| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Proptosis |
OMIM:187500 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Cherubism |
|
Macular scar, Proptosis, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
| Cherubism |
|
Proptosis, Optic atrophy |
ORPHA:184 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Proptosis |
ORPHA:3303 |
| Kleeblattschaedel |
|
Proptosis |
OMIM:148800 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Optic atrophy, Proptosis, Retinopathy |
OMIM:616171 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Pontocerebellar Hypoplasia Type 10 |
|
Proptosis, Optic atrophy |
ORPHA:411493 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Proptosis |
ORPHA:2370 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Proptosis, Anemia |
OMIM:607115 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:608716 |
| Holoprosencephaly 11 |
|
Proptosis, Polysplenia, Hypotelorism |
OMIM:614226 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Proptosis, Hypertelorism |
OMIM:612247 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Proptosis, Abnormal vitreous humor morphology, Mitral valve prolapse |
ORPHA:90653 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Frias Syndrome |
|
Proptosis, Hypertelorism |
OMIM:609640 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Proptosis |
OMIM:618492 |
| Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy, Proptosis |
OMIM:617276 |
| Vascular Malformation, Primary Intraosseous |
|
Proptosis, Hypochromic anemia |
OMIM:606893 |
| Filippi Syndrome |
|
Optic atrophy, Ventricular septal defect, Proptosis, Dystonia |
OMIM:272440 |
| Spinocerebellar Ataxia Type 3 |
|
Proptosis, Dystonia |
ORPHA:98757 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Hypertelorism, Optic atrophy, Cardiomyopathy, Proptosis |
OMIM:618437 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Proptosis |
ORPHA:1832 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis |
ORPHA:289596 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Hypertelorism, Proptosis, Abnormal heart morphology |
ORPHA:352490 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Hypertelorism, Proptosis |
ORPHA:2143 |
| Hypophosphatasia, Childhood |
|
Proptosis |
OMIM:241510 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, Proptosis, Optic atrophy |
OMIM:608027 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... |
ORPHA:1451 |
| Frontoocular Syndrome |
|
Atrial septal defect, Proptosis, Pulmonic stenosis, Hypotelorism |
OMIM:605321 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Proptosis |
ORPHA:85172 |
| Optic Pathway Glioma |
|
Papilledema, Proptosis, Optic atrophy |
ORPHA:2086 |
| Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Ventricular septal defect, Hypertelorism, Deeply set eye, Proptosis |
OMIM:617201 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... |
OMIM:612541 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Proptosis, Optic atrophy |
OMIM:617481 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Proptosis, Hypertelorism |
OMIM:615834 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Proptosis, Optic atrophy |
OMIM:618346 |
| Vitamin K Antagonist Embryofetopathy |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:1914 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:93262 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Vitreous floaters, Cardiomegaly |
ORPHA:85447 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Thrombocytopenia |
ORPHA:858 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis, Patent foramen ovale |
OMIM:618821 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Proptosis, Hypertelorism |
OMIM:618577 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis |
OMIM:242500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Deeply set eye, Cardiomegaly |
OMIM:619064 |
| Desbuquois Syndrome |
|
Proptosis, Ventricular septal defect |
ORPHA:1425 |
| Crouzon Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:207 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
| Prolidase Deficiency |
|
Hepatomegaly, Hypertelorism, Splenomegaly, Anemia, Proptosis, Thrombocytopenia |
OMIM:170100 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Hyperostosis Cranialis Interna |
|
Proptosis, Optic atrophy |
OMIM:144755 |
| Teebi Hypertelorism Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:619736 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Hypertelorism |
OMIM:618961 |
| Caffey Disease |
|
Proptosis |
