eye, Micrognathia |
OMIM:614526 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus |
OMIM:613153 |
Trisomy 13 |
|
Anophthalmia, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply set eye, Microphthalmia |
ORPHA:3378 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary tee... |
OMIM:257850 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... |
OMIM:194050 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Dilatation of the cereb... |
ORPHA:284984 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypertelorism |
ORPHA:85194 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Microphthalmia, Supernumerary tooth |
ORPHA:627 |
Isolated Exencephaly |
|
Proptosis, Holoprosencephaly, Hypoplasia of the frontal bone |
ORPHA:563612 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Microphthalmia, Natal tooth, Hypotelorism |
OMIM:616395 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Dental malocclusion, Hypertelorism |
OMIM:617883 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta |
OMIM:617260 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:370959 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect |
ORPHA:83617 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Moebius Syndrome |
|
Microphthalmia, Micrognathia, Hypertelorism |
OMIM:157900 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... |
ORPHA:397 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Coccidioidomycosis |
|
Abnormality of the spleen, Eosinophilia, Granuloma, Abscess |
ORPHA:228123 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Retrognathia, Hypertelorism |
OMIM:243310 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Hypertelorism |
OMIM:618652 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic... |
OMIM:619488 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul... |
ORPHA:1900 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Hypotelorism, Holoprose... |
ORPHA:2166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Deeply set eye, Microphthalmia, Retrognathia |
OMIM:614643 |
Seckel Syndrome 2 |
|
Microphthalmia, Micrognathia |
OMIM:606744 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Hypertelorism |
OMIM:614105 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449563 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
Mend Syndrome |
|
Micrognathia, Hypertelorism, Wide anterior fontanel, Hydrocephalus, Microphthalmia |
ORPHA:401973 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Umbilical hernia, Bilateral microphthalmos, Hypertelorism |
ORPHA:369891 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Hypertelorism, Hypotelorism, Deeply set eye, Holoprosencephaly, Microphthalmia |
OMIM:612530 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Long eyelashes, Hypocalcemia |
OMIM:618476 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Hypertelorism |
OMIM:612379 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Scleromyxedema |
|
Stroke, Abnormal coronary artery morphology, Abnormal pulmonary artery morphology, Transient isch... |
ORPHA:167635 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Dentinogenesis imperfecta |
OMIM:166220 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:3191 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Bresek Syndrome |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:85284 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
ORPHA:84064 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta |
ORPHA:1692 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Hydrocephalus, Micrognathia |
ORPHA:163966 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Mitral valve prolapse, Coarctation of aorta |
ORPHA:93932 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos, Hypertelorism |
ORPHA:2399 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis |
OMIM:616737 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Retrognathia, Deeply set eye, Hypertelorism |
OMIM:620098 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Microphthalmia, Ret... |
ORPHA:3412 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Microphthalmia |
OMIM:152950 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Sparse eyebrow, Hypocalcemia, Neutropenia, Sparse hair, Anemia |
ORPHA:175 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... |
OMIM:300707 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Micrognathia, Hypertelorism, Wide anterior fontanel, Microphthalmia |
OMIM:617925 |
Multiple Endocrine Neoplasia Type 1 |
|
Large cafe-au-lait macules with irregular margins, Hypercalcemia |
ORPHA:652 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Hypocalcemia |
ORPHA:746 |
Cousin Syndrome |
|
Micrognathia, Hypertelorism, Hydrocephalus, Deeply set eye, Hydranencephaly, Microphthalmia |
OMIM:260660 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypotelorism |
OMIM:619053 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Hypertelorism, Hydrocephalus, Spinal dysraphism, Hypotelorism, Deepl... |
ORPHA:2162 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology |
ORPHA:1001 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Hypertelorism, Micrognathia, Hypoplasia of the maxilla, Hypotelorism, ... |
OMIM:601812 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Abnormal aortic morphology, Subvalvular aortic stenosis, Coarctation of aorta |
ORPHA:1052 |
Holoprosencephaly 7 |
|
Occipital meningocele, Hypoplasia of the premaxilla, Hypertelorism, Alobar holoprosencephaly, Hyd... |
