Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:615524 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Death in childhood, Death in infancy, Ps... |
OMIM:243150 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft ... |
ORPHA:1166 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Ad... |
OMIM:220210 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery at... |
OMIM:601186 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Diabetic Embryopathy |
|
Ureteral duplication, Frontal bossing, Ventricular septal defect, Cryptorchidism, Hydrocephalus, ... |
ORPHA:1926 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology |
OMIM:105805 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Midface retrusion, Ventricular septal defect, Abnormality of the dentit... |
OMIM:179613 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Median cleft lip, A... |
ORPHA:3378 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Right aortic a... |
OMIM:231060 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, Anemia, Aplasia... |
ORPHA:290 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... |
OMIM:613885 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Redundant skin, Adrenal hypoplasia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prol... |
OMIM:613177 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Short stature, Intestinal malrotation, Submucous c... |
ORPHA:3426 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal defect, Hypospadia... |
OMIM:618316 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Trisomy 1Q |
|
Frontal bossing, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Camptodac... |
ORPHA:261344 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Short stature, Thoracic aortic aneurysm, Asplenia, Intes... |
OMIM:619657 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Narrow p... |
OMIM:617022 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Polyhydramnios, Leukopenia, Pulmonary artery atresia, Vesicoureteral reflux,... |
OMIM:301056 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... |
OMIM:300400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... |
OMIM:617241 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... |
ORPHA:77298 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Pallor, Dys... |
OMIM:613561 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... |
OMIM:613759 |
Dextrocardia |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of the spleen, Hydrocep... |
ORPHA:1666 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Short stature, Ventricular septal defect, Megaloblastic anemia, Stroke, Pallor... |
ORPHA:49827 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... |
OMIM:618845 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... |
ORPHA:182050 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous i... |
ORPHA:90308 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Turricephaly, Palpebral edema, Dolichocephaly, Cryptorchidism, Cleft palate, Abnormal heart morph... |
OMIM:214110 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ... |
ORPHA:163596 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Colitis, Hypoplasia of the thymus, Hepatoblastoma, Atrial... |
ORPHA:84064 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hy... |
ORPHA:2470 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal lung lobation,... |
ORPHA:2538 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... |
ORPHA:244 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Stroke, Limb muscle weakness, Pallor |
ORPHA:90064 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... |
OMIM:253300 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the great art... |
OMIM:306955 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Polyhydramnios, Anorectal anomaly, Abnormal lung lobation, Abnormal aor... |
ORPHA:567 |
Scimitar Syndrome |
|
Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal... |
ORPHA:185 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... |
OMIM:612541 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... |
OMIM:615731 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... |
OMIM:615631 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Cryp... |
ORPHA:401935 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Aplasia... |
ORPHA:40366 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencep... |
ORPHA:2189 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia, Tetralogy of Fallot |
ORPHA:217 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia |
OMIM:164180 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Short stature, Abnormal pulmonary valve morpho... |
ORPHA:500 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Ren... |
OMIM:612946 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Optic nerve hypoplasia, Decreased response to growth ho... |
OMIM:609053 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Endoca... |
ORPHA:60041 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, ... |
ORPHA:848 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Short stature, Decreased response to growth hormone st... |
OMIM:618223 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... |
ORPHA:436252 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Short lingual frenulum, Anomalous origin of left co... |
ORPHA:2326 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hypoplasi... |
ORPHA:231226 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
Holoprosencephaly |
|
Hypoplasia of penis, Flat occiput, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of ... |
ORPHA:2162 |
Tetralogy Of Fallot |
|
Cryptorchidism, Thin vermilion border, Dolichocephaly, Intrauterine growth retardation, Tetralogy... |
ORPHA:3303 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Ventricular septal defect, Sho... |
OMIM:620210 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, Brachycephaly, Widely spaced teeth, High palate, Solitary medi... |
ORPHA:66625 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Pallor,... |
ORPHA:124 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Pallor, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate pr... |
ORPHA:231214 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short stature,... |
OMIM:618330 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... |
OMIM:600462 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Microphthalmia |
ORPHA:3434 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... |
ORPHA:1208 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Splenomegaly, Skin... |
ORPHA:507 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Postnatal growth retar... |
OMIM:206920 |
Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenu... |
ORPHA:2919 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, High palate, Pallor, Neutropenia, Atrial septal defect, Spina bifida occulta, ... |
OMIM:105650 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hypospadias, Ventricular septal defect, Short stature, Pyloric stenosis, Patent ... |
OMIM:218350 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Short philtrum, Widely spaced teeth, Subvalvular aortic stenosis, Cleft lip, Pulmo... |
OMIM:280000 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Ab... |
ORPHA:1131 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate... |
ORPHA:3304 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Cleft palate, Glossoptosis, At... |
ORPHA:1388 |
Down Syndrome |
|
Redundant neck skin, Brachycephaly, Atrial septal defect, Atrioventricular canal defect, Hypothyr... |
OMIM:190685 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Patent du... |
OMIM:612561 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... |
ORPHA:2515 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
American Trypanosomiasis |
|
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Splenomegaly, Lymphadenopathy, Card... |
ORPHA:3386 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Brachycephaly, Glossoptosis, Hypoplasia of the thymus, High palate, Encephal... |
ORPHA:861 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
German Syndrome |
|
Short stature, Camptodactyly of finger, Lymphedema, Cryptorchidism, Brachycephaly, Dysphagia, Oro... |
ORPHA:2077 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia |
OMIM:614326 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Patent ductus arteriosus, Scaphocephaly, Cranial asymmetry, Hydrocephalus, Growth ... |
OMIM:614886 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Widely spaced teeth, Dolichoc... |
OMIM:619717 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Brachycephaly, High palate, Transposition of the great ar... |
ORPHA:1913 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Abnormal aortic mor... |
ORPHA:3405 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Polyhydramnios, Abnormality of the thyroid gland, Esophag... |
ORPHA:1923 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Gastrointestinal dysmotility, Pallor |
OMIM:500007 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular s... |
ORPHA:477817 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytos... |
ORPHA:3226 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Short stature |
ORPHA:391646 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Non-midline clef... |
ORPHA:1908 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Peau d'orange, Ventricular septal defect, Impaired T cell functio... |
OMIM:614576 |
Esophageal Atresia |
|
Maternal diabetes, Polyhydramnios, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, G... |
ORPHA:1199 |
X-Linked Intellectual Disability, Nascimento Type |
|
Deep philtrum, Downturned corners of mouth, Neutropenia, Vesicoureteral reflux, Micropenis, Paten... |
ORPHA:163956 |
3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, High, narrow palate, Orofacial cleft, Abnormal tricuspid... |
ORPHA:7 |
Prune Belly Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dysplasia, Cryptorchidism, Patent... |
ORPHA:2970 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Growth delay, Aplasia/Hypoplasia of t... |
ORPHA:1727 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Paten... |
OMIM:618494 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Cleft upper l... |
OMIM:147250 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Bronchiectasis, Anemia, Leukopenia, High palate, Long p... |
OMIM:620184 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... |
ORPHA:411986 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... |
OMIM:612158 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage,... |
ORPHA:99931 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Flat occiput, Redundant neck skin, Polyhydramnios, Lymphedema, High palate, Protein-losing entero... |