ORPHA:1310 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Hypertelorism, Myocardial fibrosis, Pigmentary retinopathy, Pericardi... |
OMIM:253250 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Hypertelorism, Cardiomegaly, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, Proptosis, Hypertelorism |
OMIM:618354 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Deeply set eye, Proptosis |
OMIM:618707 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Proptosis |
ORPHA:157965 |
| Jackson-Weiss Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:1540 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Hypertelorism, Proptosis, Abnormal heart morphology |
OMIM:263210 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Proptosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Microhydranencephaly |
|
Athetosis, Proptosis |
OMIM:605013 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Muenke Syndrome |
|
Proptosis, Hypertelorism |
OMIM:602849 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Proptosis |
OMIM:619451 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proptosis |
OMIM:166300 |
| Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Hypotelorism, Athetosis, Deeply set eye, Proptosis |
OMIM:619435 |
| Chitayat Syndrome |
|
Proptosis, Hypertelorism |
OMIM:617180 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Proptosis, Optic atrophy, Hypertelorism |
OMIM:614800 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Proptosis |
ORPHA:2522 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Proptosis |
ORPHA:2655 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Proptos... |
ORPHA:525731 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret... |
OMIM:603903 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Hypertelorism, Situs inversus totalis, Proptosis, Tetralogy of Fallot |
ORPHA:1908 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Proptosis |
ORPHA:93274 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Splenomegaly, Leukoc... |
OMIM:259720 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Chromosome 5P13 Duplication Syndrome |
|
Hypertelorism, Proptosis, Hypotelorism |
OMIM:613174 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Proptosis, Optic atrophy |
ORPHA:1185 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
| Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Graves Disease, Susceptibility To, 1 |
|
Proptosis |
OMIM:275000 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Proptosis, Hypertelorism |
OMIM:109120 |
| Crouzon Syndrome |
|
Hypertelorism, Proptosis, Optic atrophy, Shallow orbits |
OMIM:123500 |
| Marshall-Smith Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:561 |
| Prolidase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Hypertelorism, Splenomegaly, Proptosis |
ORPHA:742 |
| Muenke Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:53271 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Abnormal retinal vascular morphology... |
ORPHA:33226 |
| Marbach-Rustad Progeroid Syndrome |
|
Shallow orbits, Proptosis, Ventricular septal hypertrophy, Intention tremor |
OMIM:619322 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Hypertelorism, Proptosis |
OMIM:222448 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Hypertelorism, Hypersplenism, Splenomegaly, Proptosis |
OMIM:613385 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Proptosis, Hypertelorism |
OMIM:602482 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Proptosis, Optic nerve compression, Anemia |
OMIM:612301 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy, Rod-cone dys... |
ORPHA:391428 |
| Acrofrontofacionasal Dysostosis 2 |
|
Proptosis, Hypertelorism |
OMIM:239710 |
| Ogden Syndrome |
|
Torticollis, Proptosis, Ventricular septal defect |
ORPHA:276432 |
| 19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Proptosis, Ventricular septal defect, Hypertelorism |
ORPHA:254346 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Proptosis, Ventricular septal defect |
OMIM:617895 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Proptosis |
OMIM:615381 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypertelorism, Giant platelets, Anemia, Proptosis, Left ventricular hypertrophy, Thrombocytopenia |
OMIM:611209 |
| Chops Syndrome |
|
Ventricular septal defect, Hypertelorism, Splenomegaly, Optic atrophy, Anomalous pulmonary venous... |
OMIM:616368 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Proptosis |