OMIM:610828 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripheral pulmonary a... |
OMIM:245150 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612541 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... |
ORPHA:1507 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Mosaic Trisomy 9 |
|
Spina bifida, Micrognathia, Hypertelorism, Hypotelorism, Microphthalmia |
ORPHA:99776 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Micrognathia, Shallow orbits |
OMIM:617306 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Marfan Syndrome |
|
Mitral valve calcification, Descending aortic dissection, Dilatation of an abdominal artery, Mitr... |
ORPHA:558 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Deeply set eye |
OMIM:305390 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:494344 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta |
OMIM:166200 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Marfan Syndrome |
|
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... |
OMIM:154700 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root an... |
ORPHA:536467 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Aortopulmonary collateral arteries |
OMIM:617557 |
Trisomy 18 |
|
Microretrognathia, Spina bifida, Hypertelorism, Anencephaly, Holoprosencephaly, Microphthalmia, C... |
ORPHA:3380 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Noonan Syndrome 14 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse |
OMIM:619745 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hydrocephalus |
OMIM:300863 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Micrognathia, Hypertelorism, Hydrocephalus, Deeply set eye, Microphthalmia |
OMIM:243605 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coarctation of aorta |
OMIM:163200 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:580 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Microphthalmia, Hypertelorism |
OMIM:618571 |
Vici Syndrome |
|
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al... |
OMIM:242840 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypertelorism,... |
ORPHA:861 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Deeply set eye |
OMIM:615663 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Micrognathia, Hydrocephalus, Bilateral microphthalmos, Hydranencephaly |
ORPHA:2839 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... |
ORPHA:163979 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Hypertelorism |
OMIM:608091 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip... |
ORPHA:280633 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Micrognathia |
ORPHA:2505 |
Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Thromboc... |
ORPHA:544482 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Hypertelorism |
OMIM:613451 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Deeply set eye, Bilateral microphthalmos, Micrognathia |
OMIM:610758 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... |
OMIM:614437 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Retrognathia, Hypertelorism |
OMIM:616449 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
Curry-Jones Syndrome |
|
Microphthalmia, Hypertelorism |
ORPHA:1553 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Coarctation of aorta |
OMIM:618454 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Mitra... |
OMIM:300166 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microretrognathia, Natal tooth, Hypertelorism, Microphthalmia |
OMIM:616300 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Micrognathia |
ORPHA:404440 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... |
ORPHA:353281 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Hypertelorism, Micrognathia, Hydrocephalus, Anencephaly, Lobar holop... |
ORPHA:564 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:217085 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Hypertelorism |
OMIM:615145 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm |
OMIM:135500 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Hypertelorism |
ORPHA:2717 |
Hartsfield Syndrome |
|
Hypertelorism, Alobar holoprosencephaly, Lobar holoprosencephaly, Hypotelorism, Hypoplasia of the... |
OMIM:615465 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus |
ORPHA:974 |
Hennekam Syndrome |
|
Splenomegaly, Lymphopenia, Hypocalcemia, Sparse axillary hair |
ORPHA:2136 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... |
ORPHA:217093 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Retrognathia |
OMIM:206920 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... |
ORPHA:17 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Sotos Syndrome |
|
Hypercalcemia, Sparse anterior scalp hair, Acute lymphoblastic leukemia, Small nail, Hypopigmenta... |
ORPHA:821 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Mulberry molar |
OMIM:302350 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Micrognathia, Hypertelorism |
OMIM:156610 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Micrognathia |
ORPHA:3301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydrocephalu... |
OMIM:236670 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... |
OMIM:118450 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... |
OMIM:619991 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Spina bifida, Hypertelorism, Hydrocephalus, Microphthalmia |
OMIM:109400 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, N... |