OMIM:235255 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Recurrent respiratory infections, Eosinophilia, Megaloblas... |
ORPHA:90045 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Spasticity of facial muscles, Pallor, Dysphagia, Difficulty in tongue mov... |
OMIM:606353 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Patent ductus arteriosus, Deep philtrum, High... |
ORPHA:261120 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... |
OMIM:605627 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Webbed neck, Hydranencephaly,... |
OMIM:601355 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atr... |
OMIM:214800 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus... |
ORPHA:94066 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Microphthalmia, An... |
ORPHA:3469 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... |
ORPHA:2712 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... |
OMIM:265380 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... |
OMIM:612938 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... |
OMIM:615297 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Ca... |
ORPHA:1909 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Cryptorchidism, Hydrocephalus, Submuc... |
ORPHA:899 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Renal insufficiency, Purpura, Abnormality of neut... |
ORPHA:33226 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Brachycephaly, High palate, Atrial septal defe... |
OMIM:615582 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Immunodeficiency 9 |
|
Death in infancy, Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, ... |
OMIM:612782 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... |
OMIM:266200 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Short stature, Congenital diaphrag... |
ORPHA:991 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... |
ORPHA:2476 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Hypospadias, Ventricular septal defect, Short... |
OMIM:206900 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... |
OMIM:605376 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Polyhydramnios, Asplenia, Abnormal lung lobation, Hydrops fetalis, High pala... |
ORPHA:99776 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Transposition of the great art... |
ORPHA:261243 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... |
OMIM:608978 |
Digeorge Syndrome |
|
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... |
OMIM:188400 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Adrenal insufficiency, Thick vermilion border, Pulmonic stenosis, Long... |
ORPHA:251076 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos... |
OMIM:611590 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasia of the primary teeth,... |
ORPHA:90322 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... |
OMIM:301043 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Aplastic anemia, Optic disc hypoplasia, Hypergonadot... |
OMIM:300514 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anoma... |
OMIM:115470 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:824 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Gastroesophageal reflux, Holoprosencephaly, Ve... |
ORPHA:138 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus... |
OMIM:249270 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Pallor, Poikilocytos... |
OMIM:615234 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Type I diabetes mellitus, Pallor, Hyperinsulinemic hypoglycemia, Excessive insu... |
ORPHA:276575 |
Wolcott-Rallison Syndrome |
|
Renal insufficiency, Short stature, Neonatal insulin-dependent diabetes mellitus, Chronic kidney ... |
ORPHA:1667 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Bilateral c... |
OMIM:619542 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Short stature, Sagittal craniosynostosis, High palate, Broad alveolar ... |
OMIM:314320 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Brachycephaly, Mitral valv... |
ORPHA:371428 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Decreased circulating antibody level, Wide mouth, Branchi... |
ORPHA:1296 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Abnormal pleura morphology, Myocarditis, Recurrent... |
ORPHA:3099 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Type I diabetes mellitus, Pallor, Hyperinsulinemic hypoglyce... |
ORPHA:276580 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Hypothyroidism, Patent ductus arteriosus, Gastrointesti... |
OMIM:619189 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... |
OMIM:616652 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of... |
OMIM:300166 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Short stature, Impaired T cell function, Cryptorch... |
OMIM:192430 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Dysplas... |
OMIM:612863 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Intrauter... |
OMIM:616276 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Hypochromic microcytic ane... |
ORPHA:54028 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... |
OMIM:618624 |
Distal Deletion 15Q |
|
Flat occiput, Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal aortic arch morpho... |
ORPHA:1596 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Micr... |
OMIM:613730 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Ventricular... |
OMIM:612530 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Brachycephaly, Vesicoureteral reflux, Gastroesophageal reflux, Everted... |
ORPHA:228399 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Redundant neck skin, Abnormall... |
OMIM:249420 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Flat occiput, Ventricular septal defect, Dextrocardia, Congenital diaphragmati... |
OMIM:614294 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Redundant neck skin, Polyhydra... |
ORPHA:1655 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial se... |
OMIM:609029 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... |
ORPHA:139466 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Spina bifida, Aqueductal stenosis, Esophageal atresia, Cryptorchidi... |
ORPHA:3412 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Multiple suture craniosyn... |
ORPHA:3369 |
Peters Plus Syndrome |
|
Ureteral duplication, Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary... |
ORPHA:709 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Premature loss of primary teeth, Brachycephaly, Widely spaced teeth, Thin skin, ... |
OMIM:617364 |
Tyshchenko Syndrome |
|
Short stature, Ventricular septal defect, Supernumerary nipple, Polyhydramnios, High, narrow pala... |
OMIM:615102 |
Pelger-Huet Anomaly |
|
Frontal bossing, Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils... |
OMIM:169400 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Sm... |
OMIM:614526 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Flat occiput, Short stature, Postnatal growth retardation, Cryptorchidi... |
OMIM:613792 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... |
ORPHA:231222 |
Emanuel Syndrome |
|
Multiple joint contractures, Redundant neck skin, Dental crowding, Congenital diaphragmatic herni... |
ORPHA:96170 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum... |
OMIM:612562 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse pancr... |
ORPHA:276556 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Frontal bossing, Thin upper lip vermilion, Short stature, Cleft soft palate, Dental crowding, Abn... |
OMIM:616331 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, High, narrow palate, Crypto... |
ORPHA:1101 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defec... |
OMIM:616651 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Cryptorchidism, Bilateral microphthalmos, Brachycephaly... |
ORPHA:369891 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Renal hypoplasia, C... |
ORPHA:85284 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Ureth... |
OMIM:314390 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Crypto... |
ORPHA:3306 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Atria... |
OMIM:617602 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Severe short stature, Facial palsy, Fac... |
ORPHA:2780 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Short statu... |
OMIM:301068 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... |
OMIM:618164 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Deep philtrum, H... |
OMIM:606003 |
Abetalipoproteinemia |
|
Ataxia, Retinopathy, Retinal degeneration, Acanthocytosis |
OMIM:200100 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Horseshoe kidney, Renal cyst, Cleft palate, L... |
OMIM:614815 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ... |
ORPHA:98870 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Hypospadias, Dental crowding, C... |
OMIM:219000 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Short stature, Hypergonadotropic hypogonadism, Ectopic k... |
OMIM:227645 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... |
ORPHA:329971 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism,... |
OMIM:610125 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent du... |
OMIM:618652 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Short stature, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, ... |
ORPHA:250999 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Rhizomelia, Ventricular septal defect, Downturned corners of m... |
ORPHA:93267 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Flexion contracture, Brachy... |
OMIM:616897 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse... |
OMIM:235510 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylg... |
OMIM:557000 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteri... |
ORPHA:251071 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Frontal bossing, Bicuspid aortic valve, Short stature, Cleft soft palate, Abnormality of the dent... |
OMIM:618529 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficienc... |
OMIM:619488 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cry... |
ORPHA:404440 |
Even-Plus Syndrome |
|
Severe short stature, Vesicoureteral reflux, Renal hypoplasia, Brachycephaly, High palate, Hypodo... |
OMIM:616854 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Abnormal palate... |
ORPHA:1381 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... |
OMIM:619980 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending ... |
OMIM:619503 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... |