ORPHA:352582 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proptosis |
ORPHA:2774 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Wyburn-Mason Syndrome |
|
Retinal vascular malformation, Proptosis |
ORPHA:53719 |
| Trisomy 12P |
|
Proptosis, Hypertelorism |
ORPHA:1699 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Proptosis, Hypertelorism |
OMIM:617190 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Proptosis, Hypertelorism |
OMIM:620250 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Optic disc coloboma, Proptosis |
ORPHA:1790 |
| 20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Proptosis, Hypertelorism |
ORPHA:261311 |
| Whipple Disease |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Proptosis, Anemia |
ORPHA:3452 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Proptosis, Hypertelorism, Shallow orbits |
ORPHA:73230 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Craniosynostosis 4 |
|
Proptosis, Optic nerve hypoplasia, Hypertelorism |
OMIM:600775 |
| Restrictive Dermopathy 2 |
|
Proptosis |
OMIM:619793 |
| Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Proptosis, Hypertelorism |
ORPHA:2484 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Rod-cone dystrophy, Retinal degeneration, Cardiomegaly |
OMIM:266500 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Hypertelorism, Splenomegaly, Proptosis |
OMIM:235255 |
| Machado-Joseph Disease |
|
Proptosis, Dystonia |
OMIM:109150 |
| Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Hypertelorism, Proptosis, Atrial septal defect, Trunc... |
ORPHA:2008 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Proptosis, Hypertelorism |
OMIM:618580 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Hypertelorism, Proptosis, Abnormal optic nerve morphology, Atrial sept... |
OMIM:605039 |
| Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Proptosis, Degenerative vitreoretinopathy |
ORPHA:1427 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola... |
ORPHA:508533 |
| Marshall Syndrome |
|
Retinal detachment, Hypertelorism, Abnormal vitreous humor morphology, Vitreoretinopathy, Proptosis |
ORPHA:560 |
| Machado-Joseph Disease Type 1 |
|
Proptosis, Dystonia |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Proptosis, Dystonia |
ORPHA:276241 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Proptosis |
ORPHA:440354 |
| Cole-Carpenter Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:616294 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Hypertelorism, Mitral valve prolapse, Proptosis, Atrial sept... |
OMIM:245600 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Proptosis |
ORPHA:2409 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Proptosis |
ORPHA:1860 |
| Pfeiffer Syndrome Type 1 |
|
Proptosis, Hypertelorism |
ORPHA:93258 |
| Sclerosteosis 1 |
|
Papilledema, Proptosis, Optic atrophy, Hypertelorism |
OMIM:269500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Proptosis, Bicuspid aortic valve, Hypertelorism |
OMIM:618529 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
| Congenital Myopathy 22A, Classic |
|
Deeply set eye, Proptosis |
OMIM:620351 |
| Kniest Dysplasia |
|
Retinal detachment, Proptosis |
OMIM:156550 |
| Familial Gestational Hyperthyroidism |
|
Proptosis, Hand tremor |
ORPHA:99819 |
| Atelosteogenesis Type I |
|
Proptosis, Retinal dysplasia, Hypertelorism |
ORPHA:1190 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hypertelorism, Splenomegaly, Optic nerve dysplasia, Proptosis, Pulmonic stenosis, Atrial septal d... |
OMIM:115150 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis |
ORPHA:1323 |
| Distal Deletion 9P |
|
Proptosis, Hypertelorism |
ORPHA:1642 |
| Acrocraniofacial Dysostosis |
|
Proptosis, Hypertelorism |
ORPHA:949 |
| Cole-Carpenter Syndrome 1 |
|
Proptosis, Shallow orbits |
OMIM:112240 |
| Machado-Joseph Disease Type 3 |
|
Proptosis, Dystonia |
ORPHA:276244 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:1555 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Hypertelorism, Bicuspid pu... |
ORPHA:3427 |
| Cenani-Lenz Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:3258 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Lateral Meningocele Syndrome |
|
Proptosis, Ventricular septal defect, Hypertelorism |
ORPHA:2789 |
| Desbuquois Dysplasia 1 |
|
Proptosis |
OMIM:251450 |
| Distal Deletion 10Q |
|
Atrial septal defect, Proptosis, Hypotelorism |
ORPHA:96148 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis, Proptosis, Optic atrophy |
