Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Peripheral axonal neuropathy, Neonatal respiratory distress, Spinal muscular a... |
OMIM:616866 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Macrotia, Wid... |
ORPHA:3304 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, A... |
ORPHA:2257 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:280679 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thromb... |
ORPHA:520 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Premature graying of hair, Elevated circul... |
OMIM:300845 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Choanal stenosis, Conductive hearing impairment... |
OMIM:620186 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Cutis marmorata, Livedo reticularis, Li... |
OMIM:182410 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Thromboc... |
OMIM:617397 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ventilatory defec... |
OMIM:620296 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoi... |
ORPHA:36382 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... |
OMIM:202650 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Monosomy 18Q |
|
Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, C... |
ORPHA:1600 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of... |
ORPHA:3047 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Posteriorly ro... |
OMIM:179613 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middle phalanx of 3rd finger... |
OMIM:308050 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Wide nose, Overriding aorta, Bicuspid aor... |
ORPHA:477817 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... |
OMIM:619909 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
Glossopharyngeal Neuralgia |
|
Ear pain, Cranial nerve compression, Schwannoma, Jaw claudication, Abnormal glossopharyngeal nerv... |
ORPHA:221098 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Glue ear, Cutis marmorata, Broad nasal tip, Secundum atrial sep... |
OMIM:619758 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Anteverted nares, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Ja... |
OMIM:251290 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Prolidase Deficiency |
|
Chronic lung disease, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia... |
OMIM:170100 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Anteverted nares, Posteriorly rotated ears, Short toe, Spina bifida occulta, An... |
OMIM:617877 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, Camptodactyly o... |
OMIM:619951 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... |
ORPHA:185 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Micrognathia, Cardiomegaly... |
OMIM:608013 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Hearing impairment, Long nose, Carious teeth, Muscular ventricular septal de... |
ORPHA:363444 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Respiratory tract infection, Hydrocephalus, Optic atrophy, Abnormal heart morpholog... |
ORPHA:93400 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Choanal stenosis, Thoracic kyphosis, Aspirat... |
OMIM:602535 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Micrognathia, Cardi... |
OMIM:617022 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
OMIM:220210 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, ... |
ORPHA:449285 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegal... |
OMIM:300855 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... |
ORPHA:906 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Apnea, Decreased response to growth hormone stimulation test, Micrognathia... |
OMIM:619503 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Diabetes mellitus, Prominent nose, Secundum atrial septal defect, Micrognathia, Recurrent lower r... |
OMIM:620194 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Skeletal muscle atrophy, Micrognathia, Secundum atrial septal defect... |
OMIM:608779 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Cough, Ecchymosis, Abnormal bleeding, Pericardial ... |
ORPHA:464329 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... |
ORPHA:1959 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, ... |
OMIM:603909 |
Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal r... |
ORPHA:244 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, C... |
OMIM:612541 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, A... |
ORPHA:860 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Muscular ventricular septal defect, Wide nasal bridge, Respiratory failu... |
OMIM:618804 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Choanal atresi... |
OMIM:158170 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Atrial septal defect, Pulmonary artery atresia, Patent fo... |
OMIM:618316 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Cyanosis, Ventricular septal defect, Depressed nasal bridge, Abn... |
ORPHA:3426 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Prominent nasal bridg... |
ORPHA:1110 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Taurodontia, Umbilic... |
OMIM:618205 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture... |
OMIM:230000 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger |
OMIM:300049 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus ar... |
OMIM:617053 |
Sotos Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:117550 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure... |
ORPHA:94080 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Scolios... |
OMIM:619910 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Pallor, Neutropenia, Abnormal bleeding, Leukocytosis, Oliguria, B... |
ORPHA:90051 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundu... |
OMIM:612562 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A... |
ORPHA:331 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Adrenal hypoplasi... |
ORPHA:2166 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b... |
OMIM:620071 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominent nose, Secundum atrial se... |
OMIM:618665 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the thymus, Conductive hearing impairment,... |
ORPHA:861 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Coarcta... |
OMIM:614300 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Thrombocytopenia, Dyspnea, Hematuria, Anemia, Prolonged QTc i... |
ORPHA:231111 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... |
OMIM:619170 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... |
OMIM:300580 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial sept... |
OMIM:249420 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Cardiorespiratory ... |
ORPHA:99828 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricula... |
OMIM:620070 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... |
ORPHA:2260 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... |
OMIM:619534 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Cutis marmorata, Mediastinal lymph... |
ORPHA:91138 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Hypospadias, Recurrent bronchitis, Poor wound healing, Cryptorchidism, Asthma, Dry ... |
OMIM:620331 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chroni... |
OMIM:613496 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Aica-Ribosuria Due To Atic Deficiency |
|
Prominent metopic ridge, Anteverted nares, Prominent nasal bridge, Secundum atrial septal defect,... |
OMIM:608688 |
Alg12-Cdg |
|
Redundant skin, Micrognathia, Abnormal peripheral nervous system morphology, Patent foramen ovale... |
ORPHA:79324 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... |
OMIM:612840 |
Boutonneuse Fever |
|
Renal insufficiency, Thrombocytopenia, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leu... |
ORPHA:83313 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Abnormal pinna morphology, Prominent nasal bridge, Supernumerary nipple,... |
OMIM:618109 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... |
OMIM:202400 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Anteverted ears, Bila... |
OMIM:616268 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ... |
ORPHA:567 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Depressed nasal ridge, Hemivertebrae, Gonadotropin deficiency, Abnormal lung ... |
ORPHA:672 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... |
OMIM:614868 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Complement Component 4A Deficiency |
|
Cutaneous photosensitivity, Vasculitis, Glomerulonephritis, Purpura |
OMIM:614380 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus arteriosu... |
OMIM:608104 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Abnormal optic di... |
ORPHA:508498 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Prolonged bleeding time, Abnormal neutrophil count, Splenomegal... |
ORPHA:3226 |
Meningococcal Meningitis |
|
Shock, Papilledema, Neonatal respiratory distress, Hearing impairment, Stroke, Hypotension, Petec... |
ORPHA:33475 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypothyroidi... |
ORPHA:90065 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... |
ORPHA:136 |
Aicardi-Goutieres Syndrome 1 |
|
Diabetes insipidus, Thrombocytopenia, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Prolong... |
OMIM:225750 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Skeletal muscle atrophy, Respiratory... |
OMIM:620278 |
Dural Sinus Malformation |
|
Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebe... |
ORPHA:97339 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Cutis marmorata, Micrognathia, Secundum atrial septal defect, Erythroid hyp... |
OMIM:620072 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Acrocyanosis, Abnormal per... |
ORPHA:183 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respirat... |
OMIM:618886 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:225250 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Overfolded... |
ORPHA:79113 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Micrognath... |
ORPHA:1388 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Ventricular septal defect, Optic nerve hypoplasia, Craniosynostosis, Posteri... |
OMIM:301056 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, ... |
ORPHA:371428 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Arthropathy, Hip contracture... |
ORPHA:169805 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Scoliosis, Hypertrophic cardiomyopathy, Sensory a... |
OMIM:619121 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Asplenia, De... |
OMIM:306955 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... |
OMIM:214800 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Prominent nose, Camptodactyly o... |
OMIM:300280 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal def... |
ORPHA:79345 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Petechiae |
OMIM:619463 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Conductive hearing impairment, Spi... |
OMIM:201000 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of ... |
OMIM:608149 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Ethylmalonic aciduria, Acrocyanosis, Petechiae |
OMIM:602473 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Knee di... |
ORPHA:536545 |
Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... |
OMIM:613235 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuria, Cough, Anemia... |
ORPHA:375 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... |
OMIM:609821 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Depressed nasal bridge, Secundum atrial septal defect, Prominent antihel... |
OMIM:615802 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Choanal stenosis, Chronic otitis media, Synostosis... |
OMIM:101200 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal at... |
ORPHA:49827 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect, Low-set ears |
OMIM:620062 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Ecchymosis, Bruising su... |
OMIM:614201 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Right aortic a... |
OMIM:617616 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Vertebrobasilar dolichoectasia, Wide nasal bridge... |
ORPHA:521445 |
Simple Cryoglobulinemia |
|
Myocardial infarction, Abnormal lung morphology, Acral ulceration, Nephritis, Membranoproliferati... |
ORPHA:91139 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Bilateral Polymicrogyria |
|
Micrognathia, Sensorineural hearing impairment, Central hypothyroidism, Abnormality of masticator... |
ORPHA:268940 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... |
OMIM:153670 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Thoracic scoliosis, Short humerus, Ventricular septal defect, Aplasia of ... |
OMIM:142900 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Facial palsy, Hearing impairment, Thrombocytopenia, Leukocytosis, Vertig... |
ORPHA:297 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Abnormal renal physiology, Hem... |
ORPHA:540 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse |
OMIM:225310 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... |
ORPHA:169802 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphr... |
ORPHA:1120 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Micrognathia, Cryptorchidism, Jaundice, Optic nerve dysplasia, Abnormal heart morphology, ... |
OMIM:214110 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Elevated urine pyrophosphate, Death in infancy, Apnea, Hypercal... |
OMIM:241500 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atrophy, Hip dislocatio... |
OMIM:618651 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Redundant skin, Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Hypoplasia of th... |
OMIM:613177 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Decreased circulating T4 con... |
ORPHA:90674 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Sneddon Syndrome |
|
Cutis marmorata, Arterial stenosis, Intracranial hemorrhage, Hypertension, Nephropathy, Vascular ... |
ORPHA:820 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Respira... |
ORPHA:1166 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nos... |
OMIM:180849 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Abnormal pinna morpholo... |
OMIM:609069 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Fanconi Anemia, Complementation Group Q |
|
Low-set ears, Bone marrow hypocellularity, Primum atrial septal defect, Absent thumb |
OMIM:615272 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor... |
ORPHA:276621 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Dyspnea, Depresse... |
ORPHA:1832 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Giant Cell Arteritis |
|
Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Co... |
ORPHA:397 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... |
OMIM:610978 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Posteriorl... |
OMIM:613870 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding |
ORPHA:98880 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Prominent nose, Flexion contracture, Knee flexion contracture, Death in... |
OMIM:210710 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Splenic ruptu... |
ORPHA:98878 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Okamoto Syndrome |
|
Prominent metopic ridge, Redundant neck skin, Ventricular septal defect, Anteverted nares, Depres... |
ORPHA:2729 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Cutis marmorata, Epistaxis, ... |
ORPHA:33226 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Thickened helices, Hypoplasia of the maxi... |
ORPHA:261295 |
Aspergillosis |
|
Sinusitis, Pneumonia, Eosinophilia, Cough, Hypersensitivity pneumonitis, Dyspnea, Chronic pulmona... |
ORPHA:1163 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... |
ORPHA:66634 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363958 |
Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Crackles, Excessive bleeding after a venipuncture, Myocarditis, Leuk... |
ORPHA:319213 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Failure to thrive, Ethylmalonic aciduria, Petechiae |
ORPHA:51188 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... |
ORPHA:465 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated ears, Hydro... |
OMIM:614424 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Erythrocytosis, Familial, 1 |
|
Plethora, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Vertigo, Increased hemoglobin... |
OMIM:133100 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Neonatal death, Atr... |
OMIM:601186 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Cervical kyphosis, Micrognathia, Micromelia, Ost... |
ORPHA:666 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, Hemophagocytosi... |
ORPHA:79477 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Facial erythema, Hypoxemi... |
ORPHA:284227 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic frontal sinuses, Anterio... |
OMIM:136760 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Congenital diaph... |
OMIM:614437 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia, Respiratory insufficiency, Scoliosis, Arthrogryposis mul... |
OMIM:615731 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, ... |
ORPHA:158029 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, U... |
ORPHA:85202 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Myocarditis... |
ORPHA:809 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva... |
ORPHA:79 |
Tarp Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypoplasia of the radius, Optic atrophy... |
OMIM:311900 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Hypothyroidism, Patent ductus arteriosus, ... |
ORPHA:293939 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Pancytopenia, Telangiectasia of the skin, Abnormal capillary morpholog... |
ORPHA:542643 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Restrictiv... |
OMIM:203300 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Congenital diaphragmatic he... |
OMIM:300887 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Vitreous hemorrhage |
ORPHA:90050 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial sept... |
ORPHA:7 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Crypto... |
OMIM:615524 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Anteverted nares, Depressed nasal b... |
OMIM:301040 |
Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Micrognathi... |
ORPHA:1918 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Prominent nose, Protruding ear, Atria... |
OMIM:612474 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Poor wound healing, Hyperextensibility of the knee, Osteoarthritis, Fragile sk... |
OMIM:130000 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Nephropathy, Prolonged bleeding time, Absent mic... |
OMIM:301000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Cardiomegaly, B... |
OMIM:608836 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, ... |
OMIM:616145 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Broad nasal tip |
OMIM:618354 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Cough, Pericardial effusion, Vasculitis... |
ORPHA:781 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Conductive hearing impairment, Atrial septal defect, Patent fora... |
OMIM:157800 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Scoliosis, Micrognathia |
OMIM:608227 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Prominent no... |
OMIM:301022 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Respiratory distress, Depressed nasal bridge, Ankle flexion contracture, Micrognathia... |
OMIM:608799 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin ... |
ORPHA:2326 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... |