OMIM:620183 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect,... |
OMIM:619227 |
Holoprosencephaly 14 |
|
Frontal bossing, Median cleft lip, Ventricular septal defect, Proboscis, Alobar holoprosencephaly... |
OMIM:619895 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Short stature, Intestinal malrotation, Velopharyngeal insufficiency, Su... |
OMIM:614701 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... |
ORPHA:320406 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Frontal bossing, Thin upper lip vermilion, Bicuspid aortic valve... |
ORPHA:457279 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... |
OMIM:619769 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Short s... |
OMIM:227646 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic a... |
ORPHA:2345 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Brachycephaly, Anteriorly placed anus, High pala... |
OMIM:619148 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Anophthalmia, Edema, Lymphedema, Skin ulcer, Pleural effusion, Thick vermil... |
ORPHA:2526 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hypoplasia of the iris, Gastroesophageal reflux, Multicystic kid... |
ORPHA:2092 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Polyhydramnios, Brachycephaly, Nephrocalcinosis, Dow... |
ORPHA:79500 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary art... |
OMIM:611812 |
Giant Cell Arteritis |
|
Glossitis, Renal insufficiency, Pericarditis, Diabetes insipidus, Abnormal pleura morphology, Med... |
ORPHA:397 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, E... |
ORPHA:974 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Short stature, Optic nerve h... |
OMIM:615583 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Splenomegaly, Esophageal varix, Renal hypoplasia, Truncus arteriosus, ... |
OMIM:616589 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplasia, Ureteral age... |
OMIM:617666 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Craniosynostosis, Intestinal ... |
ORPHA:457193 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... |
OMIM:616920 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Ga... |
OMIM:117650 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Dental crowding, Polyhydramni... |
OMIM:300990 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreas... |
ORPHA:300298 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Decreased calvarial ossification,... |
ORPHA:2772 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary v... |
ORPHA:137634 |
Fumarase Deficiency |
|
Frontal bossing, Necrotizing enterocolitis, Increased urine succinate level, Polyhydramnios, Elev... |
OMIM:606812 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Anophthalmia, Foot joint contracture, Proteinuria, Delayed eruption of prima... |
ORPHA:90321 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch... |
ORPHA:2059 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Anophthalmia, Congenital diaphragma... |
ORPHA:2556 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Abnormality of the anterior ... |
ORPHA:75389 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Cryptorchidism, Patent ductus arteriosu... |
OMIM:615355 |
Filippi Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Thin vermilion border, S... |
OMIM:272440 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic kidney, Crypt... |
OMIM:600901 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Intracranial hemorrhage, Colitis, Pallor, N... |
ORPHA:3260 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Aganglionic megacolon |
ORPHA:895 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Short stature, Dental crowding, Pierre-Robin sequence, Anterior open-bi... |
OMIM:617877 |
Carpenter Syndrome 1 |
|
Brachycephaly, High palate, Atrial septal defect, Spina bifida occulta, Short stature, Sagittal c... |
OMIM:201000 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cleft upper lip, Renal hypop... |
OMIM:608572 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Chorea, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Fg Syndrome Type 1 |
|
Dental crowding, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal defect, Hypospa... |
ORPHA:93932 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Short stature, Polyhydr... |
OMIM:617360 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral refl... |
OMIM:616894 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Short stature, Craniosynostosis, Abnormality of the urethra, Brachycephaly, Cleft p... |
ORPHA:2145 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Hi... |
ORPHA:453499 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Edema, Pericardial effusion, Brachycephaly, Hepatosplenomegaly, Wide mouth, Abno... |
OMIM:608776 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate... |
ORPHA:435638 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... |
ORPHA:2257 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Microphthalmia, Leukemia, Smooth philtrum |
OMIM:602501 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Cryptorchidism, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted ... |
OMIM:616789 |
Orofaciodigital Syndrome V |
|
Frontal bossing, Recurrent respiratory infections, Median cleft lip, Ventricular septal defect, A... |
OMIM:174300 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic kidney, Crypt... |
OMIM:227650 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Leukoc... |
ORPHA:2331 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W... |
OMIM:617635 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal defect, Cryptorchi... |
OMIM:618950 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Dental crowding, Abnormal lung lobation, Orofacial cleft, Uret... |
ORPHA:2052 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Neonatal death, Patent foramen ovale,... |
OMIM:269860 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... |
OMIM:618067 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Short stature, Proteinuria, Minimal chang... |
OMIM:618348 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten... |
ORPHA:2306 |
Tempi Syndrome |
|
Transudative pleural effusion, Facial erythema, Intracranial hemorrhage, Increased circulating Ig... |
ORPHA:284227 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Myopathy, Increased variability in muscle fiber diamet... |
OMIM:616816 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episode, Renal ... |
ORPHA:137675 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Scaph... |
OMIM:619149 |
Eec Syndrome |
|
Hypospadias, Short stature, Decreased response to growth hormone stimulation test, Abnormal denta... |
ORPHA:1896 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylglutaric aciduria, ... |
OMIM:246450 |
Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short philtru... |
OMIM:601808 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, C... |
OMIM:600987 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Splenomegaly... |
ORPHA:98849 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Ataxia, Optic atrophy, Increased mean platelet volume |
OMIM:616737 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Joubert Syndrome 15 |
|
Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Cryptorchidism, Brac... |
ORPHA:228390 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Edema, Intestinal perforation, Gastrointestinal infarctions, Pallor, Nephrotic range prot... |
ORPHA:544482 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Flexion contracture, Brachycephaly, Downturned corners of mouth, H... |
OMIM:264090 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:619314 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Natal tooth, Ventricular septal defect, Short stature, Proteinuria, Sagittal cr... |
OMIM:616901 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Sagitt... |
OMIM:618027 |
Desmosterolosis |
|
Frontal bossing, Severe short stature, Intestinal malrotation, Splenomegaly, Patent ductus arteri... |
ORPHA:35107 |
Fibular Hemimelia |
|
Anophthalmia, Craniosynostosis, Spina bifida, Abnormal heart morphology, Thrombocytopenia |
ORPHA:93323 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
ORPHA:276608 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... |
ORPHA:139471 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... |
OMIM:600001 |
Coffin-Siris Syndrome 11 |
|
Frontal bossing, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, ... |
OMIM:618779 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal reflux, Short p... |
OMIM:300967 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... |
OMIM:600460 |
Sepsis In Premature Infants |
|
Petechiae, Edema, Splenomegaly, Leukocytosis, Gastrointestinal dysmotility, Oliguria, Enterocolit... |
ORPHA:90051 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular cana... |
OMIM:619343 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the philtrum, Non-midline cleft lip, Abn... |
ORPHA:1770 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Holoprosencephaly, Atrial septal defect, Short stature, Spina bi... |
ORPHA:3380 |
Mosaic Trisomy 1 |
|
Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic her... |
ORPHA:1692 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,... |
ORPHA:500159 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Polyh... |
OMIM:605275 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosi... |
ORPHA:2008 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Diabetes mellitus, Short stature, Female hypogonadism, Decreased... |
OMIM:208900 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Death in infancy, Aplasia/Hypoplasia of the tongue, Trigonoceph... |
ORPHA:1790 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Po... |
OMIM:300963 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the dentition, Cleft palate, Short philt... |
ORPHA:261190 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia |
ORPHA:1203 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Hyposp... |
ORPHA:1708 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spinal dysra... |
OMIM:617660 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Spina b... |
ORPHA:1393 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Cryp... |
OMIM:244300 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Shor... |
OMIM:130720 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Flexion contracture, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septa... |
OMIM:605039 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Short stature, Ventricular septal defect, Congenital diaphragma... |
OMIM:616777 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Short stature, Trigonocephaly, Hypogonadotropic h... |