ORPHA:2135 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Antley-Bixler Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:83 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Proptosis, Anemia |
ORPHA:370348 |
| Saul-Wilson Syndrome |
|
Proptosis, Neutropenia |
OMIM:618150 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Proptosis, Hand tremor |
ORPHA:424 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Hypertelorism, Splenomeg... |
OMIM:222470 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertelorism, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Proptosis, Enlarged kidney, Histiocytosis |
ORPHA:168569 |
| Baller-Gerold Syndrome |
|
Hypertelorism, Abnormal cardiac septum morphology, Proptosis, Hypotelorism |
ORPHA:1225 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Alg9-Cdg |
|
Hepatomegaly, Torticollis, Ventricular septal defect, Hypertelorism, Pericardial effusion, Abnorm... |
ORPHA:79328 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Proptosis, Abnormal heart morphology |
ORPHA:1865 |
| Xylt1-Cdg |
|
Hepatomegaly, Proptosis |
ORPHA:370930 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Shallow orbits, Proptosis, Optic nerve hypoplasia, Intention tremor |
OMIM:620029 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Deeply set eye, Proptosis, Mitral valve prolapse |
OMIM:616914 |
| Premature Aging Syndrome, Penttinen Type |
|
Hypertelorism, Hypermyelinated retinal nerve fibers, Hypotelorism, Proptosis, Shallow orbits |
OMIM:601812 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of ... |
OMIM:268800 |
| 20Q11.2 Microduplication Syndrome |
|
Lingual dystonia, Proptosis |
ORPHA:363659 |
| 2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Hypertelorism, Optic disc coloboma, Proptosis, Atrial septal defect |
ORPHA:251014 |
| Juvenile Xanthogranuloma |
|
Proptosis, Myeloproliferative disorder |
ORPHA:158000 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Hypertelorism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Op... |
OMIM:608013 |
| Donohue Syndrome |
|
Proptosis |
OMIM:246200 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Dural Sinus Malformation |
|
Papilledema, Proptosis |
ORPHA:97339 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Proptosis, Hypotelorism |
ORPHA:2215 |
| Dysostosis, Stanescu Type |
|
Proptosis, Hypertelorism |
ORPHA:1798 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Hypertelorism, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, ... |
ORPHA:97297 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Proptosis, Hypertelorism |
OMIM:156400 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Proptosis, Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hypertelorism, Tremor, Deeply set eye, Proptosis, Dystonia |
OMIM:300966 |
| Apert Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:87 |
| Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Hypotelorism |
OMIM:142945 |
| Bainbridge-Ropers Syndrome |
|
Deeply set eye, Proptosis, Hypertelorism |
OMIM:615485 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve... |
OMIM:619727 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypertelorism, Hypotelorism, Abnormal heart morphology, Deeply set eye, Proptosis, Patent foramen... |
ORPHA:177907 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Proptosis |
OMIM:207410 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Dystonia, Atrial septal defect, Le... |
ORPHA:79330 |
| Fibrochondrogenesis 1 |
|
Proptosis, Patent foramen ovale |
OMIM:228520 |
| Fibrochondrogenesis |
|
Proptosis, Hypertelorism |
ORPHA:2021 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Camurati-Engelmann Disease |
|
Optic nerve compression, Proptosis, Anemia |
OMIM:131300 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Hypertelorism, Proptosis, Atrial septal defect, Patent foramen ovale |
OMIM:615582 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Tremor, Amyloid deposition in the vitreous humor, Cardiomyopathy, Intention tremor |
OMIM:105210 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Neu-Laxova Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:616038 |
| Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
OMIM:123790 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Shallow orbits, Hypertelorism, Proptosis, Mitral valve prolapse |
OMIM:182212 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Mitral valve prolapse, P... |
OMIM:249420 |
| Pycnodysostosis |
|
Proptosis, Hepatosplenomegaly |