ORPHA:79430 |
Cushing Disease |
|
Sparse scalp hair, Leukocytosis, Hirsutism, Decreased eosinophil count, Lymphopenia, Hyperpigment... |
ORPHA:96253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Buphthalmos |
OMIM:613150 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Hy... |
OMIM:610829 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Fine hair, Hypocalcemia, Sparse hair |
OMIM:218330 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Micrognathia, Deeply set eye, Hypertelorism |
ORPHA:529962 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Micrognathia |
OMIM:614222 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Vascular calcification, Premat... |
ORPHA:90324 |
Momo Syndrome |
|
Delayed eruption of teeth, Hypertelorism, Bilateral microphthalmos, Dental malocclusion, Taurodontia |
ORPHA:2563 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... |
ORPHA:60030 |
Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Abnormal heart morphology |
ORPHA:314679 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:277170 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:1915 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, Micrognathia, Supernumerary tooth, Dental malocclusion, Microphthalmia |
OMIM:234100 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... |
ORPHA:567 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta |
OMIM:619480 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Micrognathia, Deeply set eye, Hypertelorism |
OMIM:617729 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Micrognathia, Hypertelorism |
ORPHA:284160 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Microphthalmia |
ORPHA:2712 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... |
ORPHA:84 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... |
ORPHA:444077 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta |
ORPHA:1199 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmoni... |
ORPHA:536471 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Curry-Jones Syndrome |
|
Microphthalmia, Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta |
OMIM:617088 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Enamel hypoplasia, Dental malocclusion, Persistence of primary teeth |
OMIM:618727 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... |
ORPHA:124 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micrognathia, Hypertelorism |
OMIM:614230 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... |
ORPHA:1340 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia, Hypertelorism |
OMIM:607323 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Hypertelorism |
OMIM:248450 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hypertelorism |
ORPHA:35173 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus |
OMIM:617244 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta |
OMIM:105650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pul... |
ORPHA:3455 |
Jacobsen Syndrome |
|
Micrognathia, Hypertelorism, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia |
OMIM:147791 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Martsolf Syndrome 1 |
|
Hypoplasia of the maxilla, Microphthalmia, Micrognathia |
OMIM:212720 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Deeply set eye |
OMIM:614225 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Hypertelorism, Micrognathia, Wide anterior fontanel, Hydrocephalus, Umbili... |
OMIM:612289 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Microphthalmia, Retrognathia, Hypertelorism |
ORPHA:464738 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Micrognathia |
OMIM:251230 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypertelorism, Supernumerary toot... |
OMIM:268400 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:115150 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Focal Dermal Hypoplasia |
|
Abnormal dental enamel morphology, Spina bifida, Hypoplasia of the iris, Microphthalmia, Umbilica... |
ORPHA:2092 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... |
ORPHA:51608 |
Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
ORPHA:2308 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:257300 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... |
OMIM:612109 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Cleft mandible, Agenesis of central incisor, Hypertelorism |
ORPHA:364577 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Gitelman Syndrome |
|
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Microphthalmia, Hypertelorism |
ORPHA:1236 |
Micro Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:2510 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Proptosis, Micrognathia, Hypertelorism |
ORPHA:251014 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Hardikar Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... |
OMIM:301068 |
Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... |
OMIM:151100 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... |
ORPHA:438213 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Natal tooth, Hypertelorism, Micrognathia, Large placenta, Hydrocephalus,... |
OMIM:249000 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... |
ORPHA:287 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Hypoplasia of teeth |
ORPHA:2728 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Micrognathia, Hypertelorism |