OMIM:277450 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Overfolded helix, Transposition ... |
ORPHA:1913 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc coloboma, Choanal s... |
OMIM:241310 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Micromelia, Atrial septal defect, Patent foramen ovale, Microretrognathia, Sca... |
OMIM:618870 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Abnormal cerebral vas... |
ORPHA:904 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Micrognathia, Conductive hearing impairment, Verteb... |
OMIM:130720 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Opt... |
OMIM:618164 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... |
OMIM:300400 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Wide ... |
OMIM:619149 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Renal insufficiency, Tachycardia, Sinusitis, Pneumonia, Glomerulonep... |
ORPHA:36234 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... |
OMIM:612561 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... |
OMIM:616733 |
Atelis Syndrome 1 |
|
Glue ear, Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Bronchiecta... |
OMIM:620184 |
Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Promin... |
OMIM:620370 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Congenital hip dislocation, Abnormal pinna morphology, Mu... |
OMIM:618291 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... |
ORPHA:2041 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Neonatal respiratory distress, Spinal musc... |
OMIM:616867 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Ante... |
ORPHA:536467 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C... |
OMIM:600001 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... |
OMIM:249270 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Depressed nasal bridge, Micrognathi... |
ORPHA:261120 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor... |
ORPHA:29072 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Anteverted nares, Micrognathia, Kyphosis, Cryptorchidism, Wide nasal bridge, Abnormal heart morph... |
ORPHA:352490 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Optic atrophy, Myopathy |
ORPHA:26792 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Rhizo... |
ORPHA:1842 |
Atelis Syndrome 2 |
|
Micrognathia, Prominent nose, Kyphosis, Patent ductus arteriosus, Bulbous nose, Elevated circulat... |
OMIM:620185 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, Purpura |
OMIM:161950 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Cutis marmorata, Congenital diaphragmatic her... |
OMIM:617602 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614009 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Muscular ventricular septal defect, Spina bifida occulta, Fused cervi... |
OMIM:619227 |
Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein... |
OMIM:263400 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:612336 |
Neurofibromatosis-Noonan Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Secundum atrial septal defect, Cryptorchidism, ... |
OMIM:601321 |
Cutaneous Small Vessel Vasculitis |
|
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura |
ORPHA:889 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Short thumb, Patent duc... |
ORPHA:391641 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon... |
OMIM:615688 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, De... |
OMIM:619383 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Intraventricular hemorrhage, Hyd... |
OMIM:613603 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Down Syndrome |
|
Redundant neck skin, Short palm, Conductive hearing impairment, Atrial septal defect, Atrioventri... |
OMIM:190685 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Gener... |
OMIM:264090 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Pos... |
OMIM:612946 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Optic atroph... |
OMIM:614261 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ventricular septal defect, Prominent nasal bridge, Crypto... |
ORPHA:401935 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... |
ORPHA:79126 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Wide nasal bridge, Low-set ears, Atrial septa... |
ORPHA:89844 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc... |
ORPHA:743 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Hemivertebrae, Contracture of the proximal... |
OMIM:618223 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Low-set ears, Scol... |
OMIM:619717 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... |
OMIM:619189 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Yuan-Harel-Lupski Syndrome |
|
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity,... |
OMIM:616652 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Hearing impa... |
ORPHA:163956 |
Emanuel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ... |
OMIM:609029 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Bulbous nose, Patent ductus arteriosus, Low-set ears, Pulmonary seques... |
OMIM:618330 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Bacterial endocarditis, Ecchymosis, Papilledema, Poor wound healing, S... |
ORPHA:2072 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Cho... |
OMIM:601808 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Alobar ho... |
OMIM:301043 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Apnea, Micro... |
OMIM:614669 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Underde... |
ORPHA:163979 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Redundant neck skin, ... |
OMIM:618652 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Scoliosis, Advanced erupti... |
OMIM:614753 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Microtia, Symphalangism of t... |
ORPHA:1439 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Cough, Abnormality of the hypothalamus-pituitary axis, Ureteral stenos... |
ORPHA:900 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Abnor... |
ORPHA:264450 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Death in infancy, Pancytopenia, Depressed nasal bridge, Anteve... |
ORPHA:85212 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, Cerebellar hemo... |
OMIM:606054 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... |
ORPHA:2409 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Purpura Simplex |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura |
OMIM:179000 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Senso... |
ORPHA:2549 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Low-set... |
OMIM:615502 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Hydro... |
ORPHA:1926 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Wide anterior fontanel, Patent d... |
OMIM:606003 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Choanal stenosis, Uplifted earlobe |
OMIM:620183 |
Transaldolase Deficiency |
|
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular hyper... |
ORPHA:101028 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... |
ORPHA:745 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Cough, Li... |
ORPHA:86812 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... |
ORPHA:324636 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An... |
ORPHA:2330 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular... |
ORPHA:420741 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Pituitary adenoma, Nephrolithiasis, Obesity, Increased circulating ACTH level... |
OMIM:219090 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Redundant skin, Micromelia, Abnormal sacroiliac joint morphology, Patent ... |
ORPHA:2655 |
Noonan Syndrome 11 |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Palmoplantar cutis laxa, Bilatera... |
OMIM:618499 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Wide nasal bridge, Short foot, Atria... |
ORPHA:228399 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Thrombocytopenia, Gi... |
ORPHA:238459 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Micrognathi... |
OMIM:619472 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Bronchitis, Cardiomegal... |
OMIM:601005 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Digeorge Syndrome |
|
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... |
OMIM:188400 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Anteverted nares, Depre... |
OMIM:217980 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... |
ORPHA:404443 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... |
OMIM:608978 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat... |
ORPHA:2306 |
Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ... |
OMIM:611376 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... |
OMIM:618300 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... |
ORPHA:776 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Redundant skin, Micromelia, Kyphosis, Patent ductus arteri... |
ORPHA:93274 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Flexion contracture, Leukopenia, Neutropenia, Death in childhood, Atrial se... |
OMIM:617303 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Prominent nose, Cryptorchidism, Patent ductus arteriosus... |
OMIM:617516 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Small for gestational age, Bicuspid aortic valve, Ventricular ... |
ORPHA:84064 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Emanuel Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Multiple joint contractures, Congenital diaphrag... |
ORPHA:96170 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prominent ... |
ORPHA:500159 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Normochr... |
OMIM:614857 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Dysp... |
ORPHA:93126 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Micrognathia, Knee flexion contracture, Atrial septal defect, Wrist flexio... |
OMIM:121050 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Vertigo, Intracranial hemorrhage, Pseudopapillede... |
ORPHA:140989 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Rhinorrhea, Situs inversus totalis, Goiter, Wheezing, Bronchiectasis, Right aortic ... |
OMIM:617577 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Anterior creases of ea... |
ORPHA:1727 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Prominent nose, Patent ductus ... |
OMIM:615668 |
Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupp... |
ORPHA:314588 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Ventricular septal defect, Posteriorly rotate... |
ORPHA:2789 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Low-set ear... |
ORPHA:1919 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Sensorineural hearing impa... |
OMIM:616430 |
Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, Abnormal lung lobation, Abnor... |
ORPHA:2516 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... |
ORPHA:210122 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Purpura, Aplastic anemia, Sens... |
OMIM:605432 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Pulmona... |
ORPHA:363618 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Death in infancy, Pancytopenia, Ventricular septal defect, Splenomegaly, Paten... |
OMIM:614576 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Protruding ear, Atrial septal defect, Ecchymosis, Microretrognathia, Tricuspid... |
OMIM:601776 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet, Microretrog... |
OMIM:278250 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, P... |
ORPHA:3260 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Myocardial infarction, Prematurely aged appearance, Pulmona... |
ORPHA:3342 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Phaver Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated e... |
ORPHA:2876 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Depressed nasal bridge, Craniosynostosis, Microg... |
OMIM:614114 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Thrombocytopenia, Splenomegaly, Optic atrophy, Cardiomyopathy, Stroke, Neut... |
ORPHA:79312 |
Marburg Hemorrhagic Fever |
|
Nonproductive cough, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bl... |
ORPHA:99826 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Depressed nasal bridge, Micrognathia, Patent ... |
OMIM:618142 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... |
ORPHA:1596 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Anteverted nares, Micrognathia, Wide nasal bridge, Abnormal heart morp... |
ORPHA:2209 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Promine... |
ORPHA:251061 |
Brucellosis |
|
Bronchitis, Leukopenia, Leukocytosis, Lymphadenopathy, Anemia, Miscarriage, Pneumonia, Hypersplen... |
ORPHA:1304 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Peripheral axonal neuropathy, Sensorineural h... |
ORPHA:2596 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... |
OMIM:614399 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of the ulna, Mi... |
ORPHA:3186 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Myocardial infarction, Micrognathia, Osteoarthritis, Intracr... |
ORPHA:740 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi... |
ORPHA:91130 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, S... |
OMIM:145420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Macroorchidism, Ventricular septal defect, Prominent nasal bridge, Micrognat... |
OMIM:309520 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Abnormality of the knee, Skeletal muscle atrophy, Scapular winging, Respir... |
ORPHA:98915 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... |
ORPHA:60041 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio... |
OMIM:614075 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic acidur... |
OMIM:251000 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:209905 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Prominent nasal bridge, Decreased res... |
OMIM:216550 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Poor wound healing, Prolonged bleeding... |
ORPHA:98879 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Wide nose, Thoracic scoliosis, Apnea, ... |
ORPHA:79330 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Crack... |
ORPHA:60033 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Ventricular septal defect, Anteverted nares, Depr... |
ORPHA:435638 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Neonatal respiratory distress, Ventricular ... |
ORPHA:457193 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Wide nose, Angina pectoris, Anteverted n... |
ORPHA:109 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Splenomegaly, ... |
ORPHA:2414 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect... |
OMIM:618950 |
Fg Syndrome Type 1 |
|
Micrognathia, Prominent nose, Atrial septal defect, Cryptorchidism, Microtia, Widely patent fonta... |
ORPHA:93932 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Crypt... |
ORPHA:2519 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Recurrent joint dislocation, Congenital hip dislocation, Recurrent sinusitis, Bruising susceptibi... |
OMIM:130010 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Osteoarthritis, Shoulder dislocation, Ecchymosis, Acr... |
ORPHA:287 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophi... |
OMIM:616277 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology |
ORPHA:401942 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,... |
ORPHA:2970 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Sensorineural hearing impa... |
ORPHA:290 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Optic atroph... |
OMIM:615042 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Frontoocular Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pulmonic stenosis, Low-set ears, ... |
OMIM:605321 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At... |
OMIM:265380 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Ecchymosis, Emphysema, Repeated pneumothoraces, Narrow nasal r... |
OMIM:130050 |
Al Amyloidosis |
|
Howell-Jolly bodies, Nonproductive cough, Abnormal salivary gland morphology, Abnormal EKG, Nephr... |
ORPHA:85443 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Rag... |
OMIM:613561 |
Ogden Syndrome |
|
Microretrognathia, Torticollis, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchid... |
ORPHA:276432 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cutis laxa, Ple... |
OMIM:615355 |
Cinca Syndrome |
|
Joint dislocation, Delayed closure of the anterior fontanelle, Hearing impairment, Abnormality of... |
ORPHA:1451 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... |
ORPHA:238329 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Enlargement of the ankles, Multiple joint contractures, Secundum atrial sep... |
ORPHA:99646 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Depressed nasal bridge, Patent ductus arterios... |
OMIM:618974 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Anteverted n... |
OMIM:615583 |
Mgat2-Cdg |
|
Abnormal bleeding, Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phy... |
ORPHA:79329 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Transient ischemic attack, Epistaxis, M... |
ORPHA:40923 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Depressed nasal bridge, Microm... |
ORPHA:166272 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper lim... |
ORPHA:494424 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Hypoplasia of th... |
OMIM:620157 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Joint subluxation, Wrist drop, Musc... |
ORPHA:1900 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Anteverted nares, Pa... |
OMIM:612863 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Sensorineural hearing impairment, ... |
ORPHA:3378 |
Hydranencephaly |
|
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... |
ORPHA:2177 |
Tetrasomy 15Q26 |
|
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear,... |
OMIM:614846 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Po... |
ORPHA:3309 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Atrial septal defect, Tricuspid regurgitation, Thoracolumbar ... |
ORPHA:230851 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, S... |
ORPHA:990 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Camptodactyly ... |
ORPHA:96167 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Posteriorly ... |
OMIM:613309 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Urinary i... |
OMIM:232300 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Posteriorly rotated ears, Hearing impairment, Cryptorchidism, Bulbous ... |
OMIM:618494 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Leukopenia, Thoracic kyphosis, Atrial septal defect, P... |
ORPHA:505248 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Chikungunya |
|
Abnormal bleeding, Epistaxis, Peripheral nerve compression, Raynaud phenomenon, Cervical lymphade... |
ORPHA:324625 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Encephalocele, Aplasia/Hypoplasia of th... |
ORPHA:1908 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Depressed nasal bridge, Redundant skin, Micromelia, Abnormal sacroiliac joint morpho... |
ORPHA:1860 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Short thumb, Muscular ventricular septal defect, Wide nasal bridge, Intrinsic hand... |
OMIM:618569 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, Flexion contracture, Atrial septal defect, Contracture of the proximal interphal... |
OMIM:300166 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, External ear malformation,... |
ORPHA:251071 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Pallor, Hypothyroidism, Hyperplasia... |
ORPHA:231226 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Striae distensae, Angina pectoris, ... |
