| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Proptosis |
OMIM:187500 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... |
OMIM:614470 |
| Cherubism |
|
Proptosis, Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
| Cherubism |
|
Optic atrophy, Proptosis |
ORPHA:184 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Proptosis |
ORPHA:3303 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Kleeblattschaedel |
|
Proptosis |
OMIM:148800 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Proptosis, Retinopathy, Macular atrophy, Optic disc pallor |
OMIM:616171 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Proptosis |
ORPHA:411493 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Hepatomegaly |
OMIM:619644 |
| Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Abnormal cardiac septum morphology |
ORPHA:2370 |
| Cinca Syndrome |
|
Proptosis, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Anemia |
OMIM:607115 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:608716 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Proptosis, Hypertelorism |
OMIM:612247 |
| Holoprosencephaly 11 |
|
Proptosis, Hypotelorism, Polysplenia |
OMIM:614226 |
| Frias Syndrome |
|
Proptosis, Hypertelorism |
OMIM:609640 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Proptosis |
OMIM:618492 |
| Stickler Syndrome Type 1 |
|
Proptosis, Abnormal vitreous humor morphology, Retinal detachment, Mitral valve prolapse |
ORPHA:90653 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia, Proptosis |
OMIM:606893 |
| Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Proptosis, Rod-cone dystrophy |
OMIM:617276 |
| Spinocerebellar Ataxia Type 3 |
|
Dystonia, Proptosis |
ORPHA:98757 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Proptosis, Cardiomyopathy, Hypertelorism, Optic disc pallor |
OMIM:618437 |
| Filippi Syndrome |
|
Optic atrophy, Dystonia, Proptosis, Ventricular septal defect |
OMIM:272440 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Proptosis |
ORPHA:1832 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis |
ORPHA:289596 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... |
OMIM:226990 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Proptosis, Atrial septal defect, Hypertelorism |
ORPHA:352490 |
| Cinca Syndrome |
|
Proptosis, Pseudopapilledema, Leukocytosis, Splenomegaly, Anemia, Hepatomegaly, Abnormality of ne... |
ORPHA:1451 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Proptosis, Optic disc pallor, Optic atrophy |
OMIM:608027 |
| Hypophosphatasia, Childhood |
|
Proptosis |
OMIM:241510 |
| Donnai-Barrow Syndrome |
|
Proptosis, Ventricular septal defect, Retinal detachment, Hypertelorism, Retinal dystrophy |
ORPHA:2143 |
| Frontoocular Syndrome |
|
Hypotelorism, Proptosis, Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Proptosis |
ORPHA:85172 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Periventricular Nodular Heterotopia 7 |
|
Proptosis, Deeply set eye, Ventricular septal defect, Hypertelorism, Optic disc pallor |
OMIM:617201 |
| Optic Pathway Glioma |
|
Optic atrophy, Papilledema, Proptosis |
ORPHA:2086 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythro... |
OMIM:612541 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Proptosis |
OMIM:617481 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Neutrophilia, Hepatomegaly,... |
OMIM:620565 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Proptosis, Hypertelorism |
OMIM:615834 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Optic atrophy, Proptosis |
OMIM:618346 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Vitreous floaters, Cardiomyopathy |
ORPHA:85447 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Proptosis, Hypertelorism |
ORPHA:93262 |
| Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Proptosis, Hypertelorism |
ORPHA:1914 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
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 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Prolidase Deficiency |
|
Proptosis, Splenomegaly, Anemia, Thrombocytopenia, Hypertelorism, Hepatomegaly |
OMIM:170100 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis |
OMIM:242500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Deeply set eye |
OMIM:619064 |
| Crouzon Syndrome |
|
Optic atrophy, Proptosis, Hypertelorism |
ORPHA:207 |
| Desbuquois Syndrome |
|
Proptosis, Ventricular septal defect |
ORPHA:1425 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... |
OMIM:256550 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Hypertelorism |
OMIM:618652 |
| Hyperostosis Cranialis Interna |
|
Optic atrophy, Proptosis |
OMIM:144755 |
| Teebi Hypertelorism Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:619736 |
| Caffey Disease |
|
Proptosis |
ORPHA:1310 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Hypertelorism |