OMIM:251300 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... |
ORPHA:709 |
Cohen Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:193 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Coarct... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Coarct... |
ORPHA:353277 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Micrognathia, Hypertelorism |
OMIM:300895 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:1352 |
Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia, Hydrocephalus, Delayed eruption of teeth |
ORPHA:77301 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis |
ORPHA:171 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... |
OMIM:235730 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo... |
ORPHA:508488 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... |
OMIM:133540 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... |
OMIM:218040 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse, Aortic root aneurysm... |
ORPHA:666 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Hydrocephalus, Micrognathia, Hypertelorism |
OMIM:614083 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Isolated Arrhinia |
|
Microphthalmia, Hypoplasia of the nasal bone, Hypertelorism |
ORPHA:1134 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Microphthalmia |
ORPHA:568 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
17Q11 Microdeletion Syndrome |
|
Abnormal internal carotid artery morphology, Coarctation of aorta, Abnormal heart morphology, Dil... |
ORPHA:97685 |
Trichothiodystrophy |
|
Hypertelorism, Carious teeth, Hypoplasia of mandible relative to maxilla, Bilateral microphthalmo... |
ORPHA:33364 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Retrognathia |
OMIM:601675 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... |
ORPHA:163746 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mottling, Reduce... |
OMIM:219800 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Microphthalmia, Hypertelorism |
OMIM:201180 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Chromosome 13Q14 Deletion Syndrome |
|
Micrognathia, Hypotelorism, Umbilical hernia, Holoprosencephaly, Microphthalmia |
OMIM:613884 |
Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Coarctation of aorta |
ORPHA:2322 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... |
ORPHA:90348 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul... |
OMIM:220111 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... |
OMIM:616268 |
Monosomy 13Q14 |
|
Microphthalmia, Micrognathia, Holoprosencephaly, Hypertelorism |
ORPHA:1587 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Hypertelorism, Proptosis... |
ORPHA:141099 |
Au-Kline Syndrome |
|
Aortic root aneurysm |
OMIM:616580 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Micrognathia, Hypertelorism, Carious teeth, Microphthalmia |
OMIM:620186 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Hypertelorism, Micrognathia, Proptosis, Short umbilical cord, Small placenta, Hydra... |
OMIM:256520 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Delayed eruption of primary teeth |
OMIM:300952 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Hypertelorism, Hypotelorism, Deeply set eye, Microphthalmia |
OMIM:616975 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Aortic rupture |
OMIM:614557 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia... |
ORPHA:534 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus, Hypertelorism, Hypotelorism |
OMIM:227646 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Coarctation of aorta |
ORPHA:1772 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Optic nerve hypoplasia, Bilateral microphthalmos, Hypotelorism, Lobar holopros... |
ORPHA:468631 |
Pallister-Hall Syndrome |
|
Microphthalmia, Holoprosencephaly, Natal tooth |
OMIM:146510 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail |
ORPHA:221 |
Blomstrand Lethal Chondrodysplasia |
|
Coarctation of aorta |
ORPHA:50945 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep... |
ORPHA:96334 |
Aicardi Syndrome |
|
Microphthalmia, Prominence of the premaxilla, Spina bifida |
OMIM:304050 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Alobar holoprosencephaly, Hypotelorism, Proptosis, Holoprosencephaly, ... |
OMIM:157170 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Hypertelorism |
OMIM:272950 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Microphthal... |
ORPHA:1106 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Hypertelorism, Myelomeningocele, Dental malocclusion, Microphthalmia... |
ORPHA:2052 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Ischemic stroke, Cerebral hemorrhage, Aortic dissection |
ORPHA:90068 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Dental malocclusion, Hypoplasia of teeth, Hypertelorism |
OMIM:603457 |
Perlman Syndrome |
|
Interrupted aortic arch |
OMIM:267000 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Leukocytosis, Hirsutism, Decreased eosinophil count, Lymphopenia, Hyperpigment... |
ORPHA:99889 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth |
ORPHA:2250 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Supernumerary tooth, Natal tooth, Micrognathia |
ORPHA:2108 |
Legius Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplasia of the maxilla, Microphthalmia, Micrognathia, Hypertelorism |
OMIM:263650 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Wide anterior fontanel, Large placenta, Proptosis, Umbilical... |