ORPHA:758 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Ventricular septal defect, Choanal atresia, Micrognathia,... |
OMIM:610536 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Epidermolysis Bullosa Simplex 5A, Ogna Type |
|
Skin fragility with non-scarring blistering, Bruising susceptibility |
OMIM:131950 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Depressed nasal bridge... |
ORPHA:284169 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Osteoarthritis, Decreased compound muscle action potential amplitude, Descendin... |
OMIM:620080 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Butterfly vertebra... |
ORPHA:52 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Anteverted nare... |
OMIM:619343 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bac... |
ORPHA:97214 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Microg... |
OMIM:608572 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Severe B lymphocytopenia, Micrognathia, Underdeveloped nasal alae, Contract... |
ORPHA:83617 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Broad nasal tip,... |
OMIM:617808 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... |
ORPHA:2847 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Diaphragmatic eventration, Neonatal respiratory distress, Ventricular septal de... |
OMIM:620025 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... |
OMIM:613795 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Hypogonadism, Recurrent ot... |
OMIM:615993 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Adrenal hypopla... |
ORPHA:230839 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Scoliosis, Macrotia |
OMIM:300934 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:610655 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Depressed nasal bridge, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Scoliosis, Camp... |
OMIM:619751 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Leptospirosis |
|
Respiratory distress, Papilledema, Pericarditis, First degree atrioventricular block, Jaundice, R... |
ORPHA:509 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Peripheral axonal neuropathy, Depressed nasal bridge, Sensorin... |
OMIM:609242 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Tho... |
OMIM:300472 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Prominent nose, Underdev... |
ORPHA:2637 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Ur... |
ORPHA:810 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Cutis marmorata, Cryptorchidism, Patent ductus arter... |
OMIM:612938 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen... |
ORPHA:3097 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Depressed nasal bridge, Posteriorly rotated ears, Secundum atrial septal d... |
OMIM:613355 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Recurrent respiratory infections, Anteverted nares, Craniosynostosis, Patent du... |
ORPHA:1790 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos... |
ORPHA:508488 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Cutis marmorata, Craniosynostosis, Moyamoya phenomenon |
ORPHA:401986 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:618624 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... |
OMIM:313900 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Malar flattening, Dyspnea, Patent ductus arteriosus, Bulbous nose, Patell... |
ORPHA:261279 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Flexion con... |
ORPHA:77260 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Micrognathia, Hypothyroidism, Dental malocclusion, Scoliosis, Atrial septa... |
OMIM:610883 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, T lymphocytopenia, Neutropenia, Hypothyroidism, Juvenile rheumatoi... |
OMIM:607944 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Nonproducti... |
ORPHA:2902 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Aspiration p... |
ORPHA:354 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Thoracic scoliosis, Prematurely aged appearance, Redundant skin, Car... |
OMIM:618000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, A... |
OMIM:243700 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Sp... |
ORPHA:335 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:243500 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Abnormal form of the ve... |
ORPHA:93262 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Conductive hearing impairment, Short metatarsal, Wide nasal bri... |
ORPHA:217017 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Posteriorly rotated ... |
OMIM:605275 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Te... |
OMIM:208050 |
Wolcott-Rallison Syndrome |
|
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chronic kidney disea... |
ORPHA:1667 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Anteverted nares, Ventr... |
OMIM:616651 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Facial hypotonia, Prominent ... |
ORPHA:261311 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Myocarditis, Sensorineural he... |
ORPHA:728 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Wide nose, Eosinophilia, Micrognathia, Recurrent pneumonia, Bro... |
OMIM:618282 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Abnormal form of the vert... |
ORPHA:581 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Thoracic scoliosis, Lumbar hyperlordosis, Depressed nasal bridg... |
OMIM:212720 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Anteverted nares, Depressed nasal... |
ORPHA:314655 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Mitr... |
ORPHA:83473 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Atrial septal defect... |
ORPHA:93946 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Pallor, Hypothyroidism, Hyperplasia of the maxill... |
ORPHA:231214 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Micrognathia,... |
OMIM:616897 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Depressed nasal bridge, Thickened helices, Posterio... |
OMIM:610733 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Depressed nasal bridge, Choanal atresia, ... |
OMIM:300968 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Abnormal pinna morphology, Micrognathia, R... |
ORPHA:3078 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Neutropenia, Abnormal heart morphology |
ORPHA:79284 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Hy... |
ORPHA:254913 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, ... |
ORPHA:398156 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... |
ORPHA:37553 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Anteverted nares, Sag... |
OMIM:615879 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... |
OMIM:610198 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Premature graying of hair, Adult onset sensorineura... |
ORPHA:90324 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Mitral valve prolaps... |
ORPHA:90653 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, ... |
OMIM:603387 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Wheezing, Tricuspid regurgitation, Crackles, Cough, Atelectasis, Mediastinal lymphadenopathy, Leu... |
OMIM:620233 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Bulbous nose,... |
OMIM:616682 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Redundant neck skin, Cardiomyopathy, Pulmonary hypoplasia, Neonata... |
OMIM:619003 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Anteverted nares, Depressed nasal bridge, Optic atrophy, Per... |
OMIM:606812 |
Short-Rib Thoracic Dysplasia 12 |
|
Holoprosencephaly, Short palm, Neonatal death, Patent foramen ovale, Atelectasis, Patent ductus a... |
OMIM:269860 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respira... |
OMIM:614299 |
Alg3-Cdg |
|
Abnormal pinna morphology, Abnormality of the nose, Abnormality of the endocrine system, Coarctat... |
ORPHA:79321 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Wide nose, Short femur, Abnormal pinna morphology, Rhizomeli... |
OMIM:607143 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... |
OMIM:616037 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Depressed nasal bridge, Thickened helices, Cryptorchidism, Dry skin, Arrhy... |
OMIM:611553 |
Immunodeficiency 9 |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Ectodermal dysplasia, Hypopla... |
OMIM:612782 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Abnormal pinna morphology, Pa... |
ORPHA:52055 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Limited elbow movement, Cranio... |
OMIM:265050 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebra... |
ORPHA:192 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Posteriorly rotated ears, Malar flattening, Pa... |
OMIM:612582 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171300 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficien... |
ORPHA:207 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impairment, Respiratory dis... |
OMIM:616974 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Ventricular septal defect, Micromelia, Hypoplasia o... |
OMIM:617895 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Supernumerary nipple, Hypoplasia of the maxilla, Patent ductus arterio... |
OMIM:106260 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Broad nasal tip, Cupped ear, Dental malocclusion, Hip dislocation, Coa... |
OMIM:300867 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Anteverted nares, Patent ductus arteriosus, Bulbous nose, Optic atroph... |
OMIM:220500 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... |
ORPHA:254361 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia, Upper airway obstruction, P... |
OMIM:612776 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Ventricular septal defect, Posteriorly rotated ears, Delayed eruption of perman... |
OMIM:618506 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bul... |
ORPHA:485405 |
Cushing Disease |
|
Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Incre... |
ORPHA:96253 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe... |
OMIM:619769 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis, Leukopenia, Ray... |
ORPHA:289390 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coa... |
OMIM:620210 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Erythema, Lymphadenopathy, Urticaria, Arthritis, Acrocya... |
ORPHA:343 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Kyphosis, Pate... |
OMIM:617061 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Cutis marmorata, Micrognathia, Patent ductus arteriosus, Arterial ste... |
ORPHA:1556 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Death in infancy, Ventricular septal defect, Hearing impairment, Micrognathia,... |
OMIM:208085 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Micrognathia, Hypoplasia of the maxilla, Flexion cont... |
ORPHA:96334 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, P... |
ORPHA:48435 |
Filippi Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Low hanging columella, Opti... |
OMIM:272440 |
Noonan Syndrome 13 |
|
Prominent metopic ridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryptorchidism... |
OMIM:619087 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Apnea, Micrognathia, Atrial septal defect, Small earlobe, Low-set, ... |
ORPHA:2886 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Genu recurvatum, ... |
ORPHA:915 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,... |
OMIM:606763 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... |
OMIM:616367 |
De Barsy Syndrome |
|
Decreased muscle mass, Congenital hip dislocation, Prominent veins on trunk, Emphysema, Cryptorch... |
ORPHA:2962 |
Esophageal Atresia |
|
Subglottic stenosis, Respiratory distress, Maternal diabetes, Bronchitis, Abnormality of the ear,... |
ORPHA:1199 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity... |
OMIM:615368 |
Mosaic Trisomy 16 |
|
Abnormal ear morphology, Ventricular septal defect, Maternal diabetes, Abnormality of the nose, L... |
ORPHA:1708 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... |
ORPHA:536471 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d... |
OMIM:617159 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Ventri... |
ORPHA:26793 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema |
OMIM:143850 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Joint dislocation, Prominent superficial veins, Gingival bleeding, Scoliosis, Umbilical hernia, B... |
OMIM:617174 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Protrusio acetabuli, Arterial tortuosity, Pneumothorax, Retro... |
OMIM:614816 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the... |
ORPHA:2462 |
Temple-Baraitser Syndrome |
|
Wide nose, Depressed nasal bridge, Short columella, Pulmonic stenosis, Atrial septal defect, Thic... |
OMIM:611816 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Dislocat... |
OMIM:182212 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Bulbo... |
ORPHA:329224 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, Laryngotracheomalacia, Patent foramen ovale, Antev... |
OMIM:618454 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Orchitis, Angioedema, Vasculitis, Optic atrophy, Erythema, Skin ulce... |
ORPHA:761 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micromelia, Genu valgum, Hypoplasia of the e... |
ORPHA:1035 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Atrial septal defect, Vertebral fusion, Pericar... |
OMIM:139210 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Mitral regurgitat... |
ORPHA:313892 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Narrow nasal bridge, Short palm, Ventricular septal defect, Anteverted nare... |
ORPHA:254346 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Paten... |
OMIM:617751 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Prominent nasal bridge, Abnormal pinna morphology, Cryptorchidism, Mac... |
OMIM:617452 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Short palm, Conductive hearing impairment, Atrial septal defect, Spina bifida oc... |
OMIM:235510 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te... |
ORPHA:1051 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Anteverted nares, Abnormal pinna morphology, P... |
ORPHA:75389 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... |
OMIM:300998 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neopl... |
ORPHA:99889 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Block vertebrae, Spina bifida, Missing ribs, Prec... |
OMIM:304050 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Death in infancy, Hyperthyroidism, Ventricular septal defect, Truncus arterios... |
ORPHA:2008 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod... |
ORPHA:1106 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Hypopl... |
OMIM:608328 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Redundant skin, Micrognathia, Hypoplasia of the abd... |
OMIM:612289 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Abnormal pattern of respiration |
ORPHA:88619 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Scoliosis... |
OMIM:601216 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... |
OMIM:616777 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Redundant skin, Bilateral cryptorchidism, Protruding ear, Atrial septal ... |
OMIM:617403 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Broad nasal tip, Ky... |
OMIM:617190 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Palmoplanta... |
OMIM:616564 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Conductive hearing impairment, Depressed nasal bridge, Pulmonary artery stenosi... |
OMIM:280000 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... |
ORPHA:949 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thickened helices, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Cryptorch... |
OMIM:617506 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, Cardiac arrest, Myofiber disarray... |
OMIM:604377 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Camptodactyly of finger, Tracheomalacia, Atelectasis, Atrial septal defect, ... |
ORPHA:896 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Atrial septal defect, Dislocated radial hea... |
OMIM:605039 |
Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Kyphoscoliosis, Intraventricular hemorrhage, Hearing abnormality, Hip disl... |
OMIM:616507 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Underdeveloped nasal ala... |
OMIM:263210 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Wide anterior fontanel, Patent ductus arterio... |
OMIM:300963 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Adrenal hypoplasia, Micrognathia, Death in childhood, Neonatal respiratory d... |
OMIM:214100 |
Kleefstra Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Thickened helices, Advanced eruption of teeth, Chro... |
ORPHA:261494 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metaca... |
ORPHA:228190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Protruding ear, Mitral regurgitation, Aortic root aneu... |
OMIM:301039 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Abnormal optic disc morphology, Atr... |
ORPHA:96121 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Wrist s... |
OMIM:166300 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Hearing impairment, Spina bifida, Sco... |
ORPHA:2345 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... |
OMIM:619356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
Abruzzo-Erickson Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Short toe, Radio... |
ORPHA:921 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, Redundant skin, Protruding ear, Abnormal bleeding, Micr... |
ORPHA:2953 |
Scorpion Envenomation |
|
Bundle branch block, Tachypnea, Prominent U wave, Ketonuria, ST segment depression, Glycosuria, A... |
ORPHA:466677 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruisin... |
ORPHA:231401 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee flexion contract... |
OMIM:617402 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... |
ORPHA:363528 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Micrognathia, Flexion contracture, ... |
OMIM:617468 |
Gaisböck Syndrome |
|
Plethora, Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Overweight,... |
ORPHA:90041 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Uplifted earlobe, Asplenia, Flexion contracture, Ab... |
ORPHA:261552 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Underdeveloped nasal... |
ORPHA:166035 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Lympha... |
OMIM:617718 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, Atrial septal defec... |
ORPHA:2745 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Underdeveloped nasal alae, P... |
ORPHA:447980 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Precocious puberty, Optic disc colob... |
ORPHA:50 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Cohen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Kypho... |
ORPHA:193 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Micrognathia, Depressed nasal... |
OMIM:610759 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... |
ORPHA:308552 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Hypoplasia of the maxilla, Micrognathia, Short metatarsal,... |
ORPHA:439822 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Redundant skin... |
OMIM:616482 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Depressed nasal tip, Hypoplasia of teeth, Mitral regurgitation, Scoliosis, C... |
ORPHA:88630 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Skeletal muscle atrophy, Respiratory distr... |
OMIM:211530 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... |
ORPHA:70588 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Central hypoventilation, Underdeveloped nasal alae, L... |