OMIM:617159 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus ... |
OMIM:601927 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Probo... |
ORPHA:141099 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal pulmonary valve morphology,... |
ORPHA:667 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Flat occiput, Abnormal testis morphology, Protruding to... |
ORPHA:96147 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia |
OMIM:613839 |
Opitz Gbbb Syndrome |
|
Smooth philtrum, Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Hypospadia... |
OMIM:300000 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Frontal bossing, Short stature, Abnormal heart valve m... |
ORPHA:1340 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Chromosome 5Q12 Deletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosu... |
OMIM:615668 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Comp... |
OMIM:264480 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Rhizomelia, Ventricular septal defect, Short stature, Craniosynostosis, Dolichoc... |
OMIM:614114 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Costello Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Redundant skin, Abnormal dental enamel ... |
ORPHA:3071 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl... |
OMIM:107320 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submuc... |
ORPHA:2250 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Narrow m... |
ORPHA:1780 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Brachycephaly, Renal cyst... |
ORPHA:261494 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft up... |
OMIM:612582 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
De Barsy Syndrome |
|
Decreased muscle mass, Brachycephaly, Prominent veins on trunk, High palate, Emphysema, Short sta... |
ORPHA:2962 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Short stature, Cryptorchidism,... |
OMIM:617452 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Vesicoureteral reflux, Cleft pa... |
OMIM:614749 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Severe short stature, Hypospadias, Precocio... |
ORPHA:2588 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft... |
ORPHA:563609 |
Kury-Isidor Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Brachycephaly, Growth del... |
OMIM:619762 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Optic nerve hypoplasia, Disproportionate short stature, Flexion contracture, Submucou... |
OMIM:222765 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Pallor, Poikilocytosis... |
OMIM:300908 |
Orofaciodigital Syndrome Xix |
|
Frontal bossing, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow mouth, Narrow ... |
OMIM:620107 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Asce... |
ORPHA:141127 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Polyhydramn... |
OMIM:300998 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Rieger anomaly, Severe short stature, Ventricular septal defect, Short ... |
OMIM:270450 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Cleft upper lip, Abnormality ... |
ORPHA:96167 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Death in infancy, Short stature, Macrodontia, Cleft upper lip, Venous insufficie... |
ORPHA:1106 |
Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial sept... |
OMIM:615279 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernumerary nipple, C... |
ORPHA:217346 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Downturned corners of mouth, Gastroesophageal reflux, Atrial sept... |
OMIM:620186 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Growth delay, Distal amyotrophy, High palate, Pallor, Increased v... |
OMIM:617675 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Pariet... |
OMIM:617450 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... |
OMIM:618021 |
Monosomy 18P |
|
Short stature, Lymphedema, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mout... |
ORPHA:1598 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Edema, Abnormally large globe, Polyhydramnios, Disproportionate short-trunk shor... |
OMIM:200610 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Pulmonary carcinoid tumor, Intrac... |
ORPHA:363618 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Facial hypotonia, Short stature, Dispr... |
ORPHA:85194 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Esophag... |
ORPHA:95430 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Short stature, Cryptorchidism, Scaphocephaly, Cleft palate... |
OMIM:617164 |
Jacobsen Syndrome |
|
Abnormality of the anus, Long philtrum, Death in infancy, Multicystic kidney dysplasia, Short sta... |
ORPHA:2308 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,... |
OMIM:614424 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent for... |
OMIM:617506 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemia, Pallor, Hyperinsulinem... |
ORPHA:324575 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Ventricular septal defect, Hypospadias, Postnatal growth retardation, Cryptorchi... |
ORPHA:494344 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior... |
OMIM:601357 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Op... |
OMIM:147800 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Dolichocephal... |
OMIM:121050 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Eleva... |
ORPHA:94080 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu... |
ORPHA:79474 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... |
ORPHA:167635 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurr... |
OMIM:602450 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Turricephaly, Polyhydramnios, Type 1 muscle fiber atrophy, ... |
OMIM:619036 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Ogden Syndrome |
|
Frontal bossing, Torticollis, Everted upper lip vermilion, Ventricular septal defect, Postnatal g... |
ORPHA:276432 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Frontal bossing, Ventricular septal defect, Short stature, Sagi... |
OMIM:609942 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Abnormal urinary color |
ORPHA:90037 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Flat occiput, Limb joint contracture, Ventricular septal defect, Short ... |
ORPHA:505237 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... |
ORPHA:284169 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Inc... |
OMIM:618504 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Thick lower ... |
OMIM:619103 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary ven... |
OMIM:617478 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Hypospadias, Erythroid hypoplasia, R... |
OMIM:612528 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Congenital diaphragmatic hernia, Anteriorly placed anus, Olig... |
OMIM:305600 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothy... |
OMIM:601005 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Sagittal craniosynostosis, Trigonocephaly, Hydrocephalus, Scaphocephaly, Brachycep... |
ORPHA:459061 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Frontal bossing, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidi... |
ORPHA:261250 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Trigonocephaly, Craniosynostosis, Cleft palate, Plagioc... |
OMIM:618265 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Short stature, Ventricular septal defect, Camptodactyly of finger, Congenital di... |
ORPHA:1488 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:620113 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Filippi Syndrome |
|
Frontal bossing, Severe short stature, Ventricular septal defect, Short stature, Supernumerary ni... |
ORPHA:3255 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... |
ORPHA:2876 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Atrial septal defect, Spin... |
OMIM:300373 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Edema, Leukocytosis, Dilated cardiomyopathy, Dehydration, Leukopenia, 3-Methylglutaric... |
ORPHA:20 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft p... |
ORPHA:251038 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri... |
OMIM:194380 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Ganglioneuromatosis, El... |
ORPHA:653 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Splenomegaly, Hydrocephalus, Chronic kidney disease, Or... |
OMIM:615630 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplas... |
ORPHA:264200 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis |
OMIM:619239 |
Noonan Syndrome 9 |
|
Hydroureter, Short stature, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulm... |
OMIM:616559 |
Trichohepatoenteric Syndrome 1 |
|
Frontal bossing, Villous atrophy, Ventricular septal defect, Short stature, Increased mean platel... |
OMIM:222470 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Agang... |
ORPHA:2473 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Frontal bossing, Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, ... |
ORPHA:2256 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Mor... |
OMIM:613309 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Bra... |
ORPHA:254346 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Intrauterine growth retardation, Bifid uvula, Abnormal penis... |
ORPHA:2461 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Fanconi Anemia |
|
Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, Sh... |
ORPHA:84 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo... |
OMIM:239300 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Short stature,... |
OMIM:145420 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola... |
OMIM:258900 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Abnormality of the philtrum, Polyhydramnios, Spina bifida, Flexion contr... |
ORPHA:2671 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... |
ORPHA:1507 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature, Cleft upper lip, Cleft palate, High palate |
OMIM:609654 |
Teebi-Shaltout Syndrome |
|
Turricephaly, Ureteral stenosis, Ventricular septal defect, Short stature, Prominent palatine rid... |
OMIM:272950 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Recurrent respiratory infections, Severe short stature, V... |
ORPHA:3047 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Nephropathy, Oligohy... |
OMIM:208085 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Short stature, Craniosynostosis, Bilateral cryptorchid... |
ORPHA:314575 |
Stevenson-Carey Syndrome |
|
Narrow mouth, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Gastroesophageal... |