ORPHA:116 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... |
OMIM:243800 |
Roberts Syndrome |
|
Microphthalmia, Proptosis, Micrognathia, Hypertelorism |
ORPHA:3103 |
Oculodentodigital Dysplasia |
|
Carious teeth, Microphthalmia, Enamel hypoplasia, Taurodontia |
OMIM:164200 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... |
ORPHA:99226 |
Turner Syndrome |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... |
ORPHA:881 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Micrognathia |
OMIM:153400 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Anophthalmia, Myelomeningocele, Hydrocephalus, Dental malocclusion, An... |
OMIM:305600 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, Unilateral microphthalmos |
OMIM:618874 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:363611 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia, Hypertelorism |
ORPHA:959 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:270400 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Cleft mandible, Micrognathia, Hypertelorism |
OMIM:608670 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Hypertelorism, Aqueductal stenosis, Hypoplasia of the zy... |
ORPHA:138 |
Monosomy 9P |
|
Microphthalmia, Micrognathia, Hypertelorism |
ORPHA:261112 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:147920 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Hypotelorism, Microphthalmia, Cyclopia, Ethmocephaly |
OMIM:236100 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Hydrocephalus, Mandibular aplasia,... |
ORPHA:2556 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Carious teeth, Microphthalmia, Micrognathia, Hypertelorism |
OMIM:616734 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Digeorge Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,... |
OMIM:188400 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... |
ORPHA:2044 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hypertelorism, Myelomeningocele, Bilateral microphthalmos, Dental ma... |
OMIM:219000 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve... |
OMIM:312870 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess |
ORPHA:289176 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Yunis-Varon Syndrome |
|
Micrognathia, Hypertelorism, Abnormality of dental structure, Hydrocephalus, Bilateral microphtha... |
ORPHA:3472 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Micrognathia, Hypertelorism |
OMIM:609945 |
Cockayne Syndrome |
|
Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Deeply set eye, Microphtha... |
ORPHA:191 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, ... |
OMIM:619534 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Retrognathia, Dental malocclusion |
OMIM:601552 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Hydrocephalus, Congenital aphakia |
ORPHA:137675 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Fryns Syndrome |
|
Microretrognathia, Microphthalmia, Hypertelorism |
OMIM:229850 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Hypocalcemia |
OMIM:620330 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:184705 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Branchial fistula, Hypertelorism, Deeply set eye, Shallow orbits, Microphthalm... |
OMIM:613406 |
Nicolaides-Baraitser Syndrome |
|
Coarctation of aorta |
OMIM:601358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
Aicardi Syndrome |
|
Microphthalmia, Prominence of the premaxilla |
ORPHA:50 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Lens coloboma, Deeply set eye, Microphthalmia, Umbilical hernia, Retrogn... |
OMIM:619539 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Micrognathia |
OMIM:620005 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly, Severe hydrocephalus, Micrognathia |
OMIM:236680 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... |
ORPHA:261552 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Micrognathia, Hypertelorism, Cleft of chin, Branchial anomaly, Microphthalmia |
OMIM:113620 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Micrognathia |
OMIM:273395 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Tetralogy of ... |
ORPHA:261537 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... |
OMIM:164210 |
Peters-Plus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:261540 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
ORPHA:672 |
Roberts-Sc Phocomelia Syndrome |
|
Hypertelorism, Micrognathia, Hydrocephalus, Frontal encephalocele, Proptosis, Shallow orbits, Mic... |
OMIM:268300 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... |
ORPHA:818 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Ab... |
ORPHA:2152 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Microphthalmia, Micrognathia |
OMIM:309500 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypotelorism, Hypoplasia of the iris, Deeply set eye, Microphthalmia |
ORPHA:649 |
Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Dilatation of the sinus of Valsalva |
OMIM:304120 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Retrognathia, Micrognathia |
OMIM:607932 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Enamel hypoplasia |
OMIM:309000 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,... |
OMIM:601803 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Micrognathia |
OMIM:154500 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Agenesis of maxillary lateral incisor |
OMIM:309800 |