OMIM:618961 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Proptosis, Deeply set eye |
OMIM:618707 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Cardiomegaly, Pericardial constriction, Hypertelorism, Hepatomegaly, Myoc... |
OMIM:253250 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Proptosis, Atrial septal defect, Hypertelorism |
OMIM:618354 |
| Jackson-Weiss Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:1540 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Proptosis |
ORPHA:157965 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Dystonia |
OMIM:614702 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Tyshchenko Syndrome |
|
Proptosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615102 |
| Microhydranencephaly |
|
Athetosis, Proptosis |
OMIM:605013 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Proptosis, Hypertelorism |
OMIM:263210 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, H... |
OMIM:620609 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Chitayat Syndrome |
|
Proptosis, Hypertelorism |
OMIM:617180 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Proptosis |
OMIM:619451 |
| Ritscher-Schinzel Syndrome 4 |
|
Proptosis, Hypotelorism, Deeply set eye, Hypertelorism, Athetosis |
OMIM:619435 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proptosis |
OMIM:166300 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Proptosis, Optic atrophy, Hyposegmentation of neutrophil nuclei, Hypertelorism |
OMIM:614800 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Muenke Syndrome |
|
Proptosis, Hypertelorism |
OMIM:602849 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Retinopathy... |
OMIM:603903 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Proptosis |
ORPHA:2522 |
| Thanatophoric Dysplasia |
|
Proptosis, Atrial septal defect |
ORPHA:2655 |
| Pediatric-Onset Graves Disease |
|
Proptosis, Splenomegaly, Tremor, Thrombocytopenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:525731 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Proptosis, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Hypertelorism |
ORPHA:1908 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Thanatophoric Dysplasia Type 2 |
|
Proptosis, Atrial septal defect |
ORPHA:93274 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Proptosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocy... |
OMIM:259720 |
| Chromosome 5P13 Duplication Syndrome |
|
Proptosis, Hypotelorism, Hypertelorism |
OMIM:613174 |
| Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Proptosis, Abnormal heart valve morphology, Ventricular septal defect, Car... |
ORPHA:363705 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Proptosis |
ORPHA:1185 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Crouzon Syndrome |
|
Optic atrophy, Proptosis, Shallow orbits, Hypertelorism |
OMIM:123500 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
| Prolidase Deficiency |
|
Proptosis, Abnormality of retinal pigmentation, Splenomegaly, Hypertelorism, Hepatomegaly |
ORPHA:742 |
| Graves Disease |
|
Proptosis |
OMIM:275000 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Proptosis, Hypertelorism |
OMIM:109120 |
| Marshall-Smith Syndrome |
|
Optic atrophy, Proptosis, Hypertelorism |
ORPHA:561 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Muenke Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:53271 |
| Marbach-Rustad Progeroid Syndrome |
|
Ventricular septal hypertrophy, Shallow orbits, Proptosis, Intention tremor |
OMIM:619322 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Proptosis, Pancytopenia, Hypersplenism, Splenomegaly, Hypertelorism, Hepatomegaly |
OMIM:613385 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Proptosis, Leukemia, Retinal hemorrhage, Splenomegaly, Abnormal retinal vascul... |
ORPHA:33226 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
| Donnai-Barrow Syndrome |
|
Proptosis, Ventricular septal defect, Retinal detachment, Hypertelorism, Retinal dystrophy |
OMIM:222448 |
| Ogden Syndrome |
|
Proptosis, Torticollis, Ventricular septal defect |
ORPHA:276432 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystroph... |
ORPHA:391428 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Proptosis, Atrial septal defect, Hypertelorism |
OMIM:602482 |
| 19P13.12 Microdeletion Syndrome |
|
Proptosis, Hypertelorism, Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Proptosis |
OMIM:615381 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic atrophy, Proptosis, Optic nerve compression, Splenomegaly, Anemia, Hepatomegaly |
OMIM:612301 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Proptosis, Ventricular septal defect |
OMIM:617895 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Chops Syndrome |
|