OMIM:611961 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,... |
OMIM:613630 |
Complement Component 2 Deficiency |
|
Purpura |
OMIM:217000 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... |
OMIM:619326 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia |
ORPHA:721 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Abs... |
OMIM:300514 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:609053 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Depressed nasal bridge, Cervical kyphosis, Micromelia, Mi... |
OMIM:256050 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... |
OMIM:615582 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Elbow dislocation, Abnormal lung loba... |
ORPHA:2631 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitatio... |
OMIM:212140 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Intracranial hemorrhage,... |
ORPHA:447788 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Ventricular ... |
OMIM:616920 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp... |
ORPHA:1529 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Neutropenia, Atrial s... |
OMIM:618067 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Congenital diaphragma... |
ORPHA:2059 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Micrognathia, Atrial septal defect, Death in infancy, Tricus... |
OMIM:614866 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Apnea, Prominent nasal bridge, Prominent n... |
ORPHA:85201 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose, Optic atrophy, Protruding ear |
OMIM:618737 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Abnormal heart valve morphology, Recurrent pharyngitis, Congestive hea... |
ORPHA:2331 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutro... |
OMIM:603585 |
Fibrinolytic Defect |
|
Spontaneous hematomas |
OMIM:134900 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia,... |
OMIM:300978 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Micrognathia, Elbow dis... |
ORPHA:99776 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Biconvex vertebral bodies, Recurrent respiratory inf... |
OMIM:184260 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth,... |
OMIM:619142 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Wide nose, Ventricular septal defect, Prominent nasal bridge, Limb joint contracture, Cryptorchid... |
ORPHA:505237 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, Short thumb, Abnormal columella... |
ORPHA:436003 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Depressed nasal ridge, Panhypopituita... |
ORPHA:2162 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Reduced circulating growth hormone concentration, Multiple muscular ventricular septal defects, R... |
OMIM:615508 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Optic atrophy, Wide nasal bridge, Limited elbow ... |
OMIM:615236 |
Char Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t... |
ORPHA:46627 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, Patent foramen ovale, Promine... |
OMIM:617746 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Small hand, Low-s... |
ORPHA:459061 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, Short metatarsal, Protruding ear, Atrial septal defect, Spina bifid... |
ORPHA:96148 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Cat Eye Syndrome |
|
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... |
OMIM:115470 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Anteverted nares, Choanal atresia, Depressed nasal bridge, Craniosynostosis... |
ORPHA:1555 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Myositis, Flexion contracture, Muscle fiber atrophy, ... |
ORPHA:258 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Neonatal asphyxia, Heart murmur, Hypoplasia of teeth, Microtia, Recurrent otitis ... |
ORPHA:2728 |
Wiedemann-Steiner Syndrome |
|
Wide nose, Micrognathia, Broad nasal tip, Contracture of the distal interphalangeal joint of the ... |
OMIM:605130 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Multiple join... |
OMIM:245600 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Ventricular septal defect, Anteverted... |
OMIM:609942 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Genu recurvatum, Anteverted nares, Ventricular septal defect, ... |
ORPHA:1425 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Unde... |
ORPHA:453499 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Promi... |
OMIM:170390 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Cough, Nonproductive cou... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocy... |
ORPHA:3392 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc... |
ORPHA:182050 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Sudden card... |
OMIM:614921 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa... |
ORPHA:555874 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, De... |
OMIM:617140 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Ventricular septal defect, Camptodactyly of ... |
ORPHA:1488 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal ... |
OMIM:244450 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Myelo... |
ORPHA:268882 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Micrognathia, Craniofacial osteosclerosis, Conductive hearing impairment, Atrial septal de... |
OMIM:300373 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t... |
ORPHA:52429 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Cough, Atrial septal defect, Hypothyroidism, Patent foram... |
OMIM:620005 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Cryptorchidism,... |
ORPHA:452 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Cutis marmorata, Hydrocephalus, Large earlobe,... |
OMIM:602501 |
Moebius Syndrome |
|
Respiratory distress, Abnormal nasopharynx morphology, Abnormal pinna morphology, Depressed nasal... |
OMIM:157900 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Aplasia/... |
ORPHA:2256 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Wide nasal bridge, Platyspondyly, Low-set ears |
ORPHA:93267 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous... |
ORPHA:369891 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... |
ORPHA:45452 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Hear... |
OMIM:618619 |
Developmental And Epileptic Encephalopathy 90 |
|
Ankle clonus, Apneic episodes in infancy, Atrial septal defect, Hypothyroidism, Limb hypertonia |
OMIM:301058 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenom... |
OMIM:616589 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myo... |
OMIM:253800 |
Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, T... |
ORPHA:77259 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Posteriorly rotated ears, Sagittal craniosynostosis, Wide nasal bridge... |
OMIM:314320 |
Alg9-Cdg |
|
Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Large fleshy ears, Abnormal l... |
ORPHA:79328 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Bulbous... |
OMIM:192430 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Hydrocephalus, Dilated cardiomyop... |
ORPHA:79282 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Ventri... |
ORPHA:1458 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal a... |
ORPHA:141127 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Wide nasal bridge, Short hallux, Broad nasal tip |
OMIM:620393 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dil... |
ORPHA:367 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Joint contracture, ... |
OMIM:618005 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Micrognathia, ... |
OMIM:270450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Anteverted nares, Ventricular septal defect, Uplifted earlobe, Kyphosis, Recurrent pneumonia, Sco... |
OMIM:616449 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Cyst... |
OMIM:613730 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... |
OMIM:113000 |
Chromosome 10Q26 Deletion Syndrome |
|
Scapular winging, Congenital hip dislocation, Lumbar hyperlordosis, Craniosynostosis, Prominent n... |
OMIM:609625 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Hy... |
ORPHA:177907 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Anteverted nares, De... |
ORPHA:97360 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... |
OMIM:235400 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morp... |
ORPHA:667 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Depressed nasa... |
ORPHA:87 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Micrognathia, Cryptorchidism, H... |
ORPHA:1865 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormality of the temporomandibular joi... |
ORPHA:137888 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary valve cusp morphology, Nonproductive cough, Tricuspid regurgitation, Chronic n... |
ORPHA:97287 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Prominent metopic ridge, Bicuspid aortic valve, Hearing impairment, Genu v... |
OMIM:619721 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Vitreous hemorrhage, Abnormal optic disc morphology, Retinal neovasculari... |
ORPHA:891 |
Zellweger Syndrome |
|
Death in infancy, Depressed nasal bridge, Ventricular septal defect, Micrognathia, External ear m... |
ORPHA:912 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Failure to thrive, Bicuspid a... |
OMIM:617744 |
White-Sutton Syndrome |
|
Mandibular prognathia, Wormian bones, Depressed nasal bridge, Optic nerve hypoplasia, Posteriorly... |
OMIM:616364 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... |
OMIM:617194 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Lymphadenopath... |
ORPHA:142 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Posteriorly r... |
OMIM:615948 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge, Short 5th finger, Patellar dislocation,... |
OMIM:618821 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Abnormal cardiac s... |
OMIM:615009 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Genu varum, Death ... |
OMIM:274000 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... |
OMIM:619268 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Wi... |
ORPHA:3338 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Sensorine... |
ORPHA:36412 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Restrictive ventilatory defect, Men... |
OMIM:614073 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Congenital hip dislocation, Anteverted nares, Redundant neck skin, Delayed... |
ORPHA:357074 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... |
OMIM:619995 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Recurrent respiratory infections, Ventricular septal def... |
ORPHA:261330 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... |
ORPHA:94066 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Ventricular septal defect, Choanal atresia, ... |
ORPHA:494344 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Posteriorly rotated ears, Choanal atresia... |
ORPHA:2759 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Low-set, posteriorly rotated ears, Wide nose, Apnea, Rhabdomyosarcoma, Micr... |
ORPHA:1052 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Splenomegaly, Patent ductus arteriosus, Supernumera... |
OMIM:617088 |
Even-Plus Syndrome |
|
Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Coronal cleft vertebrae, Microtia, At... |
OMIM:616854 |
Menkes Disease |
|
Intracranial hemorrhage, Wormian bones, Cutis laxa, Death in childhood |
OMIM:309400 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Conductive hearing impairment, Bulbous nose, ... |
OMIM:244300 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Lymphadenopathy, Scaling ... |
ORPHA:293173 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ve... |
OMIM:619167 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Hearing abnormalit... |
ORPHA:2077 |
Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Micrognathia, Prominent nose, Broad ... |
ORPHA:96168 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Skeletal muscle atrophy, Short femur, Sho... |
ORPHA:17 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Pulmonary artery hypoplasia, Emphysema, Depressed ... |
OMIM:245150 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Broad nasa... |
OMIM:619542 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Posteriorly rotated ear... |
OMIM:264480 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Prom... |
OMIM:610443 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Allergic rhinitis, El... |
OMIM:618162 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Metopic suture patent to nasal root... |
ORPHA:3369 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Hemivertebrae, Aspiration pneumonia, Spina bifida occu... |
ORPHA:79500 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Chops Syndrome |
|
Ventricular septal defect, Anteverted nares, Tracheomalacia, Cryptorchidism, Patent ductus arteri... |
OMIM:616368 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing |
OMIM:262800 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Congestive heart failure, Nephrocalcinosis, Atrial septal defect, Failure to thrive, Diabetes ins... |
ORPHA:500533 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Ani... |
OMIM:618278 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... |
ORPHA:95716 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Encephalocele, Prominent metopic ridge, Posteriorly rotated ears, Choa... |
OMIM:619148 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic... |
OMIM:615156 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Vertebral segmentation defect, Conducti... |
ORPHA:2990 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multiple small vertebral fract... |
OMIM:156510 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Anteverted nares, Mi... |
OMIM:616894 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear |
OMIM:618302 |
Medulloblastoma |
|
Hydrocephalus, Cerebellar hemorrhage, Vertigo, Neoplasm of the lung, Bilateral sensorineural hear... |
ORPHA:616 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor... |
OMIM:300219 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognath... |
OMIM:154400 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, Hyperlordosis, F... |
ORPHA:2780 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:226313 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Prominent metopic ridge, Ventricular septal defect, Depressed nasal br... |
OMIM:613457 |
Costello Syndrome |
|
Redundant neck skin, Limited elbow movement, Micrognathia, Atrial septal defect, Lymphangiectasis... |
OMIM:218040 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Aspirat... |
ORPHA:444077 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal sten... |
OMIM:619895 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb under... |
ORPHA:1423 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Primary Release Disorder Of Platelets |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia |
OMIM:176630 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Bulbous nose, Scoliosis, Atrial septal defect, Abnormality of the outer ear |
ORPHA:466926 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... |
OMIM:130060 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Persistent open anterior fontanelle, Facial hypotonia, Poor wound healing, Mitral valve prolapse,... |
OMIM:615539 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... |
ORPHA:521308 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Kyphosis, Optic atrophy, Genu valgum, Intracrani... |
ORPHA:394 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Wide nose, Anteverted nares, Posteriorly rotated e... |
OMIM:213980 |
Lambotte Syndrome |
|
Ventricular septal defect, Retrognathia, Atresia of the external auditory canal, Macrotia, Convex... |
OMIM:245552 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Tarsal synostosis, Micrognathia, Venous insufficiency, Aplasia/Hypop... |
ORPHA:565 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:90307 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Asplenia, Absent... |
OMIM:244400 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Tracheomalacia... |
ORPHA:513456 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Depressed nasal bridge, Ventricular septal defect, Sagittal cranio... |
OMIM:616901 |
Nelson Syndrome |
|
Increased urinary cortisol level, Striae distensae, Lower limb muscle weakness, Testicular neopla... |
ORPHA:199244 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, Bron... |
OMIM:208900 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, H... |
OMIM:609460 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Protr... |
ORPHA:85279 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Posteriorly rotated ears, Long nose, Patent ductus arteriosus, Bulbous... |
OMIM:620113 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Cyanosis, ... |
OMIM:619879 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductu... |
ORPHA:284984 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Normo... |
OMIM:618775 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... |
ORPHA:805 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Anteverted nares,... |
OMIM:619720 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Microgn... |
OMIM:300712 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Ventricular septal defect, Anteverted nares, Kyphosis... |
ORPHA:464738 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Vertebral segmentation defect, Abnormal tricuspid valve morphology, Atrial septal d... |
ORPHA:1507 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wide nasal bridg... |
OMIM:601499 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Pallor, ... |
OMIM:105650 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Thick nasal alae, Anteverted nares, Depress... |
ORPHA:1465 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Anteverted nares, Micrognathia, Kyphosis, Cryp... |
ORPHA:261250 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Atelectas... |
ORPHA:2357 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Anteverted nares, Depressed n... |
ORPHA:1340 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal arteriolar occlusion, Retinal neova... |
OMIM:193220 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Cutis marmorata, Hypoplasia of the cochlea, Optic disc coloboma, Cuppe... |
OMIM:613398 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Poor wound healing, Arterial rupture, Scoliosis, Atrial septal defec... |
OMIM:619115 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxill... |
OMIM:277600 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Wide anterior fontanel, Hydro... |
OMIM:207410 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Depressed nasal br... |
OMIM:618027 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Micrognathia, Atrial septal defect, Abnormal bleeding, Juvenile... |
OMIM:163950 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea, Bronchiectasis, Abnormal pulmon... |
OMIM:612387 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
C Syndrome |
|
Short metacarpal, Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Microgna... |
OMIM:211750 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... |
OMIM:101800 |
Cerebrofacioarticular Syndrome |
|
Tracheomalacia, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Wide... |
ORPHA:314679 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Kyphoscoliosis, Sensorineural hearing impairment, Arterial rupture, Myop... |
ORPHA:300179 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Adrenal calcification, Cardiomegaly... |
ORPHA:51608 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of ... |