ORPHA:763 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Hypertelorism, Splenomegaly, Vacuolated lymphocytes, Dystonia, Cherry... |
OMIM:230000 |
| Pfeiffer Syndrome Type 2 |
|
Proptosis, Hypertelorism |
ORPHA:93259 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Proptosis |
OMIM:215150 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Proptosis, Patent foramen ovale |
OMIM:616894 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Proptosis |
ORPHA:85184 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Leukopenia, Proptosis, Hypertrophic cardiomyopathy, Op... |
ORPHA:1328 |
| Shprintzen-Goldberg Syndrome |
|
Hypertelorism, Proptosis, Abnormal aortic valve morphology, Mitral valve prolapse |
ORPHA:2462 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal retinal vascular morphology, Optic ... |
ORPHA:909 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Erdheim-Chester Disease |
|
Proptosis, Abnormal aortic valve morphology, Abnormal pericardium morphology, Anemia |
ORPHA:35687 |
| Cole-Carpenter Syndrome |
|
Proptosis |
ORPHA:2050 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Pfeiffer Syndrome Type 3 |
|
Proptosis, Hypertelorism |
ORPHA:93260 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Hypertelorism, Proptosis, Shallow orbits |
OMIM:101200 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Proptosis |
OMIM:619234 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Proptosis |
OMIM:615803 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Proptosis, Deeply set eye |
OMIM:620369 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
OMIM:608612 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Proptosis, Hypertelorism |
OMIM:616331 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Proptosis, Patent foramen ovale, Hypertelorism |
ORPHA:457395 |
| Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Hypertelorism, Hepatosplenomegaly, Proptosis |
ORPHA:309282 |
| Neu-Laxova Syndrome |
|
Hypertelorism, Proptosis, Opisthotonus |
ORPHA:2671 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Optic nerve hypoplasia, Hypertelorism, Optic disc coloboma, Prop... |
ORPHA:536471 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypertelorism, Proptosis, Mitral valve prolapse |
OMIM:259600 |
| Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Optic disc coloboma, Optic atrophy, Proptosis, Thrombocytopenia |
OMIM:122470 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
| Localized Scleroderma |
|
Deeply set eye, Proptosis |
ORPHA:90289 |
| Desbuquois Dysplasia 2 |
|
Proptosis |
OMIM:615777 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Proptosis, Shallow orbits, Atrial septal defec... |
OMIM:602535 |
| Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Hypertelorism, Proptosis, Abnorma... |
ORPHA:1507 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Proptosis, Enlarged kidney |
OMIM:130650 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Proptosis |
OMIM:615349 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Proptosis, Peripapillary atrophy, Mitral valve prolapse |
ORPHA:536467 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Proptosis, Chorioretinal atrophy |
OMIM:600268 |
| Zygomycosis |
|
Brain abscess, Pericarditis, Retinal detachment, Myocarditis, Endocarditis, Retinal arterial occl... |
ORPHA:73263 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Anemia, Proptosis, Atrial septal defect, Thrombocytopenia |
ORPHA:163979 |
| Nestor-Guillermo Progeria Syndrome |
|
Proptosis, Left atrial enlargement, Right atrial enlargement |
OMIM:614008 |
| Kosaki Overgrowth Syndrome |
|
Proptosis |
OMIM:616592 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Hypotelorism, Proptosis, Attenuation of retinal blood ... |
ORPHA:468631 |
| Noonan Syndrome |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Hypertelorism, Abnormality of the spleen, Prop... |
ORPHA:648 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Hypertelorism, Anemia, Leukopenia, Abnormal cardiac s... |
ORPHA:84 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Hypertelorism, Optic atrophy, Abnormal cardiac septum morphology... |
ORPHA:280 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Hypertelori... |
OMIM:619488 |
| Robinow Syndrome |
|
Ventricular septal defect, Hypertelorism, Abnormal heart morphology, Proptosis, Pulmonic stenosis... |
ORPHA:97360 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Proptosis, Shallow orbits, Lef... |
OMIM:619127 |
| Hyperthyroidism, Nonautoimmune |
|
Proptosis |