Optic atrophy, Proptosis, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Hypertel... |
OMIM:616368 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Proptosis, Left ventricular hypertrophy, Thrombocytopenia, Hypertelorism, Anemia |
OMIM:611209 |
| Acrofrontofacionasal Dysostosis 2 |
|
Proptosis, Hypertelorism |
OMIM:239710 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Proptosis |
ORPHA:352582 |
| Shashi-Pena Syndrome |
|
Proptosis, Atrial septal defect, Hypertelorism |
OMIM:617190 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proptosis |
ORPHA:2774 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Proptosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Ca... |
OMIM:602782 |
| Trisomy 12P |
|
Proptosis, Hypertelorism |
ORPHA:1699 |
| Wyburn-Mason Syndrome |
|
Retinal vascular malformation, Proptosis |
ORPHA:53719 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Hypomandibular Faciocranial Dysostosis |
|
Proptosis, Atrial septal defect, Optic disc coloboma |
ORPHA:1790 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Proptosis, Hypertelorism |
OMIM:620250 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Proptosis, Atrial septal defect, Hypertelorism |
ORPHA:261311 |
| Whipple Disease |
|
Proptosis, Splenomegaly, Anemia, Myocarditis, Hepatomegaly, Pericarditis |
ORPHA:3452 |
| Craniosynostosis 4 |
|
Proptosis, Hypertelorism, Optic nerve hypoplasia |
OMIM:600775 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Proptosis, Shallow orbits, Hypertelorism |
ORPHA:73230 |
| Refsum Disease, Classic |
|
Cardiomegaly, Rod-cone dystrophy, Cardiomyopathy, Retinal degeneration |
OMIM:266500 |
| Acrocardiofacial Syndrome |
|
Proptosis, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, A... |
ORPHA:2008 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Restrictive Dermopathy 2 |
|
Proptosis |
OMIM:619793 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Proptosis, Splenomegaly, Ventricular septal defect, Hypertelorism, Hepatomegaly |
OMIM:235255 |
| Melnick-Needles Syndrome |
|
Proptosis, Abnormal cardiac septum morphology, Hypertelorism |
ORPHA:2484 |
| Machado-Joseph Disease |
|
Dystonia, Proptosis |
OMIM:109150 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Proptosis, Hypertelorism |
OMIM:618580 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Proptosis |
ORPHA:440354 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Proptosis, Hypertelorism |
OMIM:618529 |
| Bohring-Opitz Syndrome |
|
Proptosis, Abnormal optic nerve morphology, Ventricular septal defect, Atrial septal defect, Hype... |
OMIM:605039 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Proptosis, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left... |
OMIM:245600 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Proptosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decrease... |
ORPHA:508533 |
| Familial Gestational Hyperthyroidism |
|
Proptosis, Hand tremor |
ORPHA:99819 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutr... |
ORPHA:228426 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Proptosis, Right ventricular hypertrophy |
ORPHA:423461 |
| Marshall Syndrome |
|
Proptosis, Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Hypertelorism |
ORPHA:560 |
| Machado-Joseph Disease Type 1 |
|
Dystonia, Proptosis |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Dystonia, Proptosis |
ORPHA:276241 |
| Cole-Carpenter Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:616294 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| ERI1-related disease |
|
Abnormal heart morphology, Proptosis, Ventricular septal defect |
OMIM:608739 |
| Pfeiffer Syndrome Type 1 |
|
Proptosis, Hypertelorism |
ORPHA:93258 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Kniest Dysplasia |
|
Proptosis, Vitreoretinopathy, Retinal detachment, Rhegmatogenous retinal detachment, Lattice reti... |
ORPHA:485 |
| Congenital Myopathy 22A, Classic |
|
Proptosis, Deeply set eye |
OMIM:620351 |
| Kniest Dysplasia |
|
Proptosis, Retinal detachment |
OMIM:156550 |
| Sclerosteosis 1 |
|
Optic atrophy, Papilledema, Proptosis, Hypertelorism |
OMIM:269500 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Proptosis |
ORPHA:2409 |
| Atelosteogenesis Type I |
|
Retinal dysplasia, Proptosis, Hypertelorism |
ORPHA:1190 |
| Thanatophoric Dysplasia Type 1 |
|
Proptosis, Atrial septal defect |
ORPHA:1860 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Cole-Carpenter Syndrome 1 |
|
Proptosis, Shallow orbits |
OMIM:112240 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Proptosis, Hand tremor |
ORPHA:424 |
| Distal Deletion 9P |
|
Proptosis, Hypertelorism |
ORPHA:1642 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Optic atrophy, Proptosis, Hypertelorism |
ORPHA:1555 |
| Cardiofaciocutaneous Syndrome 1 |
|