OMIM:614749 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Prominent superficial veins, Short metacarpal, Depressed nasal bridge,... |
OMIM:612350 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Prominent nasal bridge, Narrow nasal ridge... |
OMIM:616914 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... |
ORPHA:590 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Malar flatten... |
OMIM:218350 |
Zaki Syndrome |
|
Wide nose, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arterio... |
OMIM:619648 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Failure to thrive, Pneumonia, Decreased response to growth hormone stimulat... |
OMIM:603467 |
Radio-Tartaglia Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Prominent nasa... |
OMIM:619312 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Hydrocephalus, Abnorm... |
ORPHA:538 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity, Micrognathia, Descending thoracic a... |
OMIM:609192 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a... |
ORPHA:75249 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Supernumerary nipple, Wi... |
OMIM:257920 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Abnormal lung lobation, Conductive hearing impairme... |
OMIM:607872 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Absent radius, Hydrocephalus, Persistent left superior vena cava, Tr... |
OMIM:314390 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Choanal stenosis, Myeloid leukemia, Streak ovary, Wide anteri... |
ORPHA:798 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Micrognathia, Depressed nasal... |
OMIM:114290 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipple, Cryptorchidism, Low-se... |
OMIM:615102 |
Tetanus |
|
Respiratory distress, Tachycardia, Trismus, Tachypnea, Hypertension, Abnormal autonomic nervous s... |
ORPHA:3299 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Redundant skin, Micrognathia, Prominent veins on trunk, Kn... |
ORPHA:536532 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Wide nose, Ventricular septal defect, Mitral atresia, Anteverted nares, Depr... |
OMIM:614609 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Micrognathia, Dental malocclusion, Optic ... |
ORPHA:329178 |
Coffin-Siris Syndrome 5 |
|
Wide nose, Depressed nasal bridge, Atrial septal defect, Thick nasal alae, Short distal phalanx o... |
OMIM:616938 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Depressed nasal bridge, R... |
OMIM:258315 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Redundant neck skin, Anteverted nares, Depressed nasal bridge,... |
OMIM:123790 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Cupped ear, Small thenar eminence, Joint contracture of the ... |
OMIM:618914 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Angiokeratom... |
ORPHA:324 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Shoulder dislocation, Choanal stenosis, Atrial septal defect, Up... |
OMIM:607323 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Cutis marmorata, Epistaxis, Congestive hear... |
ORPHA:727 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu va... |
OMIM:608154 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Macroglossia, Transposition of the great ar... |
OMIM:616789 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic lung disease, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnorm... |
ORPHA:319487 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Micrognathia, Abnormal cardiac ventricle ... |
ORPHA:284979 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... |
ORPHA:178320 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Patent ductus arteriosus, Dent... |
OMIM:613680 |
Joubert Syndrome 3 |
|
Central apnea, Anteverted nares, Episodic tachypnea, Wide nasal bridge, Low-set ears, Atrial sept... |
OMIM:608629 |
Alazami Syndrome |
|
Wide nose, Cutis marmorata, Low-set ears, Scoliosis, Atrial septal defect, Malar flattening |
ORPHA:319671 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Conductive hearing impai... |
ORPHA:1131 |
Superficial Siderosis |
|
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Partial anosmia, Vertigo,... |
ORPHA:247245 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Otitis media, Conductive hearing impairment, Patent foramen ovale, Tela... |
ORPHA:576 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Erythema, Flexion c... |
OMIM:614653 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, ... |
ORPHA:2437 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size |
ORPHA:93950 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Lambert Syndrome |
|
Malar flattening, Branchial anomaly, Ventricular septal defect, Jaundice |
ORPHA:1296 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Atrial sept... |
OMIM:150250 |
Cardiofaciocutaneous Syndrome 1 |
|
Peripheral axonal neuropathy, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears,... |
OMIM:115150 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Situs inversus totalis, Asplenia, ... |
OMIM:208540 |
Zygomycosis |
|
Sinusitis, Rhinorrhea, Acute infectious pneumonia, Neutropenia, Cough, Mediastinal lymphadenopath... |
ORPHA:73263 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... |
ORPHA:794 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... |
ORPHA:137675 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Depressed nasal bridge, Hypogonadotropic hypogonadism, Micrognathia, External e... |
ORPHA:251066 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Lymphopenia, Adrenal cortical sclerosis, Severe B lymphocytopenia, A... |
OMIM:102700 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Micrognathia, Congenital diaphragmatic hernia, Stenosis of the... |
OMIM:619699 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Broad nasal tip, Precocious puberty... |
ORPHA:3306 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Pulmonary hypoplasi... |
OMIM:616531 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... |
ORPHA:454836 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary ... |
OMIM:618021 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Congenital diap... |
OMIM:614080 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of... |
ORPHA:261344 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Protruding ear, Microtia, Hy... |
ORPHA:2316 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, ... |
ORPHA:2038 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphology, Hypoplas... |
ORPHA:178303 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Anteverted nares, Ventricular septal defect, Posteriorly rotated ears, Hyp... |
OMIM:619980 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Death in infancy, Hemolytic anemia, Macrocytic anemia, Skel... |
OMIM:615512 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Advanced ossification of carpal bones, Stillbir... |
OMIM:215045 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Respira... |
OMIM:607598 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Skeletal muscle atrophy, CNS foam cells, Nodular p... |
ORPHA:333 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Heart bl... |
OMIM:617063 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Adrenal hypoplasia, Micrognathia, Flexion contracture, Scali... |
OMIM:275210 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Conductive hearing impairme... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Conductive hearing impairme... |
ORPHA:352665 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Fasting hyperinsulinemia, Premature graying of hair, Atrial septal defect,... |
ORPHA:769 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Right atrial enlargement, Flexion contracture, Microretrogn... |
OMIM:614008 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Redundant neck skin, Anteverted nares, Narrow nasal ridge, Bulbous nose, Still... |
OMIM:236500 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Severe sensorineural hearing impairment, Atrioventric... |
ORPHA:500 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Depressed nasal bridge, Micromelia, Micrognathia, Hydr... |
OMIM:241800 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Sudden cardiac death, Spina bifida, Situs inversus totalis, Abno... |
ORPHA:991 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Depressed nasal bridge, Ventricular septal defect, Abnormality of neut... |
OMIM:169400 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... |
OMIM:300455 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, My... |
ORPHA:292 |
Hamamy Syndrome |
|
Hypoparathyroidism, Prolonged QRS complex, Anteverted nares, Craniosynostosis, Micrognathia, Micr... |
OMIM:611174 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Macrotia |
ORPHA:261304 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Ventricular septal defect, Depressed nasal br... |
OMIM:147791 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Kyphoscoliosis, Camptodactyly... |
OMIM:614815 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Atel... |
ORPHA:2314 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology, Camptodactyly |
OMIM:246560 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial inf... |
OMIM:150230 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the ear, Tric... |
ORPHA:2556 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... |
ORPHA:2791 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Antev... |
ORPHA:950 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Prominent nasal bridge, Long nose, Tracheobronchomalacia, Scoliosis, Short palm... |
OMIM:619184 |
Noonan Syndrome 7 |
|
Depressed nasal bridge, Thickened helices, Large earlobe, Pulmonic stenosis, Scoliosis, Atrial se... |
OMIM:613706 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Depressed nasal bridge, Rhizomelia,... |
OMIM:100800 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragm... |
ORPHA:2143 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Anterior open-bite malocclusion, Abnormal autonomic nervous sy... |
ORPHA:83601 |
Mosaic Trisomy 1 |
|
Microretrognathia, Thoracic scoliosis, Ventricular septal defect, Depressed nasal bridge, Camptod... |
ORPHA:1692 |
Fibrochondrogenesis 1 |
|
Short palm, Patent foramen ovale, Widely patent sagittal suture, Posterior vertebral hypoplasia, ... |
OMIM:228520 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hydrocephalus, Optic... |
OMIM:123500 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, Retrognathia, Varicose veins, Campto... |
OMIM:618343 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Anteverted nares, Dextrocardia, Micrognathia, Kyphosis, Wide anterior font... |
OMIM:248700 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Dyspnea, Tubulointerstitial nephritis, Death in childhood, Hypertrophic cardiomyopathy, Failure t... |
OMIM:614582 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Short palm, Tarsal synostosis, Short hallux, Micrognathia, Hypop... |
ORPHA:363417 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Large fleshy ears, Atrial septal defect, Prominent superior crus of antihelix, Patent foramen ova... |
ORPHA:280633 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Camptodactyly of toe,... |
ORPHA:261337 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Depressed nasal bridge, Craniosynostosis, Micrognathia, Precocious puberty, P... |
ORPHA:369837 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Congenital hip dislocation, Ventricular septal defect, Bicuspid ... |
ORPHA:457279 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Micrognathia, Knee flexion contracture, Short tibia, Death in infancy, An... |
OMIM:601559 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Kyphosis, Scoliosis, Low-set ears, Atrial sept... |
ORPHA:261190 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Decreased response ... |
OMIM:610829 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Recurrent respiratory infections, Distal lower limb amyotrophy, Facial hyp... |
OMIM:300534 |
Lymphatic Malformation 6 |
|
Abnormal pinna morphology, Micrognathia, Splenomegaly, Cupped ear, Hydrocele testis, Varicose vei... |
OMIM:616843 |
Granulomatosis With Polyangiitis |
|
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmon... |
OMIM:608710 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Hyperlordosis, Posteriorly ro... |
OMIM:617450 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Respiratory distress, Rhizomelia, Micrognathia, Congestive heart failure, Bulb... |
OMIM:616271 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Apnea |
ORPHA:79097 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones,... |
ORPHA:90652 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Al Kaissi Syndrome |
|
Torticollis, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, Broad n... |
OMIM:617694 |
Macs Syndrome |
|
Prolonged bleeding time, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Redund... |
OMIM:613075 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Abnormal nasal... |
ORPHA:404440 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Dilation of Virchow-Robin spaces, Congenital hip ... |
OMIM:619512 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Micrognathia, Microcytic anemia, Cryptorchidism, Short toe, Ap... |
ORPHA:98791 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... |
OMIM:109120 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Hypothyroidism, Hyperthyroidism, Facial pal... |
ORPHA:254892 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Pulmonary hypoplasia, Arthrogryposis ... |
OMIM:601809 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Congenital hip dislocation, Decreased muscle mass, Redundant skin, N... |
OMIM:612940 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Supernumerar... |
OMIM:600268 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Partial absence of toe, Anteverted nares, Patent ductus art... |
ORPHA:955 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormal dental enamel morphology, ... |
ORPHA:3071 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid fa... |
OMIM:123700 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Mitral valve prolapse, Wormian b... |
OMIM:166200 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Otitis media, Conductive hearing impairment, Atrial septal defect, Cryptor... |
ORPHA:353281 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Ventricular septal defect, Telangiectasia of the skin, Abnormal dental ename... |
ORPHA:2092 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Redundant neck skin, Ventricular septal defect, Micrognathia, Thyroid lymphangi... |
OMIM:235255 |
Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, A... |
ORPHA:252164 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic lung disease, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papi... |
ORPHA:97290 |
Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Abnormality of the adrenal gla... |
ORPHA:139466 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, 11 pairs of ribs, Depressed nasal bridge, Ventricular septal defect, Microgn... |
OMIM:620073 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ... |
ORPHA:93357 |
Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Disc-like vertebral bodies, Depressed nasal bridge, Ovoid vertebral bodies,... |
OMIM:151210 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Micror... |
OMIM:270400 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis... |
OMIM:619656 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Depressed nasal bridge, Subcut... |
ORPHA:79076 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Wide cranial sutures, Hyperparathyroidism, Dep... |
OMIM:618188 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Depressed nasal bridge, Carious teeth, Short metatarsal, ... |
OMIM:617102 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Hyperplasia of the maxilla |
OMIM:613671 |
Bleeding Disorder In Hemophilia A Carriers |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... |
ORPHA:177926 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Rh... |
OMIM:222765 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Depressed nasal bridge, Rhizomelia, Trach... |
OMIM:156550 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Atrial septal... |
ORPHA:500150 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Ventricular septal defect, Sensorineural hearing impairment, Fused cer... |
OMIM:214300 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Conductive hearing... |
ORPHA:261197 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Cutis marmorata, Abnormal pulmonary valve morphology,... |
ORPHA:974 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter... |
OMIM:301030 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Protruding ear, Pulm... |
OMIM:619123 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Supernumera... |
OMIM:612530 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Depressed... |
OMIM:600373 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Hydrocel... |
OMIM:615108 |
Fanconi Anemia |
|
Micrognathia, Leukopenia, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, H... |
ORPHA:84 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Supernum... |
ORPHA:217346 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobation, Abnormal form of the verte... |
ORPHA:818 |
Filippi Syndrome |
|
Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope... |
ORPHA:3255 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Anteverted nares, Craniosynostosis, Broad nasal tip, Cryptorch... |
ORPHA:363611 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Anteverted nares, Foot joint contracture, Micrognathia, Cryptorchidism... |
ORPHA:444072 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Vertigo, Hypotension, Cough |
ORPHA:99825 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Abnormal form of the vertebral bodie... |
ORPHA:2710 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated ears,... |
OMIM:617360 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Neuroma, Scoliosis, Vascular skin abnormality, Venous malformation |
ORPHA:221061 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Depressed nasal bridge, Kyphoscoliosis, Patent ductus arteriosus, Sensorineural hearing impairmen... |
ORPHA:397709 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Anteverted nares, Micrognathia, ... |
OMIM:164280 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, ... |
OMIM:615546 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Anteverted nares, Hypoplasia of the maxilla, Bu... |
ORPHA:481152 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Antevert... |
ORPHA:2969 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Congenital diaphragmatic hernia, Micrognathi... |
ORPHA:1915 |
Charge Syndrome |
|
Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Holoprosencephaly, Low-... |
ORPHA:138 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Cryptorchidism, Recurrent pneumonia, ... |
OMIM:619314 |
Chromosome 16P13.3 Duplication Syndrome |
|
Micrognathia, Tracheobronchomalacia, Protruding ear, Atrial septal defect, Anteverted nares, Depr... |
OMIM:613458 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Coarctat... |
ORPHA:268249 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Short... |
ORPHA:457395 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness, S... |
OMIM:300266 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular f... |
ORPHA:199241 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... |
OMIM:164210 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... |
OMIM:160900 |
Restrictive Dermopathy |
|
Multiple joint contractures, Micrognathia, Scaling skin, Atrial septal defect, Aplasia/Hypoplasia... |
ORPHA:1662 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... |