OMIM:609152 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Proptosis, Hypertelorism |
ORPHA:264200 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Proptosis, Ventricular septal defect |
OMIM:617063 |
| Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Optic atrophy, Deeply set eye, Proptosi... |
OMIM:616268 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Ventricular septal defect, Bicuspid aortic valve, Hypertelorism, H... |
OMIM:619475 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
ORPHA:90154 |
| Proboscis Lateralis |
|
Ventricular septal defect, Optic nerve hypoplasia, Hypertelorism, Optic disc coloboma, Proptosis,... |
ORPHA:141099 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Granulomatosis With Polyangiitis |
|
Pericarditis, Proptosis, Retinopathy, Granulomatosis |
ORPHA:900 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:2211 |
| Okamoto Syndrome |
|
Ventricular septal defect, Hypertelorism, Splenomegaly, Abnormal left ventricle morphology, Primu... |
ORPHA:2729 |
| Raine Syndrome |
|
Proptosis, Hypertelorism |
OMIM:259775 |
| Atelosteogenesis, Type I |
|
Proptosis, Hypertelorism |
OMIM:108720 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Hypertelorism, Optic atrophy, Proptosis, Atrial septal defect, Atriove... |
ORPHA:818 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Proptosis |
OMIM:248370 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Proptosis, Optic atrophy, Chorioretinal coloboma |
OMIM:210730 |
| Keppen-Lubinsky Syndrome |
|
Shallow orbits, Proptosis, Opisthotonus |
OMIM:614098 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Proptosis |
ORPHA:90153 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Proptosis, Choroideremia, Hypertrophic cardiomyopathy, ... |
ORPHA:116 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Congenital Myopathy 17 |
|
Proptosis |
OMIM:618975 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypertelorism, Mitral valve prolapse, Deeply set eye... |
OMIM:180849 |
| Melnick-Needles Syndrome |
|
Hypertelorism, Proptosis, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Hypertelorism, Bicuspid pulmonary valve, Mitral valve prolapse, Proptosis,... |
OMIM:609192 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Hypertelorism, Proptosis |
OMIM:616145 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Hypertelorism, Proptosis, Atrial septal defect, Tetralogy of Fallot |
ORPHA:1519 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia, Proptosis |
ORPHA:93315 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Abnormal optic nerve morphology, Proptosis, Thrombocytopenia |
ORPHA:79078 |
| Keppen-Lubinsky Syndrome |
|
Shallow orbits, Proptosis, Opisthotonus |
ORPHA:435628 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Proptosis, Patent foramen ovale, Hypertelorism |
ORPHA:221120 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Osteoglophonic Dysplasia |
|
Hypertelorism, Proptosis, Shallow orbits |
OMIM:166250 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypertelorism, Cardiomegaly |
ORPHA:2463 |
| Toriello-Lacassie-Droste Syndrome |
|
Proptosis |
ORPHA:3339 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| X-Linked Intellectual Disability, Snyder Type |
|
Proptosis, Hypertelorism |
ORPHA:3063 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Proptosis, Thrombocytopenia |
OMIM:256040 |
| Osteogenesis Imperfecta, Type Viii |
|
Proptosis |
OMIM:610915 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Cyclopi... |
OMIM:157170 |
| Meester-Loeys Syndrome |
|
Hypertelorism, Proptosis, Mitral valve prolapse |
OMIM:300989 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Proptosis, Hypertelorism |
OMIM:617011 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Abnormal aortic ... |
ORPHA:581 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Proptosis, Bicuspid aortic valve |
OMIM:271640 |
| Schinzel-Giedion Syndrome |
|
Hypertelorism, Abnormal heart morphology, Proptosis, Shallow orbits, Myeloid leukemia |
ORPHA:798 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Proptosis, Hypertelorism |
OMIM:268310 |
| Isolated Exencephaly |
|
Proptosis |
ORPHA:563612 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation, Acanthocytosis, Cardiomegaly,... |
ORPHA:14 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypertelorism, Cardiomyopathy, Proptosis, Atrial septal ... |
ORPHA:3472 |
| Roberts Syndrome |
|
Proptosis, Thrombocytopenia, Hypertelorism |
ORPHA:3103 |
| Mullegama-Klein-Martinez Syndrome |
|