Proptosis, Hypertrophic cardiomyopathy, Splenomegaly, Optic nerve dysplasia, Atrial septal defect... |
OMIM:115150 |
| Machado-Joseph Disease Type 3 |
|
Dystonia, Proptosis |
ORPHA:276244 |
| Acrocraniofacial Dysostosis |
|
Proptosis, Hypertelorism |
ORPHA:949 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis |
ORPHA:1323 |
| Lateral Meningocele Syndrome |
|
Proptosis, Hypertelorism, Ventricular septal defect |
ORPHA:2789 |
| Cenani-Lenz Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:3258 |
| Desbuquois Dysplasia 1 |
|
Proptosis |
OMIM:251450 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hypertelorism, Ventricular septal defect |
OMIM:616897 |
| Hennekam-Beemer Syndrome |
|
Proptosis, Mastocytosis, Optic atrophy |
ORPHA:2135 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Antley-Bixler Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:83 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Distal Deletion 10Q |
|
Proptosis, Atrial septal defect, Hypotelorism |
ORPHA:96148 |
| Saul-Wilson Syndrome |
|
Proptosis, Neutropenia |
OMIM:618150 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| H Syndrome |
|
Proptosis, Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Enlarged kidney |
ORPHA:168569 |
| Trichohepatoenteric Syndrome 1 |
|
Proptosis, Tetralogy of Fallot, Splenomegaly, Ventricular septal defect, Thrombocytosis, Hepatome... |
OMIM:222470 |
| Baller-Gerold Syndrome |
|
Proptosis, Hypotelorism, Abnormal cardiac septum morphology, Hypertelorism |
ORPHA:1225 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormal heart morphology, Proptosis |
ORPHA:1865 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Alg9-Cdg |
|
Proptosis, Abnormal heart morphology, Ventricular septal defect, Hepatomegaly, Shallow orbits, At... |
ORPHA:79328 |
| Otospondylomegaepiphyseal Dysplasia |
|
Proptosis |
ORPHA:1427 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Xylt1-Cdg |
|
Hepatomegaly, Proptosis |
ORPHA:370930 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Proptosis, Torticollis |
ORPHA:370348 |
| Premature Aging Syndrome, Penttinen Type |
|
Proptosis, Hypotelorism, Hypermyelinated retinal nerve fibers, Shallow orbits, Hypertelorism |
OMIM:601812 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Shallow orbits, Proptosis, Intention tremor, Optic nerve hypoplasia |
OMIM:620029 |
| 2Q31.1 Microdeletion Syndrome |
|
Proptosis, Optic disc coloboma, Ventricular septal defect, Atrial septal defect, Hypertelorism |
ORPHA:251014 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiom... |
OMIM:618278 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Proptosis, Mitral valve prolapse, Deeply set eye |
OMIM:616914 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Sandhoff Disease |
|
Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response, He... |
OMIM:268800 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Opisthotonus, Anemia, Thrombocytopenia, Hypertelo... |
OMIM:608013 |
| 20Q11.2 Microduplication Syndrome |
|
Proptosis, Lingual dystonia |
ORPHA:363659 |
| Dysostosis, Stanescu Type |
|
Proptosis, Hypertelorism |
ORPHA:1798 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Proptosis |
ORPHA:158000 |
| Dural Sinus Malformation |
|
Papilledema, Proptosis |
ORPHA:97339 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Anemia, Proptosis, Anisopoikilocytosis |
OMIM:615789 |
| Donohue Syndrome |
|
Proptosis |
OMIM:246200 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Proptosis, Hypotelorism |
ORPHA:2215 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Proptosis, Cardiomegaly, Retinal atrophy, Abnormal cardiac septum morphology, Hype... |
ORPHA:97297 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Proptosis, Tremor, Deeply set eye, Hypertelorism, Dystonia |
OMIM:300966 |
| Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Hypotelorism |
OMIM:142945 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Proptosis, Hypertelorism |
OMIM:156400 |
| Apert Syndrome |
|
Optic atrophy, Proptosis, Hypertelorism |
ORPHA:87 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defe... |
ORPHA:79330 |
| Bainbridge-Ropers Syndrome |
|
Proptosis, Hypertelorism, Deeply set eye |
OMIM:615485 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Proptosis, Atrial septal defect |
OMIM:207410 |
| Prader-Willi Syndrome Due To Translocation |
|
Proptosis, Abnormal heart morphology, Patent foramen ovale, Deeply set eye, Hypotelorism, Hyperte... |
ORPHA:177907 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Proptosis, Optic nerve compression, Ventricular septal defect, Hypertelorism, Opti... |
OMIM:619727 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomyopathy, Tremor, Cardiomegaly, Amyloid deposition in the vitreous humor, Intention tremor |
OMIM:105210 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proptosis, Atrial septal defect, Ventricular septal defect |