ORPHA:1302 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micromelia, Cryptorchidism, Hypopla... |
ORPHA:2772 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
2Q31.1 Microdeletion Syndrome |
|
Short palm, Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Microgna... |
ORPHA:251014 |
Arachnoid Cyst |
|
Encephalocele, Facial palsy, Subarachnoid hemorrhage, Abnormality of the endocrine system, Crania... |
ORPHA:2356 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Hydrocel... |
OMIM:615109 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Limb hypertonia, Respiratory fa... |
OMIM:620327 |
Lymphatic Malformation 13 |
|
Depressed nasal bridge, Unilateral deafness, Patent ductus arteriosus, Hydrocele testis, Mitral r... |
OMIM:620244 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Genu valgum, Limb undergrowth, Left superior vena cava draining to coronar... |
OMIM:619143 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal lung lobatio... |
OMIM:215140 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Abnormal lung lobation, Stillbirth, Aortic ... |
OMIM:615415 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliterat... |
ORPHA:49042 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Sudden cardi... |
ORPHA:537 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Microgna... |
ORPHA:96097 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Short femur, Cardiomegaly, Pneumothorax, Pulmonary... |
OMIM:620306 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Proteinuria, Ventricular septal defect, Nephrogenic diabetes insipidus, Jaundic... |
OMIM:613404 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia,... |
OMIM:617925 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Ventricular septal defect, Abnormal med... |
ORPHA:79243 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Atrial septal defect, Slender build, Diabetes insipidus |
OMIM:611087 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Skeletal muscle atrophy, Streak ovary, Abnormal perip... |
ORPHA:168563 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Glue ear, Micrognathia, Patent foramen ovale, Amelogenesis imperfect... |
ORPHA:3310 |
Keipert Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypoplasia of the distal ph... |
ORPHA:2662 |
Al-Raqad Syndrome |
|
Atrial septal defect, Short nose, Low-set ears |
OMIM:616459 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... |
ORPHA:391487 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Micrognathia, Flexion contracture, Generalized amyotrop... |
OMIM:620369 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Redundant skin, Congenital diaphragmatic hernia, Flexion contrac... |
ORPHA:171719 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Anteverted nares, Cryptorchidism, Conotruncal defect, Coarctation of aorta,... |
ORPHA:96147 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Vertigo, Hypoxemia, Syncope, Palpitations, ... |
ORPHA:464453 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Narrow nasal bridge, Hip contracture, Wide cranial sutures, Interphala... |
OMIM:259600 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Ventricular septal defect, Macrotia, Optic atrophy, Hypoplasia of teeth, Short ... |
OMIM:234050 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu... |
OMIM:224690 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenom... |
OMIM:602450 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus, Shor... |
ORPHA:1519 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... |
OMIM:245650 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... |
OMIM:617300 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Scoliosis |
OMIM:300676 |
Van Maldergem Syndrome 1 |
|
Wide cranial sutures, Short fourth metatarsal, Tracheomalacia, Micrognathia, Hypoplasia of the ma... |
OMIM:601390 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Ectodermal dysplasia, Atrial septal defect, Patent foramen ovale, Simple ear, Depre... |
OMIM:613610 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte... |
OMIM:615888 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Pallor... |
ORPHA:124 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasia of the patella, Absent radius... |
ORPHA:3320 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... |
ORPHA:96129 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left hear... |
OMIM:617660 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryp... |
OMIM:257300 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Anteverted nares, Abnormal ... |
OMIM:610253 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Craniosynostosis, Puberty and gonadal disorders, Congestive heart failure, T... |
ORPHA:525731 |
Zika Virus Disease |
|
Miscarriage, Ankle swelling, Wrist swelling, Thrombocytopenia, Arthritis, Abnormal optic disc mor... |
ORPHA:448237 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:619267 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Depressed nasal ridge, Neonatal death, Pterygium, Patent foramen ovale,... |
OMIM:256520 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Depressed nasal bridge, Kyphoscoliosis, Sensorineural hearing impairment, Hyposegmentation of neu... |
OMIM:620075 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Precocious puberty, ... |
ORPHA:2588 |
Gabriele-De Vries Syndrome |
|
Posteriorly rotated ears, Aortopulmonary collateral arteries, Facial hypotonia, Broad nasal tip, ... |
OMIM:617557 |
Ververi-Brady Syndrome |
|
Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Cupped ear, Transposition of the great ... |
OMIM:617982 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Conductive hearing impairment, Atrial septal defect, Hypoplasia of the pri... |
OMIM:618371 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Adrena... |
OMIM:157170 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Kyphosis, Patent ductus arteriosus, Varicose veins, Chyl... |
OMIM:153400 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Patent foramen ovale, Hypothyroidism, Simple ear, Anteverted nares,... |
OMIM:619325 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Retrognathia, Scoliosis, Cond... |
ORPHA:561 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent na... |
OMIM:610828 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctati... |
ORPHA:42775 |
Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Abnormal cartilage morphology, Abno... |
ORPHA:2347 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... |
OMIM:164310 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Micrognathia, Hyperlordosis, Mitral valve prolapse, Scoliosis, Atrial ... |
OMIM:300986 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn... |
ORPHA:1307 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... |
OMIM:612394 |
Agel Amyloidosis |
|
Proteinuria, Respiratory tract infection, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, C... |
ORPHA:85448 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ky... |
OMIM:300967 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Abnormal capillary physiology, Erythema, Angioedema, Upper airway obstructi... |
ORPHA:100057 |
Degcags Syndrome |
|
Micrognathia, Prominent nose, Premature graying of hair, Leukopenia, Iron deficiency anemia, Pall... |
OMIM:619488 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Lymphopenia, Scapular winging, Posteriorly rotated ears, Prominent nasal br... |
OMIM:619745 |
Aarskog-Scott Syndrome |
|
Short palm, Decreased serum testosterone concentration, Anteverted nares, Elevated circulating lu... |
OMIM:305400 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Conductive hearing impairment, Atrial sept... |
ORPHA:2044 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia |
OMIM:618174 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Congenital pulm... |
ORPHA:436252 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Apnea, Aspiration pneumonia, Atrial septal defect, Hypothyroidism, Patent ... |
ORPHA:438213 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosenceph... |
OMIM:601357 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Goiter, Thyroiditis, Hydrocel... |
OMIM:158350 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Hip dislocation, Cutis laxa, Abnormal heart morphology, Emphysema |
OMIM:614100 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Op... |
OMIM:610505 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wide... |
OMIM:224410 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... |
ORPHA:77298 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k... |
OMIM:600901 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Genu recurvatum, Mitral valve prolapse, Mitral regurgitation, Bruising susc... |
OMIM:225320 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... |
ORPHA:533 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Narrow nose, Underdeveloped nas... |
OMIM:164200 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Macrotia |
ORPHA:93945 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Subvalvular aortic... |
OMIM:613001 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, Dyspnea, Optic atrophy, Respiratory failure, Retrognathia |
ORPHA:2707 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsuli... |
ORPHA:79474 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist ... |
OMIM:268300 |
Singleton-Merten Syndrome 1 |
|
Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, Muscle fiber atroph... |
OMIM:182250 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect |
OMIM:615476 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Cong... |
OMIM:606164 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta, Low-set, posteriorly rotated ears |
ORPHA:2475 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontanelle, Micrognathia, Redu... |
OMIM:225410 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Patent ductus arteriosus, Aplasia/Hypoplasia of the nasal bone, Conduc... |
ORPHA:2095 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Depressed nasal bridge, Cervical kyphosis, Rhizomelia, Micrognathia... |
OMIM:108721 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Protruding ear, Atrial septal defect, Abnormal dental pulp morphology, S... |
ORPHA:363700 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... |
ORPHA:3236 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Stroke, Cerebral ischemia |
ORPHA:927 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Depressed nasal bridge, Butterfly vertebral ar... |
OMIM:118450 |
Hardikar Syndrome |
|
Atrial septal defect, Patent foramen ovale, Thoracolumbar scoliosis, Portal hypertension, Patent ... |
OMIM:301068 |
Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El... |
OMIM:617137 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Beaking of vertebral bodies, Kyphoscoliosis, Progeroid facial appearance, ... |
OMIM:231070 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Vertebral segment... |
OMIM:312870 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Wide anterior fontanel, ... |
OMIM:231680 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ventricular septal defect, Anteverted nares, Splenomegaly, Leukocyt... |
OMIM:615673 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip |
ORPHA:2776 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Arthrogryposis multiplex c... |
OMIM:614961 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cutis marm... |
OMIM:100300 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Dislocated radial head, Ante... |
OMIM:102500 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Micro... |
OMIM:613804 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Bulbous nose, Patent ductus arteriosus, Atre... |
ORPHA:2328 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... |
OMIM:147920 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel,... |
OMIM:619135 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Depressed nasal bridge, Ventricular septal defect, Posteriorly rotated... |
OMIM:222448 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Posteriorly rotated ears, Abnormal ... |
ORPHA:228396 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Prominent nasal bridge, Low-set ears, Limb hypertonia |
OMIM:618480 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Wide nose, Bicuspid aortic valve, Depressed nasal bridge, Narrow nose, Broad nasal tip, Valvular ... |
OMIM:300707 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Otitis media, Conductive hearing impai... |
OMIM:122470 |
Vici Syndrome |
|
Lymphopenia, Wide nose, Recurrent respiratory infections, Depressed nasal bridge, Micrognathia, C... |
OMIM:242840 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Death in childhood, Thrombocytopenia |
OMIM:615597 |
Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia |
ORPHA:673 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Myelomeningocele, Absent or minimally ossified vertebral bodi... |
ORPHA:66637 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Hypergonadotropic hypogonadis... |
OMIM:227645 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Distal Deletion 6P |
|
Short palm, Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nas... |
ORPHA:96125 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Long no... |
OMIM:257850 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Prominent metopic ridge, Hyperthyroidism, Ventric... |
ORPHA:488632 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the premaxilla, External ear malform... |
ORPHA:2673 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Thrombocytopenia, Jaundice, Abnormal respi... |
ORPHA:90062 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k... |
OMIM:227650 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Diabetes insipidus, Campt... |
ORPHA:391474 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Pa... |
OMIM:277380 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Bulbous nose, Sensorineural hearing impair... |
OMIM:615219 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Otitis media, Atrial septal defect, Conductive hearing impai... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Otitis media, Atrial septal defect, Conductive hearing impai... |
ORPHA:353277 |
Dpagt1-Cdg |
|
Prolonged QT interval, Flexion contracture, Optic atrophy, Stroke-like episode, Intracranial hemo... |
ORPHA:86309 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Atrial se... |
OMIM:619869 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Limited elbow movement, Micrognathia, Emphysema, Dilatation of an abdomi... |
ORPHA:558 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Kyphoscoliosis, Micrognathia, Dilated cardiomyopathy, Cubitus valgus |
OMIM:618348 |
16P13.11 Microdeletion Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Cry... |
ORPHA:261236 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Choanal atresia, Abnormal dental enamel morphology, Decreased re... |
ORPHA:1896 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Congenital dia... |
OMIM:613406 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Mac... |
OMIM:600460 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the muscul... |
ORPHA:1101 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Lymphadenopathy, Anemia, Hypertension, Internal hemorrhage, Thrombocyt... |
ORPHA:69077 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Skeletal muscle hy... |
OMIM:619714 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Fryns Syndrome |
|
Microretrognathia, Ectopic pancreatic tissue, Aganglionic megacolon, Ventricular septal defect, A... |
OMIM:229850 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:373 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Hemiverteb... |
OMIM:261540 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,... |
OMIM:613803 |
Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wav... |
ORPHA:358 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Communicating hydrocephalus, Vertigo, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility |
ORPHA:352723 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Ventricular septal... |
OMIM:117650 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Hearing impairment, Micrognathia, Situs inversu... |
OMIM:309500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, Bradycardia, Pulmonary arteri... |
OMIM:619272 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia,... |
OMIM:616975 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Prominent nose, Atrial septal defect, Low-set, ... |
ORPHA:480880 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Knee flexion contracture, Protruding ear, Atrial septal defect, Diaphra... |
OMIM:614976 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Delayed cranial sutu... |
ORPHA:90349 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand monodactyly, ... |
OMIM:609945 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Aganglionic megacolon, Ventricular septal defect, Unilateral cr... |
OMIM:174300 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Short fourth metatarsa... |
OMIM:619841 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Flexion contracture, Irregular vertebral endplat... |
OMIM:143095 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Ano... |
OMIM:616462 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... |
ORPHA:97285 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Pterygium... |
OMIM:263650 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, S... |
ORPHA:457351 |
Jacobsen Syndrome |
|
Abnormal form of the vertebral bodies, Broad columella, Low-set, posteriorly rotated ears, Death ... |
ORPHA:2308 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Sensorineural hearing impairment, Flexion contracture,... |
ORPHA:544503 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... |
OMIM:611134 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, ... |
OMIM:619991 |
Whim Syndrome |
|
Lymphopenia, Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recur... |
ORPHA:51636 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... |
OMIM:240300 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Orchitis, Recurrent pharyngitis, Abnormal sacroiliac joint morphology, Va... |
ORPHA:32960 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scoliosis, Camptodacty... |
ORPHA:88628 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag... |
OMIM:611773 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Dyspnea, Weight l... |
ORPHA:79430 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Microretrognathia, Decreased testicular size, Ventricular septal defect, W... |
ORPHA:459070 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Diabetes mellitus, Angina pectoris, Splenomegaly, Sensorineural hearing impairment, Vacuolated ly... |
ORPHA:565612 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Eosinophilia, Pneumonia, Abnormality of the endocrine system,... |
ORPHA:228123 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Ventricular septal defect, Posteriorly rotated ear... |
ORPHA:1780 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Conductive hearing... |
OMIM:304120 |
Trichothiodystrophy |
|
Joint dislocation, Multiple joint contractures, Protruding ear, Thoracic kyphosis, Neutropenia, P... |
ORPHA:33364 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Spin... |
ORPHA:1393 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Atrial septal ... |
OMIM:615873 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Sensorineural hearing impairment, Wide na... |
ORPHA:250989 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Ventricular septal defect, Bilateral crypto... |
ORPHA:434179 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Aspiration, Cardio... |
ORPHA:2131 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, Atrial septal defect, Pa... |