Proptosis, Hypoplastic left heart, Apical muscular ventricular septal defect |
OMIM:301022 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Proptosis, Patent foramen ovale, Abnormal heart morphology |
ORPHA:444077 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:457359 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Hypertelorism, Abnormal heart morphology, Proptosis,... |
OMIM:612289 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| 17Q11 Microdeletion Syndrome |
|
Hypertelorism, Retinal vascular proliferation, Abnormal heart morphology, Deeply set eye, Proptos... |
ORPHA:97685 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Proptosis |
ORPHA:85199 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertelorism, Secundum atrial septal defect, Hypotelorism, Deeply set eye, Proptosis, Hypoplasia... |
OMIM:264090 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Chronic myelogenous leukemia, Proptosis, Chorioretinal colob... |
ORPHA:636 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Proptosis, Hypertelorism |
OMIM:130070 |
| Blomstrand Lethal Chondrodysplasia |
|
Proptosis |
ORPHA:50945 |
| Stickler Syndrome |
|
Retinal detachment, Hypertelorism, Abnormal vitreous humor morphology, Mitral valve prolapse, Pro... |
ORPHA:828 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Hypertelorism, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged ki... |
OMIM:252500 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Meningioma |
|
Papilledema, Proptosis |
ORPHA:2495 |
| Autosomal Dominant Robinow Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:3107 |
| Viss Syndrome |
|
Retinal detachment, Ventricular septal defect, Coronary sinus enlargement, Hypertelorism, Hypereo... |
OMIM:619472 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Elsahy-Waters Syndrome |
|
Proptosis, Increased cup-to-disc ratio, Hypertelorism |
OMIM:211380 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Hypertelorism, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Hypertelorism, Enlarged polycystic ovari... |
ORPHA:744 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Proptosis, Atrial septal defect, T... |
OMIM:210710 |
| Branchioskeletogenital Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:1299 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Shallow orbits, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Hypertelorism, Proptosis, Transposition of the great arteries, Patent ... |
OMIM:256520 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, L... |
OMIM:300967 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypertelorism, Proptosis, Atrial septal defect |
OMIM:194190 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Hypertelorism, Bicuspid pulmonary valve, Mitral valve prolapse, Proptosis,... |
OMIM:610168 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Proptosis, Hypertelorism |
OMIM:614437 |
| Orofaciodigital Syndrome Type 4 |
|
Proptosis, Hypertelorism |
ORPHA:2753 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Hepatosplenomegaly, Chronic lymphatic... |
ORPHA:51 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Optic atrophy, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Hypertelorism, Mitral valve prolapse, Proptosis, ... |
OMIM:613795 |
| Fetal Akinesia Deformation Sequence 1 |
|
Proptosis, Hypertelorism |
OMIM:208150 |
| Craniosynostosis And Dental Anomalies |
|
Papilledema, Proptosis, Hypertelorism |
OMIM:614188 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Proptosis, Hypertelorism |
OMIM:180700 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Proptosis |
ORPHA:2636 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Proptosis, Hypertelorism |
OMIM:271665 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypertelorism, Proptosis, Shallow orbits, Atrial sep... |
OMIM:268300 |
| Osteogenesis Imperfecta, Type Vii |
|
Proptosis |
OMIM:610682 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypertelorism, Mitral valve prolapse, Deeply set eye, Proptosis |
ORPHA:286 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Proptosis, Hypertelorism |
OMIM:201750 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypertelorism, Cardiomyopathy, Proptosis, Tetralogy of Fallot, Patent ... |
OMIM:216340 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... |
ORPHA:51608 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Hypertelorism, Proptosis, Aortic valve stenosis, Atrial septal defect,... |
OMIM:601803 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