OMIM:620663 |
| Fibrochondrogenesis 1 |
|
Proptosis, Patent foramen ovale |
OMIM:228520 |
| Loeys-Dietz Syndrome 5 |
|
Proptosis, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypertelorism |
OMIM:615582 |
| Camurati-Engelmann Disease |
|
Anemia, Optic nerve compression, Proptosis |
OMIM:131300 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Proptosis, Patent foramen ovale, Ventricular septal ... |
OMIM:300855 |
| Fibrochondrogenesis |
|
Proptosis, Hypertelorism |
ORPHA:2021 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Proptosis, Shallow orbits, Mitral valve prolapse, Hypertelorism |
OMIM:182212 |
| Neuroblastoma |
|
Anemia, Proptosis, Thrombocytopenia |
ORPHA:635 |
| Neu-Laxova Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:616038 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Proptosis, Hypertelorism |
OMIM:123790 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Proptosis, Mitral valve prolapse, Ventricular septal defect, Paten... |
OMIM:249420 |
| Pycnodysostosis |
|
Hepatosplenomegaly, Proptosis |
ORPHA:763 |
| Pfeiffer Syndrome Type 2 |
|
Proptosis, Hypertelorism |
ORPHA:93259 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Proptosis, Hypertelorism |
OMIM:616331 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Proptosis |
OMIM:215150 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Proptosis, Patent foramen ovale, Ventricular septal defect, Hypertelorism, Hypoplastic right heart |
OMIM:616894 |
| Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Anemia, Proptosis, Abnormal aortic valve morphology |
ORPHA:35687 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Proptosis, Resting tremor, Abnormal retinal vascular morphology, Hypermyelinated r... |
ORPHA:909 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Proptosis |
ORPHA:85184 |
| Shprintzen-Goldberg Syndrome |
|
Proptosis, Abnormal aortic valve morphology, Mitral valve prolapse, Hypertelorism |
ORPHA:2462 |
| Cole-Carpenter Syndrome |
|
Proptosis |
ORPHA:2050 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Proptosis, Hypertrophic cardiomyopathy, Leukopenia, Optic nerve compression, Splen... |
ORPHA:1328 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Pfeiffer Syndrome Type 3 |
|
Proptosis, Hypertelorism |
ORPHA:93260 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Proptosis, Deeply set eye |
OMIM:620369 |
| Fucosidosis |
|
Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hypertelorism, Hepatomegaly, Vacuolate... |
OMIM:230000 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Proptosis |
OMIM:619234 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Proptosis |
OMIM:615803 |
| Neu-Laxova Syndrome |
|
Opisthotonus, Proptosis, Hypertelorism |
ORPHA:2671 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Proptosis, Optic disc coloboma, Abnormal heart valve morphology, Atrial se... |
ORPHA:536471 |
| Apert Syndrome |
|
Proptosis, Ventricular septal defect, Overriding aorta, Shallow orbits, Hypertelorism |
OMIM:101200 |
| Alpha-Mannosidosis, Infantile Form |
|
Proptosis, Hepatosplenomegaly, Pancytopenia, Hypertelorism, Optic disc pallor |
ORPHA:309282 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
OMIM:608612 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Proptosis, Mitral valve prolapse, Hypertelorism |
OMIM:259600 |
| Localized Scleroderma |
|
Proptosis, Deeply set eye |
ORPHA:90289 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Proptosis, Patent foramen ovale, Hypertelorism |
ORPHA:457395 |
| Cornelia De Lange Syndrome 1 |
|
Optic atrophy, Proptosis, Optic disc coloboma, Ventricular septal defect, Thrombocytopenia |
OMIM:122470 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Torticollis |
OMIM:617022 |
| Zygomycosis |
|
Brain abscess, Proptosis, Retinal arterial occlusion, Retinal detachment, Splenic abscess, Neutro... |
ORPHA:73263 |
| Nestor-Guillermo Progeria Syndrome |
|
Right atrial enlargement, Left atrial enlargement, Proptosis |
OMIM:614008 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
| Beckwith-Wiedemann Syndrome |
|
Proptosis, Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy |
OMIM:619259 |
| Marshall-Smith Syndrome |
|
Proptosis, Ventricular septal defect, Shallow orbits, Atrial septal defect, Dysplastic aortic val... |
OMIM:602535 |
| Desbuquois Dysplasia 2 |
|
Proptosis |
OMIM:615777 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Proptosis, Peripapillary atrophy, Mitral valve prolapse, Torticollis |
ORPHA:536467 |
| Noonan Syndrome |
|
Proptosis, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Abnormality of the sple... |
ORPHA:648 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Proptosis |
OMIM:615349 |
| Autosomal Recessive Robinow Syndrome |
|
Proptosis, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricuspid valve mor... |