ORPHA:466791 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Posteriorly rotated ears, Spina bifida, Broad nasal tip, Cyst of the ductus choledoc... |
OMIM:619480 |
Rin2 Syndrome |
|
Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Scoliosis, Umbilical hernia, Brui... |
ORPHA:217335 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Depressed nasal bridge, Camptodactyly of finger, Posteriorly rotated... |
ORPHA:994 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Kyphoscoliosis, Prominent nose, Flat acetabular roof, Abnormal mandible condyl... |
ORPHA:2976 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Ventricular septal defect, Broad nasal tip, Micrognathia, Pancreatic lymphan... |
ORPHA:1655 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Hepatosp... |
OMIM:267010 |
Meester-Loeys Syndrome |
|
Joint dislocation, Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, D... |
OMIM:300989 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependent diabetes mel... |
ORPHA:96191 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, Dyspnea, Abnormality of t... |
ORPHA:3015 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Abnormal heart valve morphol... |
ORPHA:280 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... |
OMIM:119600 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... |
OMIM:101600 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Shor... |
OMIM:614207 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Delayed closure of the a... |
OMIM:618460 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bulbous nose, Dental malocclus... |
OMIM:606232 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Concave nasal ridge, Atrial septal de... |
OMIM:602482 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Depressed nasal bridge, Ventricular septal defect, Sensorineura... |
OMIM:619575 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia, Abnormal antihelix morphology, Platyspondyly, Thorac... |
ORPHA:85194 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Encephalocele, Rhizomelia, Prominent nose, Cryptorchidism, Patent... |
OMIM:616300 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Hypoplastic facial bones, Short clavicles, Con... |
OMIM:619793 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pulmonary artery sli... |
OMIM:235730 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares,... |
OMIM:617180 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Ventricula... |
OMIM:301044 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Scoliosis |
OMIM:617635 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Conductive hearing impairment, Atrial sep... |
OMIM:136140 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Erythema, Depressed nasal ridg... |
ORPHA:3474 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopath... |
ORPHA:101096 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Shortened PR interv... |
OMIM:614947 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Atrial septal defect, Hashimoto thyro... |
ORPHA:881 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Splenomegaly, Hydrocephalus, Genu valgum, Short ribs |
OMIM:615630 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Anotia, Microtia, third degree, Ap... |
ORPHA:2554 |
Van Den Ende-Gupta Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Knee flexion contracture, Protruding ear, Camptodactyly ... |
OMIM:600920 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Facial hypotonia, Micrognathia |
OMIM:614526 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Cardiac myxoma, Schw... |
OMIM:160980 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Simple ear, ... |
OMIM:618733 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response... |
OMIM:245590 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Convex nasal ridge |
ORPHA:1540 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Thoracic scoliosis, Short femur, Rhizomelia, Micromelia, Micrognathia, Recu... |
OMIM:613848 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Asthma, Hypereosinophilia, Abnormal aortic arch morphology, Ascending t... |
ORPHA:449400 |
Trisomy 18 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Ventricular septal defect, Choanal atresia,... |
ORPHA:3380 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Poor wound healing, Mitral valve prolapse, ... |
OMIM:606408 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Cryptorchidism,... |
ORPHA:191 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Right atrial enlargement, Umbilical hernia, Pulmonic stenosis, Pulmo... |
OMIM:616028 |
Cleft Velum |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media, Aspiration pneu... |
ORPHA:99772 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears |
OMIM:167730 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Neurooculorenal Syndrome |
|
Subglottic stenosis, Mixed hearing impairment, Decreased circulating cortisol level, Ectopic post... |
OMIM:620305 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Prominent nasal bridge, Ankle... |
ORPHA:464311 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Mohr Syndrome |
|
Short palm, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia, Bif... |
OMIM:252100 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Redundant skin, Osteoarthritis, Protruding ear, In... |
ORPHA:286 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Flexion contracture, Irregular vertebral endplates, Atrial s... |
OMIM:271640 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Micrognathia, Flexion contracture,... |
OMIM:154700 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Tarsal synostosis, Cryptorchidism, Patent ductu... |
ORPHA:2473 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Posteriorly rotated ears, Carious teeth, Sm... |
OMIM:619229 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Prominent nose, Wide nasal bridge, Short distal phalanx of toe,... |
ORPHA:1292 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Cupped ear, Microtia, Low-set ears, Overfolded helix |
OMIM:609654 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis... |
ORPHA:560 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Anteverted nares, Thrombocytopenia, Bulbous nose, Short... |
ORPHA:261323 |
Bangstad Syndrome |
|
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, C... |
OMIM:210740 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... |
OMIM:265000 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Ecto... |
OMIM:225500 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Skeletal muscle hypertrophy,... |
OMIM:617164 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kypho... |
OMIM:183900 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synostosis, Multiple pterygi... |
OMIM:178110 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... |
OMIM:617666 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Anteverted nares, Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:613124 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary h... |
OMIM:602088 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Cryptorchidism, Pat... |
OMIM:227646 |
Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Ventricular septal defect, Hydrocephalus, Flexion co... |
OMIM:147800 |
Retinoblastoma |
|
Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Pineoblastoma, Leiomyosarcom... |
ORPHA:790 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Bulbous... |
OMIM:619103 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Kury-Isidor Syndrome |
|
Anteverted nares, Ventricular septal defect, Low-set ears, Scoliosis, Recurrent otitis media |
OMIM:619762 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia, Abnormality of the ova... |
ORPHA:2975 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p... |
OMIM:113650 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Anteverted nares, Prominent nose, Patent ductus arteriosus, Ach... |
OMIM:618076 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Upper limb undergrowth, Protr... |
ORPHA:96201 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent... |
OMIM:300868 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Abnormality of the knee, Wide nose, Lumbar hyperlordosis, Ventricular ... |
ORPHA:251028 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Ventricular septal defect, ... |
ORPHA:464306 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Microcytic anemia,... |
OMIM:619525 |
Distal Deletion 12Q |
|
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Mat... |
ORPHA:96149 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Thoracolumbar kyphoscol... |
OMIM:212066 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Supernumerary nipple, Underdeveloped nasal alae, Hypoplasia of the maxill... |
OMIM:129400 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Aqueductal stenosis,... |
ORPHA:93259 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Anteverted nares, Depressed nasal bridge, Aplastic clavicle, Micro... |
ORPHA:50945 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Polycystic ovaries, Short columella... |
ORPHA:1770 |
Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Anteverted nares,... |
OMIM:209885 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Natal tooth, Occipital encephalocele, Camptodactyly of finger, Adrenal hypoplas... |
OMIM:249000 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Joint dislocation, Striae distensae, Cardiac arrest, Craniosynostosis, Arteria... |
ORPHA:60030 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Proboscis, ... |
ORPHA:141099 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... |
ORPHA:86839 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Early onset of sexual matu... |
OMIM:194050 |
Trichinellosis |
|
Facial palsy, Trismus, Vertigo, Retinal hemorrhage, Central retinal artery occlusion, Tinnitus |
ORPHA:863 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... |
ORPHA:91347 |
Isolated Cleft Lip |
|
Situs inversus totalis, Abnormal Eustachian tube morphology, Supernumerary maxillary incisor, Con... |
ORPHA:199302 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Micrognathia, Abnormality of the elbo... |
ORPHA:1486 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Genu recurvatum, Redundant skin, Protruding ear, Emphysema, Prematurely aged... |
ORPHA:90348 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Micromelia, Absent thumb, Humeror... |
OMIM:251230 |
Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma... |
OMIM:612731 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Scoliosis, Low-set ears, Hyp... |
OMIM:618653 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Ventricular septal defect, Craniosynostosis, Underdeveloped nasal alae, Microgn... |
OMIM:250410 |
Choanal Atresia |
|
Subglottic stenosis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Craniosyno... |
ORPHA:137914 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bleeding, ... |
ORPHA:167 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Anterio... |
OMIM:206900 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Recurrent respiratory infections, Diabetes mellitus, Telangiectasia of ... |
ORPHA:1775 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... |
OMIM:274300 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thenar muscle atrophy, Flexion contracture, Platyspondyly, Short femoral neck, Bruising susceptib... |
ORPHA:157965 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelination, Dyspnea,... |
ORPHA:255210 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Patent ductus arteriosus, Breast apl... |
ORPHA:276413 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Thyroiditis, ... |
ORPHA:83471 |
Ivic Syndrome |
|
Limited elbow movement, Pectoralis major hypoplasia, Hypoplasia of the ulna, Short thumb, Patent ... |
OMIM:147750 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... |
ORPHA:1546 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Paradoxical increased cortisol... |
ORPHA:189427 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Cardiores... |
ORPHA:31824 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Jaundice, Increased body weight, Weight loss, Anemia, Failure to ... |
ORPHA:905 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Flexion contracture, Generalized limb muscle atrophy, Ankle clonus, Aortic root aneurysm, Type II... |
OMIM:618891 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Pulmonary hypoplasia, Neona... |
OMIM:253310 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... |
OMIM:139090 |
Axenfeld-Rieger Syndrome |
|
Depressed nasal bridge, Redundant skin, Hypoplasia of the maxilla, Wide nasal bridge, Abnormality... |
ORPHA:782 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Recurrent respiratory infections, Premature pubarche, Precocious puberty, Ky... |
ORPHA:398069 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange... |
OMIM:616202 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Atrial septal defect, Spina bifida occulta, Dislocated radial he... |
OMIM:135900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ear, Short tibia, Microretrog... |
OMIM:268305 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... |
OMIM:274150 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Dental mal... |
ORPHA:199306 |
Pendred Syndrome |
|
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of ... |
ORPHA:705 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure, Progressive h... |
OMIM:620166 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Kyphoscoliosis, Supernumerary nipple, Leukocytosis, Eryt... |
OMIM:308300 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Recurrent pneumonia, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Cardiorespirato... |
ORPHA:93296 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Prolonged bleeding time, Rhizomelia, Conductive hearing impairment, Platyspond... |
OMIM:616229 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Congenital diaphragmatic hernia, Micromelia, Aplastic clavicle, Hydroceph... |
OMIM:616546 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Conductive hearing impairment, Atrial septal defect,... |
ORPHA:821 |
Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Posteriorly rotated ea... |
OMIM:608156 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Anteverted nares, Facial hypotonia, Underdeveloped nasal alae, Broad nasal ... |
ORPHA:438216 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Laryngeal stenosis, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothora... |
ORPHA:79404 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Depressed nasal ridge, Conductive hearing impairment, Hypothyroidism, ... |
ORPHA:1606 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Abnorm... |
ORPHA:744 |
Atelosteogenesis Type I |
|
Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Laryngotracheal ste... |
ORPHA:1190 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Spl... |
OMIM:181000 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Laryngeal stenosis, Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Abnorma... |
OMIM:219000 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... |
ORPHA:2399 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Hypertensio... |
OMIM:615830 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Death in infancy, Depressed nasal b... |
OMIM:259775 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Congestiv... |
ORPHA:31826 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Limb Body Wall Complex |
|
Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs, Ventricular septal defect, ... |
ORPHA:2369 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Cranial nerve compression, Pitu... |
ORPHA:652 |
Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Multiple joint contractures, Prominent nose, Elevate... |
ORPHA:79318 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
Plague |
|
Abnormal bleeding, Respiratory distress, Tachycardia, Hematemesis, Lymphadenitis, Splenomegaly, A... |
ORPHA:707 |
Gaucher Disease, Type Ii |
|
Death in infancy, Double aortic arch, Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Co... |
OMIM:230900 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fib... |
ORPHA:2141 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Disproportionate shorten... |
OMIM:263520 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Posteriorly rotated... |
OMIM:300000 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Accessory spleen, Multiple pulmonary cysts, Depressed nasal bridge, Ventricula... |
OMIM:619418 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... |
ORPHA:3044 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Neonatal respiratory distress, Micrognathia, Type 1 muscle ... |
OMIM:619036 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the maxilla, Wide anterior fo... |
OMIM:620099 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Hearing impairment, Micrognathia, Kyphosis, Cryptorc... |
ORPHA:1724 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Wide nose, Ventricular septal defect, Anteverted nares, Increased mean plat... |
OMIM:222470 |
Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Retinal hemorrhage |
OMIM:180000 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Abnormality of the temporomandibular joint, Abnormality of the... |
ORPHA:93958 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Hypoplastic scapulae, Congenital diaph... |
ORPHA:958 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Congenital ... |
OMIM:614294 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia |
OMIM:601709 |
Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... |
ORPHA:91359 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ... |
OMIM:203500 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Depressed nasal bridge, Ventricular septal defect, Low-set ears |
OMIM:618325 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Wide nose, Aplasia of the thymus, Schwannoma, Hypochromic micr... |
ORPHA:96123 |
Atelosteogenesis Type Ii |
|
Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Hypoplastic cervical vertebrae, ... |
ORPHA:56304 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C... |
OMIM:601803 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Cryptorchidi... |
OMIM:613805 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Respiratory distress, Neutrop... |
ORPHA:79139 |
Renal Agenesis |
|
Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Microg... |
ORPHA:2461 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Microgn... |
OMIM:300990 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Depressed nasal bridge, Ventricular septal defect, Pulmonary hypoplasia, Ace... |
OMIM:615503 |
Central Retinal Vein Occlusion |
|
Papilledema, Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Acute infantile spinal m... |
OMIM:271225 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Vertigo, Calf muscle hypertrophy, Scoliosis |
ORPHA:37612 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Posteriorly rotate... |
OMIM:211380 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Micrognathia, Anteverted ears, Cryptorchidism, B... |
OMIM:613884 |
Platyspondylic Dysplasia, Torrance Type |
|
Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carpal morphology, Short foot,... |
ORPHA:85166 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic m... |
ORPHA:2396 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Umbilical hernia, Dry skin, Hypothyroidism, Goiter |
OMIM:274400 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Abnormal pinna morphology, Micrognathia, Complete at... |
OMIM:236680 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Pulmonary hypopl... |
OMIM:601163 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Splenomegaly, Bulbous nose, Patent ductus arteriosus, Hip dislocation,... |