OMIM:611961 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Rena... |
OMIM:229850 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Short stature, Polyhydramnios, Cryptorchidism, D... |
OMIM:610733 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsor... |
ORPHA:452 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Brachycephaly, Dextrotransposition of the great arterie... |
OMIM:619995 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Pulmonary artery atresia, Atrial septal defect, Patent f... |
OMIM:212093 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arterios... |
OMIM:616564 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Redundant skin, Hypoplasia of the abdominal wall musculature, High, narrow... |
OMIM:612289 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Abnormally large globe, Hydr... |
OMIM:603387 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... |
OMIM:220500 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Short stature, Maternal diabetes, Panhypopituita... |
ORPHA:280200 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Apert Syndrome |
|
Brachycephaly, Bifid uvula, Overriding aorta, Sagittal craniosynostosis, Esophageal atresia, Cryp... |
OMIM:101200 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Flexio... |
ORPHA:261537 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Thin upper lip vermilion, Hydroureter, Ventricular septal defect, Short stature,... |
OMIM:610759 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Alagille Syndrome |
|
Frontal bossing, Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Brachyceph... |
ORPHA:52 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Vesicoureteral reflux, Atrial septal def... |
OMIM:610443 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Polyhydramnios, Abnormality of the dentition, Open bite, Splenomegaly, Deep philtr... |
OMIM:115150 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery sten... |
ORPHA:85202 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Widely-spaced maxillary central incisors, Gastroesophageal reflux, Micropenis, Hypospadias, Diast... |
OMIM:301040 |
Gm1 Gangliosidosis |
|
Frontal bossing, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:354 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid... |
ORPHA:329224 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Enamel ... |
OMIM:619229 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Organic aciduria, Limb hypertonia |
ORPHA:99742 |
Cree Mental Retardation Syndrome |
|
Hypospadias, Cleft soft palate, Cryptorchidism, Brachycephaly, Webbed neck |
OMIM:606851 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, High palate, Vesicoureteral reflux, Atrial septal defect, Patent... |
ORPHA:2745 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent... |
OMIM:608149 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorch... |
OMIM:257300 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Renal cyst, Pulmonary hypopla... |
OMIM:615636 |
Grange Syndrome |
|
Ventricular septal defect |
ORPHA:79094 |
Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Flat occiput, Hypospadias, Ventricular septal def... |
ORPHA:912 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Sagittal craniosy... |
OMIM:615879 |
Baller-Gerold Syndrome |
|
Frontal bossing, Short stature, Malabsorption, Abnormality of the ureter, Brachycephaly, Cleft pa... |
ORPHA:1225 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Recurrent respiratory infections, Flat occiput, Ventricular septal ... |
OMIM:147791 |
Okamoto Syndrome |
|
Redundant neck skin, Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Pr... |
ORPHA:2729 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Flexio... |
ORPHA:261552 |
Zttk Syndrome |
|
Unilateral lung agenesis, Flexion contracture, Downturned corners of mouth, High palate, Short ph... |
OMIM:617140 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Precocious puberty, Cleft palate, Growth de... |
ORPHA:447980 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Short stature, Camptodactyly of finger, Cryptorchidism, Submucous cleft ha... |
OMIM:114300 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Recurrent respiratory infections, Natal tooth, Hypospadias, Protrud... |
OMIM:610253 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Rectal prolapse, High palate, Spina bifida occulta, Hypoparathyroidis... |
ORPHA:235 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, V... |
OMIM:274000 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Erythema, Brachyc... |
ORPHA:99812 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect, Narrow m... |
OMIM:245552 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Facial hypotonia, Short stature, Dental crowding, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Eosinophilia, Supernumerary ni... |
OMIM:308300 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Radio-Tartaglia Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Precocious... |
OMIM:619312 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Renal cyst, Stillbirth, Atrial septal defect |
OMIM:263630 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Frontal bossing, Scapular winging, Ventricular septal defect, Short stature, Patent ductus arteri... |
OMIM:618870 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Leukocytosis, F... |
OMIM:619321 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Pa... |
ORPHA:90033 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Flat occiput, Short stature, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ve... |
OMIM:617412 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, Neonatal death... |
OMIM:619167 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, Atrial septal defect, A... |
ORPHA:769 |
Tarp Syndrome |
|
Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Cleft palate, Tongue nodules, Glossop... |
OMIM:311900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Camptodactyly, A... |
OMIM:301039 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:352665 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Anteriorly placed anus, Short stature, Hypospadias,... |
OMIM:305450 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Short stature, Wide mouth, High palate, Transposition of the great arte... |
OMIM:617982 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Trigonocephaly, High, narrow pa... |
OMIM:158170 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Abnormality of the dentition, Precocious puberty, Thick lower lip ver... |
ORPHA:261652 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Epispadias, Conical incisor, Microdontia, Atrial septal defect, ... |
ORPHA:289 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Abnormality of the pulmonary artery |
ORPHA:1065 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Autoimmune t... |
ORPHA:1572 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... |
OMIM:617798 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofa... |
OMIM:309800 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Facial palsy, Supernumerary nipple, Cleft upper lip, Postnatal growth ... |
OMIM:113620 |
Lymphedema-Distichiasis Syndrome |
|
Diabetes mellitus, Proteinuria, Predominantly lower limb lymphedema, Cleft upper lip, Patent duct... |
ORPHA:33001 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anteriorly placed anus, Copper beaten skull, High palate, Vesicoureteral refl... |
OMIM:617063 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Wide mouth, High palate, Intrauterine gr... |
OMIM:613398 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Hypo... |
OMIM:309801 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Diastasis recti, Supernumerary nipple, Dental crowding, Postnatal grow... |
OMIM:257920 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ... |
ORPHA:2969 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Cleft pa... |
OMIM:616449 |
Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Brachycephaly, Renal cyst, ... |
OMIM:122470 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly, Brachycephaly, High palate, Long philt... |
OMIM:618798 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ... |
OMIM:619910 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... |
ORPHA:268261 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:613870 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Cholelithiasis, Pericardial effusion, Normochromic anemia, Intrauterin... |
OMIM:618775 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Bra... |
OMIM:245600 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Vesicoureteral reflux, Cleft palate, Atrial septal defe... |
OMIM:614261 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Patent du... |
OMIM:617061 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of mouth, Gastroesophageal ... |
OMIM:619950 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft uppe... |
OMIM:100300 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Polyhydramnios, Compl... |
OMIM:236680 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Pallor, Nephronophth... |
OMIM:616307 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Polyhydramnios,... |
OMIM:164280 |
Sweeney-Cox Syndrome |
|
Flat occiput, Polyhydramnios, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Velop... |
OMIM:617746 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... |
OMIM:613001 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, Flexion contracture, Scaling skin, Atri... |
OMIM:275210 |
Hajdu-Cheney Syndrome |
|
Downturned corners of mouth, Periodontitis, Long philtrum, Short stature, Hypospadias, Open bite,... |
ORPHA:955 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Vesicouretera... |
ORPHA:209905 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Polyhydramnios, Scaling skin, Atrial septal de... |
ORPHA:1662 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, H... |
OMIM:164210 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Absent gallbladder, Natal tooth, Hamartoma of tongue, Esophageal diverticulum, C... |
OMIM:617925 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B ly... |
OMIM:102700 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Prominent occiput, Cont... |
ORPHA:96123 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Carious teeth, Patent ductus arteriosus, Ve... |
OMIM:613680 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Short stature, Ventricular septal defect, Hypospadi... |
ORPHA:163979 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Supernumerary nipple, Submucous cleft hard palate, Prominent occiput, Unilatera... |