ORPHA:1507 |
| Kosaki Overgrowth Syndrome |
|
Proptosis |
OMIM:616592 |
| Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Proptosis, Abnormal heart valve morphology, Retinopathy, Atrial septal defect, Abn... |
ORPHA:280 |
| Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Chorioretinal atrophy, Proptosis, Atrial septal defect |
OMIM:600268 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Proptosis, Attenuation of retinal blood vessels, Hypotelorism, Optic disc pallor, Optic nerve hyp... |
ORPHA:468631 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Retinoblastoma |
|
Proptosis, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinob... |
ORPHA:790 |
| Fanconi Anemia |
|
Proptosis, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Leukopenia, Abnormal aortic valve mo... |
ORPHA:84 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Proptosis, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia |
ORPHA:163979 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Degcags Syndrome |
|
Proptosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Patent foramen ovale, Ventricular septal... |
OMIM:619488 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Proptosis, Coronary artery stenosis, Right vent... |
ORPHA:75565 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Proptosis, Hypertelorism, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
| Robinow Syndrome |
|
Proptosis, Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, Atrial ... |
ORPHA:97360 |
| Hyperthyroidism, Nonautoimmune |
|
Proptosis |
OMIM:609152 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proptosis, Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification, Shallo... |
OMIM:619127 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Proptosis, Hypertelorism |
ORPHA:264200 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Meier-Gorlin Syndrome 7 |
|
Proptosis, Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:617063 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Proptosis, Chorioretinal coloboma, Ventricular septal defect, Deeply set eye, Bicuspid aortic val... |
OMIM:619475 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
| Arboleda-Tham Syndrome |
|
Optic atrophy, Secundum atrial septal defect, Proptosis, Ventricular septal defect, Deeply set ey... |
OMIM:616268 |
| Raine Syndrome |
|
Proptosis, Hypertelorism |
OMIM:259775 |
| Granulomatosis With Polyangiitis |
|
Retinopathy, Proptosis, Granulomatosis, Pericarditis |
ORPHA:900 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:2211 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Proptosis, Abnormal heart morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
| Proboscis Lateralis |
|
Proptosis, Optic disc coloboma, Chorioretinal coloboma, Ventricular septal defect, Hypertelorism,... |
ORPHA:141099 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Proptosis, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
ORPHA:818 |
| Atelosteogenesis, Type I |
|
Proptosis, Hypertelorism |
OMIM:108720 |
| Keppen-Lubinsky Syndrome |
|
Opisthotonus, Proptosis, Shallow orbits |
OMIM:614098 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Optic atrophy, Proptosis, Chorioretinal coloboma |
OMIM:210730 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Proptosis |
ORPHA:90153 |
| Congenital Myopathy 17 |
|
Proptosis |
OMIM:618975 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell count, Anemia, Thr... |
OMIM:620376 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Proptosis, Hypertrophic cardiomyopathy, Splenomegaly, Choroideremia,... |
ORPHA:116 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
ORPHA:90154 |
| Liver Disease, Severe Congenital |
|
Proptosis, Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, ... |
OMIM:619991 |
| Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, Accessory spleen, Proptosis, Mitral valve prolapse, Ventricular septal de... |
OMIM:180849 |
| Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Proptosis, Mitral valve prolapse, Hypertelorism |
OMIM:309350 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Proptosis |
OMIM:248370 |
| Catel-Manzke Syndrome |
|
Proptosis, Ventricular septal defect, Overriding aorta, Dextrocardia, Hypertelorism |
OMIM:616145 |
| Specc1L-Related Hypertelorism Syndrome |
|
Proptosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Hypertelorism |
ORPHA:1519 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Hypertelorism |
ORPHA:2463 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia, Proptosis |
ORPHA:93315 |
| Osteoglophonic Dysplasia |
|
Proptosis, Shallow orbits, Hypertelorism |
OMIM:166250 |
| Keppen-Lubinsky Syndrome |
|
Opisthotonus, Proptosis, Shallow orbits |
ORPHA:435628 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy |
OMIM:608836 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Pigmentary retinopathy, Splenomegaly, Abnormal aortic valve morphology, Abnormal m... |
ORPHA:581 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Proptosis, Abnormal optic nerve morphology, Thrombocytopenia |
ORPHA:79078 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Proptosis, Patent foramen ovale, Hypertelorism |
ORPHA:221120 |
| Meester-Loeys Syndrome |
|
Proptosis, Mitral valve prolapse, Hypertelorism |
OMIM:300989 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Proptosis, Microcytic anemia, Splenomegaly, Cardiomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:256040 |
| Toriello-Lacassie-Droste Syndrome |
|
Proptosis |
ORPHA:3339 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Abnormal heart morphology, Proptosis, Hypertelorism |
OMIM:268310 |
| X-Linked Intellectual Disability, Snyder Type |
|
Proptosis, Hypertelorism |
ORPHA:3063 |
| Osteogenesis Imperfecta, Type Viii |
|
Proptosis |
OMIM:610915 |
| Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Acanthocytosis, Reticulocytosis, Abnormality of retinal pigmentat... |
ORPHA:14 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Proptosis, Hypertelorism |
OMIM:617011 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Bicuspid aortic valve, Proptosis, Atrial septal defect, Ventricular septal defect |
OMIM:271640 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Cantú Syndrome |
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Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Schinzel-Giedion Syndrome |
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Proptosis, Abnormal heart morphology, Shallow orbits, Myeloid leukemia, Hypertelorism |
ORPHA:798 |
| Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Isolated Exencephaly |
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Proptosis |
ORPHA:563612 |
| Yunis-Varon Syndrome |
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Proptosis, Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:3472 |
| Roberts Syndrome |
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Proptosis, Thrombocytopenia, Hypertelorism |
ORPHA:3103 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Abnormal heart morphology, Proptosis, Patent foramen ovale, Ventricular septal defect |
ORPHA:444077 |
| Mullegama-Klein-Martinez Syndrome |
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Hypoplastic left heart, Apical muscular ventricular septal defect, Proptosis |
OMIM:301022 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Proptosis, Shallow orbits, Hypertelorism |
ORPHA:457359 |
| Holoprosencephaly 2 |
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Proptosis, Chorioretinal coloboma, Hypotelorism, Remnants of the hyaloid vascular system, Single ... |
OMIM:157170 |
| Fontaine Progeroid Syndrome |
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Proptosis, Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hypertrophy, Atrial... |
OMIM:612289 |
| Stickler Syndrome |
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Proptosis, Mitral valve prolapse, Abnormal vitreous humor morphology, Retinal detachment, Retinal... |
ORPHA:828 |
| Mucolipidosis Ii Alpha/Beta |
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Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hypertelorism, Hepatomegaly, Enlarged ki... |
OMIM:252500 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Proptosis |
ORPHA:85199 |
| Wiedemann-Rautenstrauch Syndrome |
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Secundum atrial septal defect, Proptosis, Hypotelorism, Deeply set eye, Hypoplasia of the thymus,... |
OMIM:264090 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Retinal arterial tortuosity, Splenic cyst, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhag... |
OMIM:620371 |
| Interatrial Communication |
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Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Proptosis, Hypertelorism |
OMIM:130070 |
| 17Q11 Microdeletion Syndrome |
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Proptosis, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal choroid morphology, D... |
ORPHA:97685 |
| Viss Syndrome |
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Coronary sinus enlargement, Proptosis, Hypereosinophilia, Right ventricular hypertrophy, Mitral v... |
OMIM:619472 |
| Blomstrand Lethal Chondrodysplasia |
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Proptosis |
ORPHA:50945 |
| Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Meningioma |
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Papilledema, Proptosis |
ORPHA:2495 |
| Elsahy-Waters Syndrome |
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Increased cup-to-disc ratio, Proptosis, Hypertelorism |