OMIM:618268 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Hemophilia A |
|
Osteoarthritis, Muscle hemorrhage, Bruising susceptibility, Joint hemorrhage, Persistent bleeding... |
OMIM:306700 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Decreased muscle mass, Congenital ... |
ORPHA:2834 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Micrognathia, Micromelia, Trismus, Macrotia, Flexion contr... |
ORPHA:2671 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Autoimmune hemolytic anemia, Hyperthyroid... |
ORPHA:37042 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Prominent nasal bridge, L... |
ORPHA:221120 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Antever... |
OMIM:615273 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter, Thrombocytopenia, Abnormality of the musculat... |
ORPHA:3327 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineural hearin... |
ORPHA:79241 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Short hallux, Aqueductal stenosis,... |
ORPHA:93260 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Abnormal facial skeleton morphology, Nasal congestion, Ovari... |
ORPHA:562 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Ventricular se... |
OMIM:606170 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Miscarriage, Ventricular septal defect, Short ... |
ORPHA:2438 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Tricuspid regurgitation, Depressed nasal bridge, Elevated hemoglobin ... |
OMIM:619127 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Respiratory distress, Neonatal respira... |
OMIM:260400 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Micromelia, Trismus, Asthma, Flexion contra... |
ORPHA:3206 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anteverted nares, Optic atrophy, Wide nasal bridge, Skin ulcer, Protruding ear, Pleura... |
ORPHA:2526 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Microg... |
OMIM:216340 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Truncus arteriosus, Abnormality of the spleen, Abnormal lung lobati... |
ORPHA:2538 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Delayed cranial suture closure, Hypoplasia of the maxilla, Long nose, Pr... |
OMIM:101400 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... |
OMIM:214500 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Bruising susceptibility |
ORPHA:75497 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Protruding ear, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypot... |
ORPHA:268261 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Micrognathia, Protruding ear, Chronic otitis media, L... |
ORPHA:534 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Pulmon... |
OMIM:607721 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Wormian bones, Depressed nasal bridge, Anteverted nares, Metopic... |
OMIM:269150 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short metacarpal, Depressed nasal bridge, Posteriorly rotated ears, Redundant s... |
OMIM:250220 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Sensorineural hearing impairment, Thrombocytopenia, Goiter |
OMIM:274240 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,... |
OMIM:614076 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Retrognathia, Pulmonary hypoplasia, Low-set ears |
OMIM:191830 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Small abnormally formed scapulae, Hydrocephalus, Platyspondyly, Pu... |
OMIM:187600 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Prominent metopic ridge, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated e... |
OMIM:608670 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Conductive hearing im... |
OMIM:194190 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis, Goiter |
OMIM:617175 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Atrial septal defect, Small earlobe, Anteverted nares, Cryptorchidism, Patent ductus a... |
OMIM:619522 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter |
OMIM:188580 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Respiratory distress, Micromelia, Abnormal circulating calc... |
ORPHA:50810 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormality of the wrist, Cryptorchidism, Apl... |
ORPHA:3138 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect, Flexion contracture, Wide nasal bridge, Depressed na... |
OMIM:619306 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Sensorineural hearing impairment, Dy... |
OMIM:615636 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Pall... |
ORPHA:653 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Scoliosis |
OMIM:105830 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposit... |
OMIM:313850 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibr... |
ORPHA:79259 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... |
OMIM:300952 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Brittle Cornea Syndrome |
|
Sensorineural hearing impairment, Mitral valve prolapse, Scoliosis, Pulmonic stenosis, Conductive... |
ORPHA:90354 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Po... |
OMIM:616835 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Wide nose, Depressed nasal bridge,... |
OMIM:614188 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Redundant skin, Congenital diaphragmatic hernia, Vascular tortu... |
OMIM:219100 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Lethal Congenital Contracture Syndrome 9 |
|
Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, Wrist flexion co... |
OMIM:616503 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Abnormality of the vertebral spinous processes, Mixed he... |
ORPHA:1299 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Protruding ear, Otitis media, Anteverted nares, Wide nasal bridge, Bilater... |
OMIM:619475 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, C... |
ORPHA:3412 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Prominent superficial veins, Poor wound healing, Gingival bleeding, Scoliosis,... |
OMIM:130080 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Aganglionic megacolon, Perianal erythema, Cryptorchidism, Recurrent upper respi... |
OMIM:308205 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising suscept... |
OMIM:614074 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Optic atrophy, Bronchiectasis, Interstitial emphysema, Knee flexion contr... |
OMIM:619708 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Skeletal muscle atrophy, Chronic axonal neurop... |
ORPHA:95428 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev... |
ORPHA:250999 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Aqueductal stenosis, Splenomegaly, Pulmonary hypopla... |
ORPHA:3035 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasi... |
OMIM:305100 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Apnea, Micrognathia, Conductive hearing impairment, Adactyly, Talon cusp, Central re... |
ORPHA:2751 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyro... |
OMIM:180295 |
Bent Bone Dysplasia Syndrome 2 |
|
Depressed nasal bridge, Short tibia, Hypoplastic acetabulae, Coronal cleft vertebrae, Platyspondy... |
OMIM:620076 |
Teebi-Shaltout Syndrome |
|
Small earlobe, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, Wide nasal ... |
OMIM:272950 |
Ascher Syndrome |
|
Wide nose, Hypothyroidism, Goiter |
ORPHA:1253 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Conductive hearing impairment, Atrial ... |
ORPHA:199 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Condu... |
ORPHA:2753 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Decreased response to grow... |
ORPHA:64 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia,... |
ORPHA:3404 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Obesity, Dry skin, Bruising susceptibility, Hypothyroidism |
ORPHA:36397 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis, Atrial septal d... |
ORPHA:522077 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Maternal diabetes, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the... |
ORPHA:3027 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal diabetes, Cryptorchidism... |
ORPHA:49 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Bruising susceptibility |
OMIM:619172 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Wide nasal bridge, Low-set ears, Camptodactyly of to... |
ORPHA:251038 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Recurrent pneumonia, A... |
OMIM:225400 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... |
OMIM:200600 |
Hermansky-Pudlak Syndrome 8 |
|
Optic disc pallor, Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival blee... |
OMIM:614077 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency |
OMIM:619120 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Abnormal nasopharynx morphology, Absence of Stensen duct, Choan... |
OMIM:129900 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Breast aplasia, Cough, Dry skin |
ORPHA:238468 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Ventricular septal defect, Choanal atresia, Cryptorchidism, ... |
OMIM:107480 |
Adnp Syndrome |
|
Respiratory distress, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract i... |
ORPHA:404448 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... |
OMIM:619351 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Pheochromocytoma, Elevated ci... |
ORPHA:1332 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Abnor... |
ORPHA:139417 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... |
ORPHA:1071 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Bilateral cryptorchidism, Asthma, Atrial septal defect, Male hypogonadism |
OMIM:619471 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Joint swelling, Pulmo... |
OMIM:612852 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Ear pain, Respiratory distress |
ORPHA:2309 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Redundant skin, Capi... |
OMIM:304150 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Respiratory tract infection, Dental malocclusion, Narrow jaw, Respiratory ... |
OMIM:618975 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Micr... |
ORPHA:731 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia, Cupped ear, Protruding ear |
ORPHA:93947 |
Vater/Vacterl Association |
|
Laryngeal stenosis, Abnormal nasopharynx morphology, Occipital encephalocele, Ventricular septal ... |
OMIM:192350 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... |
ORPHA:141083 |
Craniotubular Dysplasia, Ikegawa Type |
|
Anteverted nares, Ventricular septal defect, Optic neuropathy, Optic atrophy, Wide nasal bridge, ... |
OMIM:619727 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Hearing impairment, Broad nasal tip, Congenital diaphragmatic hernia, ... |
OMIM:618846 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Cryptorchidism, Genu valgum, Microtia |
OMIM:617798 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
Spondyloocular Syndrome |
|
Posteriorly rotated ears, Unilateral cryptorchidism, Sensorineural hearing impairment, Mitral val... |
OMIM:605822 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Bruising susceptibility, Bleeding requiring red cell transfusion |
OMIM:619484 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor |
ORPHA:100050 |
Rift Valley Fever |
|
Abnormal bleeding, Miscarriage, Hematemesis, Thrombocytopenia, Vertigo, Jaundice, Retinal hemorrh... |
ORPHA:319251 |
Perlman Syndrome |
|
Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Hypoplasia... |
OMIM:267000 |
Ulnar-Mammary Syndrome |
|
Subglottic stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3... |
OMIM:181450 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Absent nipple, Posteriorly rotated ears, Hypoplastic scapulae, Kyphoscoli... |
OMIM:200980 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Posteriorly rotated ears, Decreased response to growth hormone stim... |
ORPHA:506358 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Optic nerve hypoplasia, Posteriorly rotated ear... |
OMIM:620330 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Pulmonary hypoplasia, Diffuse axonal swelling, Arthr... |
ORPHA:86822 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Anteverted nares, Optic nerve hypoplasia, Facial hypotonia, Hydrocephalu... |
ORPHA:457284 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Renal tubular epithelial necrosis, Vitreous hemorrhage, Normochro... |
ORPHA:91500 |
Rodrigues Blindness |
|
Narrow nasal bridge, Ectodermal dysplasia, Nasal flaring, Protruding ear |
OMIM:268320 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Scoliosis, Knee flexion contracture |
OMIM:118650 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Increased T cell count, Abnormal lung morphology, ... |
ORPHA:797 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Respiratory dist... |
OMIM:256810 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Posteriorly rotated ears, Camptodactyly of finger, Elbow ... |
OMIM:208150 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Elevated c... |
OMIM:162300 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Portal hypertension, Underdeveloped nasal alae, Sit... |
OMIM:243800 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, External ear malformation, Hypothyroidism, Patent ductus art... |
ORPHA:857 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Impaired oxidativ... |
OMIM:306400 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis |
ORPHA:98805 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Hypoplastic sacrum, Absence of Stensen duct, Choanal atresia, De... |
OMIM:604292 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Decreased response to growth hormone stimulation test... |
ORPHA:96179 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Recurrent respiratory infections, Hypoplasia of the ulna, Pancreatic fibrosis, ... |
OMIM:208500 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Coarctation of aorta, Vascular ring, Double aortic arch, Hearing impairment |
OMIM:616954 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Pulmonary hypopla... |
OMIM:263200 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones, Bruising s... |
OMIM:617821 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Wide nasal bridge, Hypertension, Atrial septal defect, Enamel hypoplasia |
OMIM:300896 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, Sensorineural he... |
ORPHA:466943 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture... |
OMIM:259050 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Widely patent fontanelles and sutures |
OMIM:267430 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, Poor wound healin... |
OMIM:618175 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Abnormal lung lobation, Vertebral segmen... |
ORPHA:2052 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Neuropathic arthropathy, Dry skin, Anemia, ... |
ORPHA:642 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Sensorineural hearing impairment, Protruding ea... |
OMIM:617107 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Occipital Horn Syndrome |
|
Delayed cranial suture closure, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Venous insu... |
ORPHA:198 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis, Micromelia, Pulmonary hypoplasi... |
OMIM:200995 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Kyphosis, Abnormality of the thyroid g... |
ORPHA:201 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... |
ORPHA:2470 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Asplenia, Hydrocephalus, Single n... |
OMIM:273395 |
Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Bruising susceptibility, Hearing impairment |
OMIM:614170 |
Sympathetic Ophthalmia |
|
Papilledema, Erythema, Retinal hemorrhage, Tinnitus, Hearing impairment |
ORPHA:79098 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Micromelia, Flat acetabular roof, Short ribs, Pulmonary hypoplasia, Mesomel... |
OMIM:614091 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m... |
OMIM:112250 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukemia, Pinealoma |
OMIM:180200 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Congestive heart failure, Jaundice, Death in infancy |
OMIM:617156 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Aplasia of the thymus |
ORPHA:3004 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Narrow nasal tip, Supernumerary nipple, Cryptorchidism, Short thumb, Wide nasal... |
ORPHA:477993 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Prominent ... |
OMIM:614748 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple... |
OMIM:620189 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Supernumerary tooth, Pituitary adeno... |
ORPHA:733 |
Diphallia |
|
Ureteral duplication, Hypospadias, Distal urethral duplication, Epispadias, Penoscrotal transposi... |
ORPHA:227 |
Yellow Fever |
|
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Excessive bleeding after a v... |
ORPHA:99829 |
Chand Syndrome |
|
Atelectasis, Hydroureter, Dry skin |
ORPHA:1401 |
Early Infantile Epileptic Encephalopathy |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Precocious puberty, Short fi... |
ORPHA:1934 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Bilobed right lung, Anencephaly, Bile... |
OMIM:612284 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Aganglionic megacolon, Bicuspid aortic valve, Kyphoscoliosis, Abnormal pinn... |
OMIM:309800 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Neuroocular Syndrome |
|
Scapular winging, Genu recurvatum, Unilateral deafness, Cupped ear, Anterior creases of earlobe, ... |
OMIM:619539 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
Sillence Syndrome |
|
Aplasia of the middle phalanx of the hand, Flat acetabular roof, Platyspondyly, Short middle phal... |
ORPHA:3168 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... |
OMIM:259770 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Dry skin, Multinodular goiter, Scaling skin |
OMIM:618373 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve... |
ORPHA:93311 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Hypoplasia of the od... |
OMIM:300106 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypo... |
ORPHA:95712 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage, Skeletal muscle atrophy, Death in childhood |
OMIM:609049 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, A... |
ORPHA:79078 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, ... |
OMIM:271520 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Elbow dislocation, Patent ductus arteriosus, Hemivertebrae, Aplasia/Hypoplasia of the phalanges o... |
ORPHA:1112 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goiter, Ovaria... |
ORPHA:276399 |
Renal Agenesis, Bilateral |
|
Depressed nasal ridge, Pulmonary hypoplasia, Low-set ears, Sirenomelia |
ORPHA:1848 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Cryptorchidism, Respiratory insuffic... |
ORPHA:93271 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla, Wide nasal bridge, Decreased response to growth hormone stimulation test |
OMIM:180500 |
Cowden Syndrome 7 |
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Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Mckusick-Kaufman Syndrome |
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Cryptorchidism, Congenital hip dislocation, Aganglionic megacolon, Pulmonary hypoplasia |
OMIM:236700 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
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Congenital bilateral hip dislocation, Cryptorchidism |
ORPHA:404451 |
Synpolydactyly 2 |
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Carpal synostosis, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis |
OMIM:608180 |