OMIM:619122 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Short stature, Trigonocephaly, Esophageal atresia, Deep philtrum, Clef... |
OMIM:610536 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Flat occiput, Hypospadias, Epispadias, Brachycephaly, E... |
ORPHA:2211 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Rhizomelia, Short stature, Knee flexion contracture |
ORPHA:166016 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Cryptorchidism, Submucou... |
ORPHA:178303 |
C Syndrome |
|
Ventricular septal defect, Short stature, Accessory oral frenulum, Cryptorchidism, Patent ductus ... |
OMIM:211750 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, High, narrow pa... |
OMIM:616368 |
Robinow Syndrome |
|
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi... |
ORPHA:97360 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism, ... |
OMIM:607932 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Dental cro... |
ORPHA:79329 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Facial hypotonia, Exaggerated cupid's bow, Oral-pharyn... |
ORPHA:2131 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Postnatal ... |
ORPHA:96191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Frontal bossing, Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crow... |
OMIM:309520 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu... |
OMIM:300855 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Thoracoabdominal Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arteriosus, Hydrocep... |
OMIM:313850 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... |
ORPHA:276621 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Holoprosencephaly, Parietal bossing, Median cleft palate,... |
OMIM:610828 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atria... |
OMIM:613610 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Cleft soft palate, Polyhydramnios, Patent ductus arteriosus, Aortic rupt... |
OMIM:614557 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Short stature, Exag... |
ORPHA:261236 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, ... |
ORPHA:2143 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Swollen lip, Neonatal death, Patent foramen ovale, Spina bifida, Cleft upper lip,... |
OMIM:256520 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Flexion contracture, Abnormal medullary pyramid morphology, Gastroesop... |
ORPHA:79243 |
Alg9-Cdg |
|
Villous atrophy, Abnormal lung lobation, Brachycephaly, Hydrops fetalis, Right ventricular dilata... |
ORPHA:79328 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... |
OMIM:619909 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... |
OMIM:608328 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Raine Syndrome |
|
Brachycephaly, High palate, Microdontia, Neonatal death, Death in infancy, Short stature, Gingiva... |
OMIM:259775 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, High, narr... |
ORPHA:3472 |
Cohen Syndrome |
|
Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormal... |
ORPHA:193 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Prominent occiput, Pulmonary hypoplasia, Dolichocephaly, Midface retru... |
OMIM:617895 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... |
ORPHA:29072 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Short stature, Cardiomeg... |
OMIM:614921 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Frontal bossing, Flat occiput, Ventricular septal defect, Dental crowding, Abnormality of upper l... |
ORPHA:251028 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis |
ORPHA:134 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... |
ORPHA:2753 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Selective tooth agenesis, Conical t... |
OMIM:106260 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Frontal bossing, Ventricular septal defect, Short stature, Craniosynostosis, Abnormality of the e... |
ORPHA:166035 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... |
ORPHA:1071 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short stature, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... |
OMIM:301030 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Brachycephaly, High palate, Parietal bossing, Spin... |
OMIM:234100 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Abnormal lung lobation, Brachycephaly, Renal cys... |
ORPHA:369837 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Gas... |
ORPHA:818 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, Long philtrum, Microphthalmia |
OMIM:615877 |
Branchioskeletogenital Syndrome |
|
Brachycephaly, Anteriorly placed anus, Downturned corners of mouth, Short philtrum, Premature los... |
ORPHA:1299 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrop... |
OMIM:613404 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperpla... |
ORPHA:263455 |
Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Mitral valve prolapse, Midface ... |
OMIM:108300 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Malabsorption, Hypothyro... |
ORPHA:83471 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Ventricular septal defect, Hypospadias, Adrenal hypoplasia, Protruding tongue, Redu... |
OMIM:214100 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Submucous cleft soft palate, Cryptorchidism, Abnormality ... |
ORPHA:168572 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Crypt... |
OMIM:613884 |
Faciocardiorenal Syndrome |
|
Narrow mouth, Cleft palate, Horseshoe kidney, Plagiocephaly, Hypodontia, Tricuspid valve prolapse... |
ORPHA:1973 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplastic anemia, Short stature, Hypospadias, Postnatal growth retardat... |
OMIM:223370 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retardation, Large p... |
ORPHA:254534 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Gastroe... |
OMIM:618268 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Short stature, Hypospadias, Cleft soft palate, Cryptorchidism, ... |
ORPHA:2282 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Thin upper lip vermilion, Branchial fistula, Ventricular septal... |
ORPHA:261330 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, High, narrow palate, Crypt... |
ORPHA:2789 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Trache... |
ORPHA:268249 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Aplasia/Hypoplasia of t... |
ORPHA:1425 |
Distal Duplication 5Q |
|
Hypospadias, Ventricular septal defect, Craniosynostosis, Dextrocardia, Short stature, Cryptorchi... |
ORPHA:96097 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea... |
OMIM:263520 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... |
ORPHA:91347 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Hepatosplenomegaly, Cherry ... |
OMIM:268800 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... |
ORPHA:3455 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,... |
ORPHA:247691 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossop... |
ORPHA:3201 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Gastro... |
ORPHA:2152 |
Renpenning Syndrome 1 |
|
Brachycephaly, High palate, Short philtrum, Death in childhood, Atrial septal defect, Short statu... |
OMIM:309500 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Proportionate short stature, Unilateral... |
OMIM:613457 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arter... |
OMIM:617516 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Gastrointestinal dysmotility, Downturned corners of mouth, Gastroesopha... |
ORPHA:500150 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Pulmonic stenosis, ... |
OMIM:619123 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Myopathy With Extrapyramidal Signs |
|
Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Leukocytosis, Growth delay, ... |
OMIM:615673 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Ventricular septal defect, Proportionate short stature, Broad skull, Patent ductus... |
OMIM:277600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Optic disc hypoplasia, Ventricular septal defect, Exa... |
OMIM:619306 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Unilateral alveolar cleft of m... |
ORPHA:2751 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Short stature, Hypospadias, Flexion contracture, Submucous cleft hard palate, Generalized limb mu... |
OMIM:618891 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Exaggerated cupid's bow, High... |
ORPHA:464738 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Intestinal malrotation, Diast... |
OMIM:244450 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Optic atrophy, Increased mean platelet volume |
ORPHA:487796 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... |
OMIM:610978 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Craniosynostosis, Carious teeth, High, na... |
ORPHA:33364 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Purpura, Proteinuria, Glomerulone... |
ORPHA:93126 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Intestinal malrotation, ... |
OMIM:222448 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Short stature, Bilateral cryptorchidism, Patent ductus arteriosus, Rec... |
OMIM:300472 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Ventricular septal defect, Facial palsy, Aganglionic megacolon, Optic disc hypopla... |
OMIM:607323 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... |
OMIM:618619 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Severe short stature, Cleft soft palate, Polyhydramnios, Disproportionate short-trunk short statu... |
ORPHA:93316 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Brachycephaly, Orofacial cleft, Hi... |
OMIM:607872 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Dental crowding, High, narrow palate, Increased axial length of the glob... |
ORPHA:558 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Optic nerve hypoplasia, Exaggerated startle response |
OMIM:617864 |
Toriello-Carey Syndrome |
|
Short stature, Aganglionic megacolon, Postnatal growth retardation, Cryptorchidism, Patent ductus... |
ORPHA:3338 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... |
ORPHA:99095 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Patent du... |
OMIM:616975 |
Sotos Syndrome |
|
Frontal bossing, Ventricular septal defect, High, narrow palate, Muscular ventricular septal defe... |
OMIM:117550 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol... |
OMIM:154500 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Facial palsy, Redundant skin, Abnor... |
ORPHA:2658 |
Distal 22Q11.2 Microduplication Syndrome |
|
Smooth philtrum, Frontal bossing, Branchial fistula, Ventricular septal defect, Camptodactyly of ... |