OMIM:211380 |
| Autosomal Dominant Robinow Syndrome |
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Proptosis, Hypertelorism |
ORPHA:3107 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Loeys-Dietz Syndrome 2 |
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Proptosis, Patent foramen ovale, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defe... |
OMIM:610168 |
| Loeys-Dietz Syndrome 1 |
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Proptosis, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Hypertelorism, Bic... |
OMIM:609192 |
| Truncus Arteriosus |
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Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
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Cardiomegaly |
OMIM:620306 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Cardiomegaly, Bicuspid aortic valve, Hypertelorism |
ORPHA:91387 |
| Neurofibromatosis Type 1 |
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Chronic myelogenous leukemia, Proptosis, Chorioretinal coloboma, Abnormality of retinal pigmentat... |
ORPHA:636 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Glycogen Storage Disease Ii |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Cardiomegaly, Shallow orbits, Ventricular septal defect |
ORPHA:96191 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Proptosis, Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, Ventric... |
OMIM:210710 |
| Congenital Tracheomalacia |
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Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Branchioskeletogenital Syndrome |
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Proptosis, Hypertelorism |
ORPHA:1299 |
| Orofaciodigital Syndrome Type 4 |
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Proptosis, Hypertelorism |
ORPHA:2753 |
| Neu-Laxova Syndrome 1 |
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Proptosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, ... |
OMIM:256520 |
| Wolf-Hirschhorn Syndrome |
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Accessory spleen, Proptosis, Ventricular septal defect, Atrial septal defect, Hypertelorism |
OMIM:194190 |
| Proteus Syndrome |
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Retinal nonattachment, Thymus hyperplasia, Proptosis, Chorioretinal coloboma, Splenomegaly, Abnor... |
ORPHA:744 |
| Absence Of The Pulmonary Artery |
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Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Tremor, Ca... |
ORPHA:51 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
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Proptosis, Right ventricular dilatation, Hypertelorism |
OMIM:614437 |
| Histiocytoid Cardiomyopathy |
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Hepatomegaly, Optic atrophy, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Familial Idiopathic Dilatation Of The Right Atrium |
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Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Proptosis, Mitral valve prolapse, Bicuspid aortic valve, Left ventricula... |
OMIM:613795 |
| Fetal Akinesia Deformation Sequence 1 |
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Proptosis, Hypertelorism |
OMIM:208150 |
| Craniosynostosis And Dental Anomalies |
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Papilledema, Proptosis, Hypertelorism |
OMIM:614188 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Proptosis, Hypertelorism |
OMIM:180700 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Proptosis, Hypertelorism |
OMIM:271665 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Proptosis |
ORPHA:2636 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Proptosis, Ventricular septal defect, Shallow orbits, Atrial septal defect, Hyp... |
OMIM:268300 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Osteogenesis Imperfecta, Type Vii |
|
Proptosis |
OMIM:610682 |
| Retinitis Pigmentosa 33 |
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Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Williams Syndrome |
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Hypertrophic cardiomyopathy, Tetralogy of Fallot, Retinal arteriolar tortuosity, Mitral valve pro... |
ORPHA:904 |
| Vascular Ehlers-Danlos Syndrome |
|
Proptosis, Abnormal heart valve morphology, Mitral valve prolapse, Deeply set eye, Hypertelorism |
ORPHA:286 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Proptosis, Hypertelorism |
OMIM:201750 |
| Yunis-Varon Syndrome |
|
Proptosis, Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, ... |
OMIM:216340 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Proptosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial ... |
OMIM:601803 |
| Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... |
ORPHA:791 |