ORPHA:261337 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Short stature, Macrodontia, Protruding tongue, Postnatal growth retard... |
OMIM:212066 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Brachycephaly, High palate, Short philtr... |
ORPHA:96121 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Myhre Syndrome |
|
Short philtrum, Atrial septal defect, Short stature, Pericardial effusion, Cryptorchidism, Patent... |
OMIM:139210 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate,... |
OMIM:602535 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Proboscis, Adrenal hypoplasia, Alobar holoprosencephaly, Submucous c... |
OMIM:157170 |
Stuve-Wiedemann Syndrome 1 |
|
Frontal bossing, Death in infancy, Pursed lips, Short stature, Carious teeth, Elbow flexion contr... |
OMIM:601559 |
Distal Deletion 3P |
|
Short stature, Cryptorchidism, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin ver... |
ORPHA:1620 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Congenital diaphragmatic hern... |
OMIM:618454 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Limb-Mammary Syndrome |
|
Absent nipple, Psoriasiform dermatitis, Cleft hard palate, Cleft lip, Cleft palate, Bilateral bre... |
ORPHA:69085 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short statu... |
OMIM:300712 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Hydrocephalus, Peripheral pulmonary v... |
OMIM:273395 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature, Duodenal atresia |
ORPHA:3004 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Conical tooth, Brachycephaly, High palate, Short... |
OMIM:135900 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Dysphagia |
ORPHA:13 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, High, narrow pala... |
OMIM:180849 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor... |
ORPHA:980 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Proportionate short stature, Abnor... |
ORPHA:488618 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Hepa... |
ORPHA:1465 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, High,... |
ORPHA:373 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Alzahrani-Kuwahara Syndrome |
|
Frontal bossing, Ventricular septal defect, Short stature, Coronary sinus enlargement, Hypospadia... |
OMIM:619268 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Submucous cleft hard palate, Enuresis nocturna, Plagioceph... |
OMIM:619680 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Ventricular septal defect, Ab... |
ORPHA:1458 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Lymphedema, High, narrow palate, High palate, Atrial septal def... |
OMIM:163950 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Short stature, Craniosynostosis, E... |
OMIM:178110 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Foot jo... |
ORPHA:444072 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Meester-Loeys Syndrome |
|
Frontal bossing, Aortic dissection, Short stature, Dolichocephaly, Gingival overgrowth, Mitral va... |
OMIM:300989 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, Gastroesoph... |
OMIM:616268 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity, Eosinophilic infiltration of the es... |
OMIM:609192 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Short stature, Bifid uvula |
OMIM:601492 |
Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Brachycephaly, Vesicoureteral reflux, Micropenis, Patent for... |
ORPHA:96149 |
Whim Syndrome |
|
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... |
ORPHA:51636 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Brachycephaly, Knee flexion contracture, High pala... |
OMIM:614976 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Short stature, Pyloric s... |
ORPHA:3138 |
Kabuki Syndrome 1 |
|
Premature thelarche, High palate, Atrial septal defect, Micropenis, Recurrent aspiration pneumoni... |
OMIM:147920 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Brachycephaly, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepatos... |
ORPHA:2072 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga... |
ORPHA:466791 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Trigonocephaly, Short stature, Cryptorchidism... |
ORPHA:251014 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Atrial septa... |
OMIM:312870 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Abnormal lung lobation, ... |
ORPHA:508488 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Gastroesophage... |
OMIM:270400 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, High palate |
ORPHA:52055 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledoch... |
OMIM:619480 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... |
OMIM:606232 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Holoprosence... |
ORPHA:672 |
Campomelic Dysplasia |
|
Irregular dentition, Polyhydramnios, High palate, Neonatal short-limb short stature, Hypospadias,... |
OMIM:114290 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint ... |
OMIM:113000 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Postnatal growth reta... |
OMIM:616145 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Short stature, Hypospadias, Pulmonary arter... |
OMIM:235730 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Diabetes mellitus, Short stature, Abnormal dental enamel morphology, Cle... |
OMIM:601701 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Arthro... |
OMIM:614961 |
Larsen Syndrome |
|
Frontal bossing, Ventricular septal defect, Short stature, Cleft upper lip, Cryptorchidism, Cleft... |
OMIM:150250 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... |
ORPHA:2519 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Congenital... |
OMIM:301044 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Optic disc hypoplasia, Proportionate... |
ORPHA:79345 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Pol... |
ORPHA:464311 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Short philtrum, Smooth p... |
ORPHA:293725 |
Cdags Syndrome |
|
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina... |
OMIM:603116 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contractu... |
ORPHA:96334 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Ventricular septal defect, Hypospadias, Palpebral edema, Splenomegaly, Cryptorc... |
OMIM:614866 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Polyhydram... |
OMIM:620025 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Cryptorchidism, Submucous cleft hard palate, Birth length less than 3rd percentile... |
OMIM:613805 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Precocious puberty, Scaphocephaly, Oxycephaly, Submucous cleft hard palate, Card... |
OMIM:618971 |
Osteopetrosis With Renal Tubular Acidosis |
|
Brachycephaly, Leukopenia, High palate, Short stature, Persistence of primary teeth, Secondary hy... |
ORPHA:2785 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Renal cyst, Knee flexion contracture, Gastroesophageal reflux, Short philtru... |
OMIM:210710 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... |
OMIM:243800 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Renal corticomedul... |
OMIM:219730 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Recurrent upper respiratory tract infections, Severe postnatal growth ... |
ORPHA:3078 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... |
ORPHA:2369 |
Schilbach-Rott Syndrome |
|
Short stature, Hypospadias, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Orofacial cleft, Downturned corners of mouth, Gastroesophageal reflux, Sho... |
OMIM:194190 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Cryptorchidism, Cleft lip, Dysplastic tricuspid valve, Horseshoe kidne... |
ORPHA:1724 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Short stature, Polyhydramnios, Broad skull,... |
OMIM:600373 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Supernumerary ... |
OMIM:619194 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dystonia, Che... |
ORPHA:845 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Brachycephaly, High palate, Widely spaced teeth, Microdontia, Atrial septa... |
OMIM:612474 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular se... |
ORPHA:508498 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, Craniosynostosis... |
ORPHA:2554 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Brachycephaly, Micropenis |
OMIM:620073 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract |
OMIM:620327 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Unilateral renal agenesis, Precocious puberty, Ebstein anomaly of the tri... |
OMIM:608980 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cryptorchidism, Patent ductu... |
OMIM:620024 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Short stature, Hypospadias, Unilateral re... |
ORPHA:464306 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal diabetes, Rectal fistula... |
ORPHA:49 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Decreased circulating antibody level, Short philtrum, Tr... |
ORPHA:96129 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Hypospadias, Short stature, Ventricular septal defect, Congenital diaph... |
OMIM:618846 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sex... |
OMIM:194050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Muscular dystr... |
OMIM:253280 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal s... |
OMIM:619534 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Abnorma... |
ORPHA:369929 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Po... |
OMIM:192350 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature |
OMIM:609166 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Ventricular septal defect... |
OMIM:613458 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Baller-Gerold Syndrome |
|
Brachycephaly, Anteriorly placed anus, High palate, Spina bifida occulta, Bifid uvula, Short stat... |
OMIM:218600 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Acrofacial Dysostosis 1, Nager Type |
|
Short stature, Ventricular septal defect, Unilateral renal agenesis, Congenital diaphragmatic her... |
OMIM:154400 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Polyhydramnios, Dolichocephaly,... |
ORPHA:459070 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Dysphagia, Gastr... |
ORPHA:506 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Brachycephaly, Knee flexion contracture, High palate, Atrial septal defect, Wrist... |
OMIM:268300 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Dystonia |
OMIM:272750 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Ventricular septal defect, Short stature, Craniosynostosis, Renal cyst, Horsesho... |
OMIM:250410 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
Coffin-Siris Syndrome 12 |
|
Frontal bossing, Short stature, Facial palsy, Hypospadias, Celiac disease, Cryptorchidism, Veloph... |
OMIM:619325 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Vesicoureteral reflux, Atrial se... |
ORPHA:353281 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Flexion contracture, Erythema, Growth delay, High palate, Gastroesopha... |
OMIM:614653 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pneumonia, Pericardial effusion, Dila... |
ORPHA:26793 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Ventricular septal defect, Trigonocephaly, Hamartoma of ton... |
OMIM:615948 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Brachycephal... |
ORPHA:1519 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Pedal edema,... |
OMIM:617107 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... |
OMIM:612292 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Mitral valve calcification, Short stature, Elevated hemoglobin A1c, Proteinuria,... |
OMIM:619127 |
Costello Syndrome |
|
Renal insufficiency, Redundant neck skin, Ventricular septal defect, Short stature, Rhabdomyosarc... |
OMIM:218040 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia, Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Abnormality of dental color, Short stature, Precocious puberty, Cranial asymme... |
OMIM:163200 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Flexion contracture, Increased axi... |
OMIM:154700 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Pallor |
ORPHA:348 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly, Lymphadenopa... |
OMIM:619418 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Short stature, Intestinal malrotation, Cryptorchidism, Pa... |
OMIM:102500 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature, Dysphagia |
OMIM:618325 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen... |
ORPHA:500095 |
W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Diastasi... |
ORPHA:488632 |
Hyperlysinemia |
|
Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery h... |
ORPHA:2203 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... |
OMIM:615474 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Hypospadias, Decreased respon... |
ORPHA:444077 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... |
OMIM:619575 |
X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Brachycephaly, Cleft palate, Downturned ... |
ORPHA:85276 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Anteriorly pl... |
OMIM:261540 |
Childhood Absence Epilepsy |
|
Pallor, Urinary incontinence |
ORPHA:64280 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
X Small Rings |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Growth delay, Aortic ... |
ORPHA:96201 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Median cleft lip, Ventricular septal defect, Camptodactyly of finger, Abnorma... |
ORPHA:2710 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Redundant skin, Bronchiectasis, Cutis laxa, Long philtrum, Emphysema, ... |
OMIM:123700 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Congenital diaphragmatic hernia, Brachycephaly, Downturned corners of mouth,... |
ORPHA:199 |
Proteus Syndrome |
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Decreased muscle mass, Lymphedema, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Ab... |
ORPHA:744 |
Fanconi Anemia, Complementation Group N |
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Postnatal growth retardation, Ventricular septal defect, Aplastic anemia |
OMIM:610832 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Orofaciodigital Syndrome Type 10 |
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Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Keutel Syndrome |
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Ventricular septal defect, Recurrent bronchitis, Miscarriage, Deep philtrum, Pulmonary artery hyp... |
OMIM:245150 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios, Short stature, Pulmonary hypoplasia |
OMIM:615503 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Dermal translucency, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Cutis laxa,... |
OMIM:614437 |
Cardiac Valvular Dysplasia 2 |
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Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Ves... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Ves... |
ORPHA:353277 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Laubry-Pezzi Syndrome |
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Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Sick Sinus Syndrome 2 |
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Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Hand-Foot-Genital Syndrome |
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Ventricular septal defect, Hypospadias, Miscarriage, Abnormality of the urethra, Vesicoureteral r... |
ORPHA:2438 |
Hermansky-Pudlak Syndrome 2 |
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Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Gm1 Gangliosidosis Type 1 |
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Cherry red spot of the macula, Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Short stature, Ventricular septal defect, Polyhydramnios, Cryptorchidism, High palate, Pulmonic s... |
OMIM:607721 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Scapular winging, Short stature, Short uvula, Submucous cleft hard palat... |
OMIM:619539 |
Eisenmenger Syndrome |
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Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic ... |
ORPHA:97214 |
Orofaciodigital Syndrome Type 14 |
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Ventricular septal defect, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism... |
ORPHA:434179 |
Bifid Uvula |
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Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Goodpasture Syndrome |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H... |
OMIM:233450 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Alagille Syndrome 1 |
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Frontal bossing, Ventricular septal defect, Multiple small medullary renal cysts, Vesicoureteral ... |
OMIM:118450 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Cerebellofaciodental Syndrome |
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Ventricular septal defect, Short stature, Cryptorchidism, Dental malocclusion, Mitral valve prola... |
OMIM:616202 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureter... |
ORPHA:438213 |
Goldberg-Shprintzen Syndrome |
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Aganglionic megacolon, Ventricular septal defect, Oligodontia, Short philtrum, Thick vermilion bo... |
OMIM:609460 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-positive help... |
ORPHA:221139 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Intestinal malrotatio... |
OMIM:616682 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Sca... |
OMIM:620330 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Omodysplasia 1 |
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Frontal bossing, Rhizomelia, Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis... |
OMIM:258315 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... |
ORPHA:513456 |
Saethre-Chotzen Syndrome |
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Short stature, Parietal foramina, Oxycephaly, Brachycephaly, Narrow palate, Abnormal heart morpho... |
OMIM:101400 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... |
OMIM:187300 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bicuspid aortic valve, High, narrow palate, High palate, Short philtrum, Micropenis, Hypospadias,... |
OMIM:619475 |
Long Qt Syndrome 15 |
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Left ventricular noncompaction |
OMIM:616249 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Micro... |
OMIM:619525 |
Yunis-Varon Syndrome |
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Flat occiput, Redundant neck skin, Polyhydramnios, Hydrops fetalis, Abnormal calvaria morphology,... |
OMIM:216340 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Craniosynostosis And Dental Anomalies |
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Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Short stature, Dental cro... |
OMIM:614188 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Short stature, Ventricular septal defect, Maternal diabetes, Cryptorchi... |
OMIM:134780 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhyd... |
OMIM:601803 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Muscular ventricular s... |
OMIM:157800 |
Townes-Brocks Syndrome 1 |
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Gastroesophageal reflux, Holoprosencephaly, Vesicoureteral reflux, Atrial septal defect, Hypothyr... |
OMIM:107480 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Peripher... |
ORPHA:99106 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Pedal edema, Gastroesophageal ... |
ORPHA:821 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Clef... |
OMIM:271640 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Hydroureter, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Pro... |
ORPHA:2636 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal... |
OMIM:619522 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... |
ORPHA:363700 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Camptoda... |
OMIM:609128 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Rhizomelia, Short stature, Hypoplastic pulmonary veins, Absent pulmonary artery... |
OMIM:610682 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Ventricu... |
OMIM:606170 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Ventricular septal defect, Short stature, Thick lower lip vermilion, D... |
OMIM:619727 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Mitral stenosis, Ventricular septal defect, T... |
OMIM:143095 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... |
OMIM:600376 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Facial wrinkling, Narro... |
OMIM:606721 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Umbilical hernia, Micro... |
ORPHA:1934 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... |
ORPHA:391665 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... |
OMIM:619381 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Ventricular septal defect, Short stature |
OMIM:259770 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |