Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
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 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micrognathia, Cyanosis,... |
ORPHA:3304 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Microretrognathia, Secund... |
OMIM:616866 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Low-set ears, Flared nostrils, Dilated cardiomyopathy, Retrognathia, Premature graying of hair, M... |
ORPHA:280679 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
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 |
|
Low-set ears, Small hand, Elevated circulating luteinizing hormone level, Premature graying of ha... |
OMIM:300845 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Carious teeth, Natal tooth, Atresia of the external auditory canal, Bilateral condu... |
OMIM:620186 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... |
ORPHA:1329 |
Sneddon Syndrome |
|
Livedo, Lymphopenia, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Bicuspid aortic v... |
OMIM:182410 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Anteverted nares, Abnormal ... |
ORPHA:2412 |
Primary Pulmonary Hypoplasia |
|
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemid... |
ORPHA:2257 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Acute Promyelocytic Leukemia |
|
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... |
ORPHA:520 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
Agnathia-Otocephaly Complex |
|
Low-set ears, Secundum atrial septal defect, Conductive hearing impairment, Respiratory distress,... |
OMIM:202650 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Bulbous nose,... |
ORPHA:3047 |
Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog... |
OMIM:179613 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Monosomy 18Q |
|
Aortic valve stenosis, Bilateral conductive hearing impairment, Mitral regurgitation, Sensorineur... |
ORPHA:1600 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Hypoplastic scapulae, Hearing impairment, Micrognathia, Single ventricle, Thyroid hypop... |
OMIM:308050 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Abnormal heart morphology, Decreased nerve conduction velocity, Foot dorsiflex... |
ORPHA:477817 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Low-set ears, Bifid nasal tip, Broad nasal tip, Secundum atrial septal defect, Retrognathia, Umbi... |
OMIM:619758 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Cholelithiasis, Prominent nose, Prominence of the premaxilla, Double outlet ri... |
OMIM:614886 |
Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... |
ORPHA:36382 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Ear pain, Sync... |
ORPHA:221098 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... |
ORPHA:853 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Pleural effusion, Petechiae, Bradycardia, Abnormal renal corticome... |
OMIM:617397 |
Long-Olsen-Distelmaier Syndrome |
|
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, De... |
OMIM:620609 |
Pseudo-Torch Syndrome 1 |
|
Low-set ears, Microretrognathia, Umbilical hernia, Anteverted nares, Petechiae, Patent foramen ov... |
OMIM:251290 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Low-set ears, Short 5th finger, Secundum atrial septal defect, Short 2nd finger, Ventricular sept... |
OMIM:600987 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Conductive hearing impairment, Short toe, Short 5th metacarpal, 11 pairs of ribs, A... |
OMIM:617877 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Low-set ears, Depressed nasal bridge, Secundum atrial septal defect, Dilation of Virchow-Robin sp... |
OMIM:619951 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Primary Myelofibrosis |
|
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... |
ORPHA:824 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Dental malocclusion, Retrognathia, Hearing impairment, Abnormal heart morphology, ... |
ORPHA:363444 |
Marshall-Smith Syndrome |
|
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... |
OMIM:602535 |
Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Increased variability in muscle fiber diameter, Micrognathia, Ventricular septal de... |
OMIM:617022 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... |
OMIM:314050 |
Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Limb hyper... |
OMIM:619909 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... |
OMIM:620296 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Gaucher Disease, Perinatal Lethal |
|
Low-set ears, Depressed nasal bridge, Pulmonary hypoplasia, Retrognathia, Respiratory distress, H... |
OMIM:608013 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Depressed nasal bridge, Tetralogy of... |
OMIM:220210 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Recurrent otitis media, Dry skin, Hep... |
OMIM:619503 |
Congenital Sialidosis Type 2 |
|
Low-set ears, Optic atrophy, Hearing impairment, Cherry red spot of the macula, Abnormal heart mo... |
ORPHA:93400 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Hyperplasia of the maxilla, Prominent nose, Micrognathia, Recurren... |
OMIM:620194 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
Ogden Syndrome |
|
Low-set ears, Flared nostrils, Facial wrinkling, Torsade de pointes, Recurrent otitis media, Dela... |
OMIM:300855 |
Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Chronic noninfectious lymphadenopathy, Petech... |
OMIM:603909 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Cupped ear, Third degree atrioventricular block, Atrioventricular canal... |
ORPHA:40366 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
Prolidase Deficiency |
|
Recurrent pneumonia, Skin ulcer, Failure to thrive, Petechiae, Splenomegaly, Diffuse telangiectas... |
OMIM:170100 |
Snijders Blok-Campeau Syndrome |
|
Low-set ears, Wide nasal bridge, Umbilical hernia, Prominent nose, Taurodontia, Perimembranous ve... |
OMIM:618205 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Low-set ears, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ductus arte... |
OMIM:618316 |
Birk-Aharoni Syndrome |
|
Hearing impairment, Long nasal bridge, Muscular ventricular septal defect, Micrognathia, Cryptorc... |
OMIM:620071 |
Congenital Gerbode Defect |
|
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... |
ORPHA:99095 |
Congenital Syphilis |
|
Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly,... |
ORPHA:499009 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... |
ORPHA:1110 |
Chromosome 9P Deletion Syndrome |
|
Low-set ears, Choanal atresia, Wide nasal bridge, Depressed nasal bridge, Prominent antihelix, Re... |
OMIM:158170 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal form of the vertebral bodies, Pan... |
ORPHA:464329 |
Sotos Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Enlarged na... |
OMIM:117550 |
Periventricular Nodular Heterotopia 1 |
|
Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:300049 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Depressed nasal bridge, Pulmonary artery atresia, Aplasia/Hypoplasia of t... |
ORPHA:3426 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... |
ORPHA:94080 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Abnormal lung lobation, Low-set, posteriorly rotated ears, Umbilica... |
ORPHA:2166 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecch... |
OMIM:620514 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
Diamond-Blackfan Anemia 7 |
|
Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Hearing impairment, At... |
OMIM:612562 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... |
ORPHA:1354 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Sensorineura... |
OMIM:612541 |
Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia... |
ORPHA:906 |
Mirage Syndrome |
|
Microphallus, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal i... |
OMIM:617053 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... |
OMIM:617021 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Low-set ears, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great art... |
OMIM:619910 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Poor wound healing, Prolonged bleeding after dental extraction, Abnormal umbil... |
ORPHA:331 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal peripheral nervous system morphology, Hematochezia, Gastrointestinal hemorrhage, Diffuse... |
ORPHA:464321 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Tachypnea, Singl... |
ORPHA:3384 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Low-set ears, Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Prominent nose, Wi... |
OMIM:618665 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... |
OMIM:619170 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Secundum atrial septal defect, Retrognathia, Skeletal muscle atrophy, Congestive he... |
OMIM:608779 |
Fucosidosis |
|
Low-set ears, Hearing impairment, Cherry red spot of the macula, Dry skin, Angiokeratoma, Beaking... |
OMIM:230000 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased body weight, Hematuria, Pulmonary edema, Glomerulonephritis, Tu... |
ORPHA:340 |
Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... |
OMIM:616216 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Stage 5 chronic kidney disease, Abnormal B cell count, Hydronephrosis, Glo... |
OMIM:613496 |
Sandestig-Stefanova Syndrome |
|
Low-set ears, Wide nasal bridge, Retrognathia, Muscular ventricular septal defect, Underdeveloped... |
OMIM:618804 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge, Carious teeth, Multiple muscular ventricular septal defects, Micrognathia, Dea... |
OMIM:620070 |
Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Acute kidney inj... |
ORPHA:449285 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Sensorineural hearing impairment, Coarcta... |
OMIM:614300 |
Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... |
ORPHA:903 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital dia... |
OMIM:614437 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... |
OMIM:619371 |
Treacher-Collins Syndrome |
|
Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hyp... |
ORPHA:861 |
Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale... |
OMIM:620642 |
Frank-Ter Haar Syndrome |
|
Low-set ears, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular se... |
OMIM:249420 |
Evans Syndrome |
|
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Syncope, Neut... |
ORPHA:1959 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Micrognathia, Myopathy, Type 1 fibers relatively sm... |
OMIM:300580 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
Primary Ciliary Dyskinesia |
|
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chr... |
ORPHA:244 |
Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hearing impairment, Optic disc coloboma, Branchial cyst, Micrognat... |
ORPHA:2260 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... |
OMIM:611926 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Low-set ears, Optic atrophy, Secundum atrial septal defect, Anteverted nares, Prominent nasal bri... |
OMIM:608688 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Ventricular septal de... |
OMIM:619534 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Crypto... |
OMIM:618109 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Primum atrial septal defect, Polysplenia, Situs inversus totalis, Partial atrioventricular canal ... |
OMIM:619608 |
Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Micrognathia, Cryptorch... |
ORPHA:79324 |
Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Cutis marmorata... |
ORPHA:91138 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid ... |
ORPHA:91387 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... |
ORPHA:90065 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Decreased circulating T4 concentration, Cryptorchidism, Death in infancy, Neonatal ... |
OMIM:608104 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... |
OMIM:614868 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... |
ORPHA:136 |
Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Complement Component 4A Deficiency |
|
Vasculitis, Cutaneous photosensitivity, Purpura, Glomerulonephritis |
OMIM:614380 |
Dural Sinus Malformation |
|
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... |
ORPHA:97339 |
Pallister-Hall Syndrome |
|
Natal tooth, Atresia of the external auditory canal, Auricular tag, Hypopituitarism, Central adre... |
ORPHA:672 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Anemia, M... |
OMIM:187800 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Thoracic hemivertebrae, Micrognathia, Ventricular septal defect, Bicuspid aor... |
ORPHA:508498 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... |
OMIM:225250 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Retrognathia, Hearing impairment, Large earlobe, Leukopenia, Butterfly vertebrae, C... |
OMIM:301056 |
22Q11.2 Deletion Syndrome |
|
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal... |
ORPHA:567 |
Meningococcal Meningitis |
|
Hypotension, Hearing impairment, Shock, Petechiae, Stroke, Increased circulating procalcitonin co... |
ORPHA:33475 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Sepsis In Premature Infants |
|
Hypotension, Oliguria, Abnormal bleeding, Reversible renal failure, Petechiae, Pallor, Cyanosis, ... |
ORPHA:90051 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Malar flattening, Ventr... |
ORPHA:1388 |
Cutaneous Collagenous Vasculopathy |
|
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... |
ORPHA:280779 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocar... |
OMIM:306955 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cryptorchidism, Tricuspid regurgitation, Bulbous nose, Cerebral hemorrhage, Posteriorly rotated e... |
OMIM:620371 |
Down Syndrome |
|
Type II diabetes mellitus, Acute megakaryocytic leukemia, Ventricular septal defect, Neutrophilia... |
ORPHA:870 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... |
OMIM:620278 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Sensory axonal neuropathy, Hypertrophic cardiomyopathy, Facial dip... |
OMIM:619121 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebr... |
ORPHA:371428 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Low-set ears, Secundum atrial septal defect, Short toe, Cutis marmorata, Mi... |
OMIM:620072 |
Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... |
ORPHA:169805 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... |
OMIM:612840 |
Hatipoglu Immunodeficiency Syndrome |
|
Poor wound healing, Failure to thrive, Premature graying of hair, Dry skin, Pancytopenia, Petechi... |
OMIM:620331 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Hyperplasia of the maxilla, Recurrent otitis media, Anteverted nares, Mic... |
OMIM:617616 |
Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Splenomegaly, Hypothyroidism, Thrombocytopenia, ... |
OMIM:225750 |
Carpenter Syndrome 1 |
|
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... |
OMIM:201000 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,... |
OMIM:300280 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... |
ORPHA:274 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Hematuria, Anemia, Thrombocytopenia, Pericardial effusion, Prolonged QTc interval, Per... |
ORPHA:231111 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Apnea, Leukocytosis, Death in infancy, Cardiomegaly, Congenital thrombocytopenia, ... |
OMIM:618886 |
Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Petechiae, Death in infancy, Acrocyanosis, Ethylmalonic aciduria |
OMIM:602473 |
Charge Syndrome |
|
Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Sensorineural... |
OMIM:214800 |
Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... |
OMIM:613235 |
Apert Syndrome |
|
Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu... |
OMIM:101200 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... |
OMIM:300367 |
Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Low-set ears, Poor wound healing, Hearing impairment, Micrognathia, Myopathy, Sensorineural heari... |
ORPHA:536545 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Notched primary central incisor, Low-set ears, Hydrocele testis |
OMIM:620062 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Recurrent respiratory infec... |
ORPHA:3226 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
Boutonneuse Fever |
|
Vasculitis, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Petechiae, Lymphadenopathy... |
ORPHA:83313 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Pulmonary hypoplasia, Retrognathia, Anteverted... |
OMIM:608149 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tac... |
ORPHA:49827 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Skeletal muscle atrophy, Secundum atrial septal defect, Prominent antihel... |
OMIM:615802 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Angin... |
OMIM:177850 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Delayed eruption of permanent teeth, Congenital hypothyroidism, Vertebrobasila... |
ORPHA:521445 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... |
ORPHA:226307 |
Bilateral Polymicrogyria |
|
Low-set ears, Central hypothyroidism, Micrognathia, Facial diplegia, Abnormal glossopharyngeal ne... |
ORPHA:268940 |
Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... |
OMIM:187900 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia |
OMIM:619463 |
Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Patent ductus arte... |
ORPHA:2299 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Hearing impairment, Vertigo, Leukopenia, Abnormal cranial nerve morpholo... |
ORPHA:297 |
Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Phosphoethanolaminuria, Recurrent respiratory infections, Failure to thrive, Ap... |
OMIM:241500 |
Hoxha-Aliu Syndrome |
|
Low-set ears, Abnormal vertebral morphology, Absent fifth metatarsal, Atrial septal defect, Uplif... |
OMIM:620662 |
Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Petechiae, Bruising susceptibility, Mitral valve prolapse |
OMIM:225310 |
Simple Cryoglobulinemia |
|
Cold urticaria, Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Purpura, Vasculitis,... |
ORPHA:91139 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Increased c... |
ORPHA:90674 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Congenit... |
OMIM:615524 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Ventricular septal defect, Tachypnea, Atrial septal defect, Paten... |
ORPHA:79345 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morphology, Apnea, Micro... |
OMIM:214110 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... |
ORPHA:363705 |
Sneddon Syndrome |
|
Nephropathy, Vascular skin abnormality, Arterial stenosis, Cutis marmorata, Intracranial hemorrha... |
ORPHA:820 |
Bleeding Disorder, Platelet-Type, 8 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... |
OMIM:609821 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... |
OMIM:618901 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... |
OMIM:619657 |
Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... |
ORPHA:169802 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... |
ORPHA:99094 |
Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Prolonged bleeding time,... |
OMIM:614201 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Bruising susceptibility, Hemophagocytosis, Petechiae, Splenomegaly, Ecchymosis, Lymphadenopathy, ... |
ORPHA:540 |
Methanol Poisoning |
|
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe... |
ORPHA:31825 |
Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Cryptorchidism, M... |
OMIM:180849 |
Fanconi Anemia, Complementation Group Q |
|
Low-set ears, Bone marrow hypocellularity, Absent thumb, Primum atrial septal defect |
OMIM:615272 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... |
ORPHA:276621 |
Tufted Angioma |
|
Anemia, Purpura, Petechiae, Thrombocytopenia |
ORPHA:1063 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Elbow dislocation, Micrognathia, Atrioventricular dissociati... |
OMIM:142900 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:153670 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Micrognathia, Death in childhood, Vascular dilatation, Wide nasal bridge, Peripheral pulmonary ar... |
OMIM:613177 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... |
OMIM:613426 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Temporomandibular join... |
ORPHA:141152 |
Pancreatic And Cerebellar Agenesis |
|
Low-set ears, Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia, Apnea, Re... |
OMIM:609069 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventri... |
OMIM:613870 |
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
Okamoto Syndrome |
|
Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Wide nasal bridge, Depressed nasa... |
ORPHA:2729 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... |
ORPHA:98878 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
Keutel Syndrome |
|
Optic atrophy, Short distal phalanx of finger, Depressed nasal bridge, Hearing impairment, Underd... |
ORPHA:85202 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... |
OMIM:231200 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pleura morphology, Cutis marmorata, Hematuria, Weight loss, Tubulointerstitial nephritis... |
ORPHA:183 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae, Ethylmalonic aciduria |
ORPHA:51188 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Hand muscle atrophy... |
ORPHA:363958 |
20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Atrial se... |
ORPHA:261295 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Sclerotic vertebral endplates, Petechiae, Splenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
Erythrocytosis, Familial, 1 |
|
Vertigo, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased c... |
OMIM:133100 |
Joubert Syndrome 14 |
|
Low-set ears, Optic atrophy, Prominent nasal bridge, Malar flattening, Encephalocele, Ventricular... |
OMIM:614424 |
Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular... |
ORPHA:66634 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Decreased proportion ... |
OMIM:617241 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... |
OMIM:620300 |
Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:90673 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Abnormal platelet count, Bruising susceptibility, Ecchymosis |
OMIM:614009 |
Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Respiratory di... |
ORPHA:1832 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... |
OMIM:613642 |
Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage, Miscarriage |
ORPHA:98880 |
Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Pyoder... |
ORPHA:49566 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect, Kyphoscoliosis |
ORPHA:96190 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Premature graying of hair, Pancytopenia, Petechiae, Splenomegaly, Lymphadenopat... |
ORPHA:79477 |
Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Patent ductus ... |
ORPHA:3092 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, T... |
ORPHA:1120 |
Frontonasal Dysplasia 1 |
|
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... |
OMIM:136760 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Halperin-Birk Syndrome |
|
Optic atrophy, Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Micrognathia, C... |
OMIM:618651 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... |
ORPHA:1143 |
Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Optic atrophy, Conductive hearing impairment, Aortic dissection, Double ou... |
ORPHA:397 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... |
ORPHA:1166 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... |
ORPHA:99050 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Microphthalmia, Syndromic 9 |
|
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal d... |
OMIM:601186 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Petechiae, Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocytopeni... |
ORPHA:294 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Low-set ears, Elbow dislocation, Dry skin, Micrognathia, Cryptorchidism, Hip contracture, Ventric... |
OMIM:210710 |
Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, Crypto... |
ORPHA:1918 |
Tarp Syndrome |
|
Low-set ears, Optic atrophy, Wide nasal bridge, Prominent antihelix, Subdural hemorrhage, Tetralo... |
OMIM:311900 |
Fetal Trimethadione Syndrome |
|
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Micrognathi... |
ORPHA:1913 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... |
OMIM:132900 |
Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Carpal synostosis, Recurrent otitis media, Mitral regurgitation, Congenital diaphra... |
OMIM:157800 |
Williams Syndrome |
|
Synostosis of joints, Genu valgum, Carious teeth, Micrognathia, Type II diabetes mellitus, Mitral... |
ORPHA:904 |
Lujo Hemorrhagic Fever |
|
Hypotension, Atelectasis, Respiratory distress, Shock, Lymphopenia, Leukopenia, Leukocytosis, Exc... |
ORPHA:319213 |
Catel-Manzke Syndrome |
|
Low-set ears, Joint dislocation, Short toe, Umbilical hernia, Narrow naris, Narrow nose, Microgna... |
OMIM:616145 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Atrial septa... |
OMIM:612474 |
Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Broad nasal tip, Atrial septal defect, Umbilical hernia |
OMIM:618354 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical hernia, Joint disloc... |
OMIM:130000 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble... |
ORPHA:465 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
Osteogenesis Imperfecta |
|
Carious teeth, Aortic root aneurysm, Hearing impairment, Enlarged vertebral pedicles, Micrognathi... |
ORPHA:666 |
3C Syndrome |
|
Aortic valve stenosis, Low-set ears, Micrognathia, Abnormal mitral valve morphology, Ventricular ... |
ORPHA:7 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Mediastinal... |
ORPHA:158029 |
Livedoid Vasculopathy |
|
Poor wound healing, Skin ulcer, Polycythemia, Macular purpura, Graves disease, Cutis marmorata, I... |
ORPHA:542643 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Conge... |
ORPHA:2326 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Optic atrophy, Ankle flexion contracture, Muscular dystrophy, Small hand, Depressed nasal bridge,... |
OMIM:608799 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Cryptorchidism, Ventricular septal defect, Absent frontal sinuses, Sensorineural he... |
OMIM:301040 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Death in childhood, Hypoplasia of the thymus |
OMIM:200900 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:277450 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Leukocytosis, Autoimmune hem... |
OMIM:243150 |
Hemophilia A |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... |
OMIM:306700 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Micrognathia, Scoliosis, Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Right ventricular failure, Atelectasis, Emphysema, Respiratory distres... |
ORPHA:70589 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Normocytic anemia, Leukemi... |
ORPHA:33226 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte ... |
OMIM:300400 |
Lessel-Kreienkamp Syndrome |
|
Hypoplastic helices, Wide nasal bridge, Dental malocclusion, Hearing impairment, Abnormal pattern... |
OMIM:619149 |
Q Fever |
|
Pneumonia, Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Respiratory... |
ORPHA:781 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... |
OMIM:300887 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Nephropathy, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Atresia of the e... |
OMIM:301022 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Micrognathia, Malar fla... |
OMIM:241310 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Elevated jugular ... |
ORPHA:2041 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Progeroid facial appearance, Underdeveloped nasal alae, Dry skin, Anteve... |
OMIM:620370 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Retinal hemorrhage, Neutrophilia, Tachycardia, Jaundice, Purpura... |
ORPHA:99827 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Cryptorchidism... |
ORPHA:401935 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Transudative pleural effusion, Telangiectasia, Abnormality of... |
ORPHA:284227 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Conductive hearing impairment, Sinus tachycardia, Congestive hear... |
ORPHA:29072 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Broad nasal t... |
ORPHA:293939 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Respiratory distress, Peripheral demyelination, Left ventricular hypertrophy,... |
OMIM:616733 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia... |
OMIM:249270 |
Atelis Syndrome 1 |
|
Carious teeth, Dry skin, Leukopenia, Prominent nose, Glue ear, Ventricular septal defect, Hypothy... |
OMIM:620184 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Retrognat... |
ORPHA:352490 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Ventricular septal defec... |
ORPHA:261120 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... |
OMIM:616867 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Hematuria, Purpura |
OMIM:161950 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Myopathy, Cardiomyopathy |
ORPHA:26792 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypotension, Shock, Respiratory distress, Renal insufficiency, Respiratory tract infec... |
ORPHA:36234 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Low-set ears, Optic atrophy, Wide nasal bridge, Broad columella, Recurrent respiratory infections... |
OMIM:619383 |
Anti-Glomerular Basement Membrane Disease |
|
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Anemia, Purpura |
ORPHA:375 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Abnormality of the outer ear, Conductive ... |
ORPHA:79113 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Cutis marmorata, Pancytopenia, Hepatosplenomegaly, Livedo ra... |
OMIM:615688 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Orthopne... |
ORPHA:980 |
Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent... |
OMIM:306900 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short colum... |
OMIM:613603 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Aortic root aneurysm, Kyphosis, Narrow nose, Cutis marmorata, Congenital diaphragm... |
OMIM:617602 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... |
OMIM:600001 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Genu valgum, Ventricular septal defect, Prominent nasal tip, Atrial septal defect, Flat acetabula... |
OMIM:618870 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Choanal atresia, Retrognathia, Muscular ventricular septal defect, Butterfly verteb... |
OMIM:619227 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Arthritis, Anemia, Purpura |
OMIM:604250 |
Mixed Connective Tissue Disease |
|
Nephropathy, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Hemolytic anemia, Pleuriti... |
ORPHA:809 |
Neurofibromatosis-Noonan Syndrome |
|
Low-set ears, Depressed nasal bridge, Neurofibroma, Secundum atrial septal defect, Malar flatteni... |
OMIM:601321 |
Atelis Syndrome 2 |
|
Low-set ears, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Bulbous n... |
OMIM:620185 |
X-Linked Intellectual Disability, Nascimento Type |
|
Depressed nasal bridge, Peripheral pulmonary artery stenosis, Hearing impairment, Recurrent respi... |
ORPHA:163956 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Low-set ears, Dilated cardiomyopathy, Nasal congestion, Elbow flexion contracture, Bulbous nose, ... |
OMIM:608836 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Carious teeth, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Radioulna... |
ORPHA:536467 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Conductive hearing impairment, Short thumb, Abnormal heart morphology, S... |
ORPHA:391641 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Respiratory distress, Patent foramen ovale, A... |
ORPHA:89844 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Retrognathia, Short thumb, Persistenc... |
OMIM:612561 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Vitreous hemorrhage |
ORPHA:90050 |
Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short distal phalanx of finger, Hearing i... |
OMIM:614261 |
Cutaneous Small Vessel Vasculitis |
|
Vasculitis, Erythema, Cutis marmorata, Purpura, Urticaria |
ORPHA:889 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Hip dislocation, Skeletal muscle atrophy, Subdural hemorrhage, Kyphos... |
OMIM:618291 |
Down Syndrome |
|
Shallow acetabular fossae, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septa... |
OMIM:190685 |
Neurooculocardiogenitourinary Syndrome |
|
Low-set ears, Bilateral cryptorchidism, Tricuspid regurgitation, Prominent nasal bridge, Patent f... |
OMIM:618652 |
Emanuel Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... |
OMIM:609029 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Renal insuff... |
OMIM:203300 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
Hadziselimovic Syndrome |
|
Low-set ears, Ventricular hypertrophy, Tetralogy of Fallot, Anteverted nares, Prominent nasal bri... |
OMIM:612946 |
Malan Syndrome |
|
Retrognathia, Cutis marmorata, Hyperplasia of the premaxilla, Advanced eruption of teeth, Scolios... |
OMIM:614753 |
Li-Campeau Syndrome |
|
Low-set ears, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defec... |
OMIM:619189 |
Nemaline Myopathy 9 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Micrognathia, Ventricular septal defect, Sco... |
OMIM:615731 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Ventricular septal defect, Posteriorly rotated ears, Scoliosis, Patent ductus arter... |
OMIM:619717 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Aplasia of the thymus, Atrial septal defect, Hypoparathyroidism, Patent ductus arte... |
OMIM:618223 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Low-set ears, Bulbous nose, Ventricular septal defect, Atrial septal defect, Pulmonary sequestrat... |
OMIM:618330 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Secundum atrial septal defect, Uplifted earlobe |
OMIM:620183 |
Fetal Gaucher Disease |
|
Depressed nasal bridge, Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopeni... |
ORPHA:85212 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Hearing impairment, Talipes valgus, Decreased nerve conduction velocity, Ve... |
OMIM:616652 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... |
OMIM:263300 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Cerebral hemor... |
OMIM:263400 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Hearing impairment, Cleft at the s... |
OMIM:614669 |
Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Natal tooth, Prominent scalp veins, Dry skin, Micrognathia, Reduced subcutaneous ad... |
OMIM:264090 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Hearing impairment, Congenital diaphragmatic hernia, Histiocytoid... |
OMIM:309801 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hear... |
OMIM:301043 |
Propionic Acidemia |
|
Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Cardiomyopathy, Pa... |
OMIM:606054 |
Lowry-Maclean Syndrome |
|
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Bilateral cryptorchidism,... |
ORPHA:2409 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi... |
ORPHA:1926 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Respiratory distress, Prolonged QRS ... |
ORPHA:90068 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Incisor macrodontia, Po... |
OMIM:615502 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Abnormal cranial nerve morphology, Ve... |
ORPHA:624 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Hearing impairment, Atresia of the external auditory canal, Cryptorchidism... |
OMIM:601808 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Ventricular septal defect, Bicuspid aort... |
OMIM:618164 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... |
OMIM:187300 |
Viss Syndrome |
|
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... |
OMIM:619472 |
Ring Chromosome 12 Syndrome |
|
Low-set ears, Symphalangism of the thumb, Secundum atrial septal defect, Breast hypoplasia, Lumba... |
ORPHA:1439 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Pulmonary hypoplasia, Cupped ear, Retrognathia, Scoliosi... |
ORPHA:314588 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Poor wound healing, Abnormality of the spleen, Hepatosplenomegaly, Pa... |
ORPHA:2072 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
Bone Dysplasia, Lethal Holmgren Type |
|
Depressed nasal ridge, Rhizomelia, Joint dislocation, Micromelia, Hypertrophic cardiomyopathy, An... |
ORPHA:1842 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
8Q12 Microduplication Syndrome |
|
Wide nasal bridge, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Ventricul... |
ORPHA:228399 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Aplasia/Hypoplasia of the radius, Absent thumb, K... |
ORPHA:392 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... |
ORPHA:369929 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Aortic root aneurysm, Short toe, Umbilical hernia, Tricuspid regurgitati... |
ORPHA:404443 |
Pleural Mesothelioma |
|
Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal... |
ORPHA:50251 |
Noonan Syndrome 11 |
|
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Palmoplantar cut... |
OMIM:618499 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Dry skin, Decreased circulating T4 concentration, ... |
ORPHA:99832 |
Syndromic Diarrhea |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Renal hypoplasia, Small for gestation... |
ORPHA:84064 |
Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Atrial septal defect, Neutropenia, Patent ductus arteriosus, Wide nose, Hyper... |
OMIM:617303 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... |
ORPHA:90308 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:612336 |
Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Small hand, Coronal craniosynostosis, Aortic root aneu... |
OMIM:145420 |
Lujan-Fryns Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal b... |
ORPHA:776 |
Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose |
OMIM:137550 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Depressed nasal ridge, Hearing impairment, Aplas... |
ORPHA:1727 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Timothy Syndrome |
|
Pneumonia, Depressed nasal bridge, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Paten... |
OMIM:601005 |
Meacham Syndrome |
|
Death in childhood, Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... |
OMIM:608978 |
Stankiewicz-Isidor Syndrome |
|
Low-set ears, Absent thumb, Retrognathia, Hearing impairment, Short thumb, Prominent nose, Microg... |
OMIM:617516 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Short 5th finger, Choanal atresia, Underdeveloped nasal alae, Overhangin... |
ORPHA:163979 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Respiratory distress... |
OMIM:610978 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Skin ulcer, Subcutaneous hemorrhage, V... |
ORPHA:743 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:601612 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Abnormal erythrocyte morphology,... |
ORPHA:324636 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Prominent nose, Micrognathia, Overfolded helix, Patent foramen ovale, Ventricular se... |
OMIM:615668 |
Thanatophoric Dysplasia |
|
Low-set ears, Depressed nasal bridge, Platyspondyly, Kyphosis, Hearing impairment, Micromelia, Re... |
ORPHA:2655 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... |
OMIM:619374 |
Common Variable Immunodeficiency |
|
Pneumonia, Vasculitis, Emphysema, Failure to thrive in infancy, Lymphopenia, Hemolytic anemia, Re... |
ORPHA:1572 |
Kasabach-Merritt Phenomenon |
|
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Petechiae, Abnorma... |
ORPHA:2330 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Coarctation of aorta, A... |
OMIM:614857 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Acromesomelia, Recurrent pneumonia, Scoliosis, Abnormal earlobe morphology, Umb... |
ORPHA:500159 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Abnormality of the autonomic n... |
OMIM:611376 |
Phenobarbital Embryopathy |
|
Low-set ears, Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Malar flattening, Abnormal mitr... |
ORPHA:1919 |
Contractural Arachnodactyly, Congenital |
|
Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve... |
OMIM:121050 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Bruising susceptibility, Pituitary adenoma, Striae distensae, Obesity, Increa... |
OMIM:219090 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Vertigo, Transient ischemic attack, Pseudopapilledema, Stroke, Intracranial ... |
ORPHA:140989 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Underdeveloped nasal alae, Abnormal lung lobation, Micrognathia, ... |
ORPHA:2516 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Bruising susceptibility, Acute monocytic leukemia, Abnormal dense granule content, Abn... |
OMIM:601399 |
Asbestos Intoxication |
|
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... |
ORPHA:2302 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Low-set ears, Hearing impairment, Delayed cranial suture closure, Mitral regurgitation, Mitral va... |
OMIM:601776 |
Distal Deletion 15Q |
|
Low-set ears, Small hand, Hearing impairment, Micrognathia, Genu valgum, Congenital diaphragmatic... |
ORPHA:1596 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, R... |
ORPHA:210122 |
Slc35A1-Cdg |
|
Pneumonia, Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Respiratory distress, Pul... |
ORPHA:238459 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Cardiomyopathy, Respiratory distress, Splenomegaly, Stroke, Neutropenia, Thrombocy... |
ORPHA:79312 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Depressed nasal bridge, Conductive hearing impa... |
ORPHA:2876 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Aspiration pneumonia, Anteverted nares, ... |
OMIM:616430 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
Wrinkly Skin Syndrome |
|
Low-set ears, Hypoplasia of the musculature, Carious teeth, Delayed cranial suture closure, Crypt... |
OMIM:278250 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Low-set ears, Rhizomelia, Depressed nasal bridge, Hearing impairment, Abnor... |
OMIM:614114 |
Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Ovarian cys... |
OMIM:188400 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Abnormal bleeding, Retrognathia, Dry skin, Pancytopenia, Splenomegaly, Death in in... |
OMIM:614576 |
Transaldolase Deficiency |
|
Low-set ears, Depressed nasal bridge, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent fora... |
OMIM:606003 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, Depressed nasal bridge, Retrognathia, Micrognathia, Ventricular septal defect, Atri... |
OMIM:618142 |
Emanuel Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... |
ORPHA:96170 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Low-set ears, Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Micrognathia, Prominen... |
OMIM:309520 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness of orbicularis oculi muscle, S... |
ORPHA:2596 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Aortic root aneurysm, ... |
ORPHA:363618 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Depressed nasal bridge, Cardiomyopathy, Respiratory distress, Anteverted ... |
OMIM:217980 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Mogs-Cdg |
|
Optic atrophy, Retrognathia, Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Se... |
ORPHA:79330 |
Maternal Phenylketonuria |
|
Hypoplastic left heart, Hypoplastic helices, Wide nasal bridge, Tetralogy of Fallot, Abnormal hea... |
ORPHA:2209 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Aplasia... |
ORPHA:3186 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive hear... |
ORPHA:91130 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Warfarin-induced... |
ORPHA:745 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Hearing impairment, Hypogonadism, Partial atrioventricular canal defect, ... |
OMIM:615996 |
Hellp Syndrome |
|
Acute kidney injury, Hypotension, Poor wound healing, Microangiopathic hemolytic anemia, Decrease... |
ORPHA:244242 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Skeletal... |
OMIM:218000 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Tetralogy of Fallot, Abnormality of... |
ORPHA:2970 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... |
ORPHA:95430 |
Suleiman-El-Hattab Syndrome |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Hearing impairment, Overfolded helix, Cryptor... |
OMIM:618950 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Prominent ear helix, ... |
ORPHA:740 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Wide nasal bridge, Small hand, Secundum atrial septal defect, Hearing impairment, Anteverted nare... |
OMIM:620455 |
Riddle Syndrome |
|
Pneumonia, Erythema, Recurrent pneumonia, Bronchitis, Otitis media, Chronic sinusitis, Recurrent ... |
ORPHA:420741 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Petechiae, Sensorineural hearing imp... |
OMIM:605432 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Skeletal muscle atrophy, Subcutaneous hemorrhage, Cutis marmorata, Mi... |
ORPHA:109 |
Brucellosis |
|
Arteritis, Hypersplenism, Weight loss, Glomerulonephritis, Purpura, Endocarditis, Pleural effusio... |
ORPHA:1304 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... |
ORPHA:101028 |
Cohen Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary central incisor, Dec... |
OMIM:216550 |
Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol... |
OMIM:616276 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171420 |
Aspergillosis |
|
Pneumonia, Pleural effusion, Stroke, Eosinophilia, Hypersensitivity pneumonitis, Neutropenia, Int... |
ORPHA:1163 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Redundant ... |
ORPHA:2519 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... |
OMIM:218700 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Hip dislocation, Macrotia, Short nose, Hypertrophic cardiomyopathy, Vascula... |
ORPHA:3342 |
7Q31 Microdeletion Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Skeletal muscle atrophy, Childhood onset sensorineural h... |
ORPHA:251061 |
Tetrasomy 5P |
|
Low-set ears, Wide nasal bridge, Congestive heart failure, Respiratory distress, Anteverted nares... |
ORPHA:3309 |
Ogden Syndrome |
|
Low-set ears, Cardiogenic shock, Microretrognathia, Underdeveloped nasal alae, Enlarged naris, De... |
ORPHA:276432 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Hearing impairment, Micromelia, Redundant skin, ... |
ORPHA:93274 |
3P25.3 Microdeletion Syndrome |
|
Acromesomelia, Abnormality of the outer ear, Depressed nasal bridge, Scoliosis, Skeletal muscle a... |
ORPHA:435638 |
Mgat2-Cdg |
|
Scoliosis, Prominent antihelix, Abnormal bleeding, Abnormal earlobe morphology, Kyphosis, Respira... |
ORPHA:79329 |
Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... |
OMIM:615067 |
Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Cutis marmorata, Hepatosplenomegaly, Myocardial eosinophilic infiltration, Neutrophil... |
ORPHA:3260 |
Hydranencephaly |
|
Atrophic pituitary gland, Dilatation of the ventricular cavity, Abnormal internal carotid artery ... |
ORPHA:2177 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Hemophilia B |
|
Poor wound healing, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontane... |
ORPHA:98879 |
Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Sensorineural hearin... |
ORPHA:290 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Scoliosis, Hearing impairment, Abnormal heart morphology, Recurrent otitis media, B... |
OMIM:618494 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Wide nasal bridge, Platyspondyly, Large fleshy ears, Hypertrophic cardiomyopathy, A... |
OMIM:616897 |
Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Retr... |
ORPHA:166272 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology |
ORPHA:401942 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Bruising susceptibility, Recurrent joint dislocation, Recurrent sinus... |
OMIM:130010 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Fg Syndrome Type 1 |
|
Facial wrinkling, Micrognathia, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impa... |
ORPHA:93932 |
Frontoocular Syndrome |
|
Low-set ears, Coronal craniosynostosis, Micrognathia, Prominent nasal bridge, Atrial septal defec... |
OMIM:605321 |
Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Poor wound healing, Mitral regurgitation, Mitral valve prolapse, Fragile sk... |
ORPHA:287 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... |
OMIM:620484 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Low-set ears, Small hand, Cupped ear, Respiratory distress, Tricuspid regurgitation, Anteverted n... |
OMIM:612863 |
Cinca Syndrome |
|
Joint dislocation, Hearing impairment, Abnormal joint morphology, Pseudopapilledema, Leukocytosis... |
ORPHA:1451 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
Recombinant 8 Syndrome |
|
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Hearing impairment, Camptodac... |
ORPHA:96167 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Low-set ears, Depressed nasal bridge, Prominent nasal bridge, Ventricular septal defect, Atrial s... |
OMIM:618974 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Hearing impairment, ... |
OMIM:620157 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun... |
ORPHA:99826 |
Alg3-Cdg |
|
Hearing impairment, Cardiomyopathy, Abnormality of the nose, Coarctation of the descending aortic... |
ORPHA:79321 |
Noonan Syndrome 8 |
|
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Cryptorchidism... |
OMIM:615355 |
Verheij Syndrome |
|
Short 5th finger, Wide nasal bridge, Broad nasal tip, Branchial cyst, Retrognathia, Anteverted na... |
OMIM:615583 |
8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Low-set ears, Wide nasal bridge, Hypertrophic cardiomyopathy, Tetralogy o... |
ORPHA:251071 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Severe conductive hearing impairment, Poor wound healing, Genu valgum, Mitr... |
ORPHA:230851 |
Trisomy 13 |
|
Low-set ears, Optic atrophy, Abnormal helix morphology, Kyphosis, Abnormal lung lobation, Malar f... |
ORPHA:3378 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Mitral valve prolapse, Fragile skin, Pulmonary bulla, Absent earlobe, Pulmonary b... |
OMIM:130050 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Short thumb, Muscular ventricular septal ... |
OMIM:618569 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Low-set ears, Bifid nasal tip, Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery... |
OMIM:619343 |
Idiopathic Aplastic Anemia |
|
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... |
ORPHA:88 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... |
OMIM:610536 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Respiratory distress, Low-set, posteriorly rotated ears, N... |
ORPHA:990 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Contract... |
OMIM:300166 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Choanal atresia, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hear... |
OMIM:613309 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Cardiomyopathy, Failure to thrive, Respiratory distress, Leukopenia, Stag... |
OMIM:251000 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pleural effusion, Cyanos... |
ORPHA:2414 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Optic atrophy, Congenital contracture, Respiratory distress, Micrognathia, Death in infancy, Scol... |
OMIM:615042 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary h... |
ORPHA:231226 |
Tetrasomy 15Q26 |
|
Low-set ears, Microretrognathia, Cupped ear, Kyphoscoliosis, Atrial septal defect, Hydrocephalus,... |
OMIM:614846 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Platyspondyly, Enlargement of the ankles, Recurrent pneumonia, Acute myelomonocytic leukemia, Sec... |
ORPHA:99646 |
Synaptic Congenital Myasthenic Syndromes |
|
Scoliosis, Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fib... |
ORPHA:98915 |
Stormorken Syndrome |
|
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... |
OMIM:185070 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Respiratory ... |
ORPHA:209905 |
Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Eales Disease |
|
Epistaxis, Myelopathy, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic... |
ORPHA:40923 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hearing impairment, Lower limb muscle weakness, Motor axonal neuropathy, Orthopnea, Vasculitis, H... |
ORPHA:365 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor, Ragged-red muscl... |
OMIM:613561 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Diaphragmatic even... |
OMIM:620025 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Aminopterin/Methotrexate Embryofetopathy |
|
Wide nasal bridge, Spinal dysraphism, Micromelia, Tetralogy of Fallot, Low-set, posteriorly rotat... |
ORPHA:1908 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
Epidermolysis Bullosa Simplex 5A, Ogna Type |
|
Bruising susceptibility, Skin fragility with non-scarring blistering |
OMIM:131950 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Right aortic arch, Cyanosis, Death in... |
OMIM:617478 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Hearing impairment, Abnormal he... |
ORPHA:284169 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, Bi... |
ORPHA:254361 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Scoliosis, Abnormal cerebral vascular mo... |
ORPHA:758 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Low-set ears, Micrognathia, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atr... |
OMIM:265380 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
Pallister-Hall Syndrome |
|
Natal tooth, Atresia of the external auditory canal, Distal shortening of limbs, Cryptorchidism, ... |
OMIM:146510 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia... |
OMIM:600376 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased variability in muscle fiber diameter, Sensory axonal neuropathy, ... |
ORPHA:238329 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Respiratory distress, Neonatal death, Death in adolescence, Pulmonary a... |
OMIM:619751 |
Granulomatosis With Polyangiitis |
|
Sensorineural hearing impairment, Arrhythmia, Purpura, Abnormality of the hypothalamus-pituitary ... |
ORPHA:900 |
Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... |
ORPHA:494424 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Microretrognathia, Broad nasal tip, Low-set, posteriorly rotated ears, Prominent n... |
ORPHA:457193 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Horse... |
ORPHA:3097 |
Burn-Mckeown Syndrome |
|
Choanal atresia, Conductive hearing impairment, Hearing impairment, Bilateral choanal atresia, Bi... |
OMIM:608572 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Nasal mucosa telangiectasia, High-output congestive heart failure, Arteriovenous fistulas of celi... |
OMIM:610655 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Bruising susceptibility, Mitral valve prola... |
ORPHA:230839 |
Perching Syndrome |
|
Depressed nasal bridge, Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, Scoliosis |
OMIM:617055 |
Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb... |
ORPHA:52 |
Meningioma |
|
Lower limb muscle weakness, Increased circulating prolactin concentration, Neoplasm of the poster... |
ORPHA:2495 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hearing impairment, Hypertrophic cardiomyopathy, Apnea, Death in infancy, Ventricular septal defe... |
OMIM:616277 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Hearing impairment, Respiratory distress, Recurrent otitis media, Hypogonadism, Re... |
OMIM:615993 |
Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Low-set ears, Wide nasal bridge, Cholelithiasis, Coronal craniosynostosis, Retrognathia, Pancreat... |
ORPHA:83617 |
Ciliary Dyskinesia, Primary, 37 |
|
Hearing impairment, Goiter, Right aortic arch, Situs inversus totalis, Chronic rhinitis, Hypothyr... |
OMIM:617577 |
Coffin-Siris Syndrome 6 |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Retrognathi... |
OMIM:617808 |
Kanzaki Disease |
|
Depressed nasal bridge, Vertigo, Dry skin, Petechiae, Axonal degeneration, Lacunar stroke, Periph... |
OMIM:609242 |
C1Q Deficiency 2 |
|
Atelectasis, Facial erythema, Vasculitis in the skin, Anemia, Recurrent lower respiratory tract i... |
OMIM:620321 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent otitis media, Dry skin, Micrognathia, Recurrent sinusitis, Eosinop... |
OMIM:618282 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Scoliosis, Macrotia |
OMIM:300934 |
Hypomandibular Faciocranial Dysostosis |
|
Low-set ears, Optic disc coloboma, Recurrent respiratory infections, Anteverted nares, Death in i... |
ORPHA:1790 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Low-set ears, Choanal atresia, Recurrent pneumonia, Cupped ear, Retrognathia, Optic disc coloboma... |
OMIM:300472 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Mitral regurgitation, Atrial septal defect, Tachycardia, Patent ductus arteri... |
ORPHA:505248 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Left ventricular hypertroph... |
ORPHA:251274 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Ab... |
OMIM:614399 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Anteverted nares, C... |
OMIM:612938 |
Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Zechi-Ceide Syndrome |
|
Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Wide nasal bridge, Condu... |
ORPHA:217017 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Poor wound healing, Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral val... |
ORPHA:1900 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Shallow acetabular fossae, Congenital contracture, Hearing impairment, Pa... |
ORPHA:261279 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Bruising susceptibility, Decreased compound muscle action potential amplitude, Distal lower limb ... |
OMIM:620080 |
Isovaleric Acidemia |
|
Hyperglycinuria, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Th... |
OMIM:243500 |
Roifman Syndrome |
|
Recurrent pneumonia, Biconvex vertebral bodies, Short toe, Underdeveloped nasal alae, Recurrent o... |
OMIM:616651 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short hallux, Dysplastic ... |
ORPHA:508488 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Precocious puberty, Wide nasal bridge, Abnormal... |
ORPHA:2637 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical hernia, Knee disloca... |
OMIM:618000 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... |
OMIM:617201 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Depressed nasal bridge, Recurrent pneumonia, Aspiration pneumonia, Respiratory dist... |
ORPHA:314655 |
1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Craniosynostosis, Intraventricular hemorrhage, Cutis marmorata |
ORPHA:401986 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Redundant neck skin, Neonatal death, Pulmonary arterial hypertension, Pulmonary h... |
OMIM:619003 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Decreased response to growth hormone stimulat... |
OMIM:618624 |
Shigellosis |
|
Pneumonia, Hypovolemic shock, Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis,... |
ORPHA:810 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Low-set ears, Retrognathia, Underdeveloped nasal alae, Large fleshy ears, Abnormal heart morpholo... |
OMIM:263210 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... |
OMIM:208050 |
Chikungunya |
|
Neuritis, Epistaxis, Gingival bleeding, Erythema, Abnormal bleeding, Cervical lymphadenopathy, Pe... |
ORPHA:324625 |
Potocki-Lupski Syndrome |
|
Dental malocclusion, Hearing impairment, Micrognathia, Patent foramen ovale, Prominent nasal tip,... |
OMIM:610883 |
Andersen-Tawil Syndrome |
|
Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes... |
ORPHA:37553 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Hemorrhag... |
ORPHA:335 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Aortic root aneurysm, Premature graying of hair, Peripheral axonal neuropathy, Opt... |
ORPHA:90324 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Depressed nasal bridge, Mitral regurgitation, Ventricular septal defect, Abnormal nasal morpholog... |
ORPHA:83473 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... |
OMIM:613795 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Respi... |
OMIM:607143 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... |
ORPHA:97214 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Hearing impa... |
OMIM:182290 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
Leptospirosis |
|
Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Arrhyt... |
ORPHA:509 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ren... |
ORPHA:1667 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent ... |
ORPHA:261311 |
Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary h... |
ORPHA:231214 |
Isolated Atp Synthase Deficiency |
|
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Hypogon... |
ORPHA:254913 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Malar flattening, Death in infancy, At... |
ORPHA:93946 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Low-set ears, Choanal atresia, Small hand, Wide nasal bridge, Depressed nasal bridge, Hearing imp... |
OMIM:300968 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Tricuspid regurgitation, Talipes valgus, Anteverted nares, Short columella, Mit... |
OMIM:615879 |
Gm1 Gangliosidosis |
|
Low-set ears, Cherry red spot of the macula, Aspiration pneumonia, Hepatosplenomegaly, Ventricula... |
ORPHA:354 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps... |
OMIM:602782 |
Fumarase Deficiency |
|
Optic atrophy, Depressed nasal bridge, Polycythemia, Anteverted nares, Pallor, Reduced subcutaneo... |
OMIM:606812 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive hea... |
OMIM:610198 |
Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Retinal telan... |
ORPHA:774 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Recurrent upper respiratory tract infections, Congenital hip dislocation, Contract... |
ORPHA:3078 |
Tarp Syndrome |
|
Hearing impairment, Extramedullary hematopoiesis, Micrognathia, Abnormal antihelix morphology, Cr... |
ORPHA:2886 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:3033 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Bulbous nose, Cryptorchidism, Ventricular septal defect, Cerebral hemorrhage,... |
OMIM:616682 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ankle flexion contracture, Retrognathia, Elbow flexion contracture, Micrognathia, Knee flexion co... |
OMIM:617468 |
Noonan Syndrome 4 |
|
Low-set ears, Depressed nasal bridge, Scoliosis, Dental malocclusion, Abnormal bleeding, Bruising... |
OMIM:610733 |
Tonne-Kalscheuer Syndrome |
|
Wide nasal bridge, Abnormal heart morphology, Decreased testicular size, Prominent nose, Microgna... |
OMIM:300978 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... |
ORPHA:1248 |
Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Hearing impairment, Dilatation of the cerebral artery, Limb musc... |
OMIM:232300 |
Oculoauriculofrontonasal Syndrome |
|
Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Wide nos... |
ORPHA:398156 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short... |
OMIM:269860 |
Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Hearing impairment, Micromelia, Redundant skin, ... |
ORPHA:1860 |
Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... |
OMIM:613834 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Martsolf Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Short toe, Card... |
OMIM:212720 |
Stickler Syndrome Type 1 |
|
Platyspondyly, Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Mitral valve p... |
ORPHA:90653 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymph... |
OMIM:603554 |
Gaucher Disease Type 2 |
|
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Splenome... |
ORPHA:77260 |
Noonan Syndrome 5 |
|
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Dry skin, Cryptorchidism, Cubi... |
OMIM:611553 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tach... |
ORPHA:70587 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type... |
OMIM:263000 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Low-set ears, Choanal atresia, Cupped ear, Retrognathia, Optic disc coloboma, Hearing impairment,... |
ORPHA:52055 |
Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Hearing impairment, Short thumb, Abnormality of the nose, ... |
ORPHA:1708 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Neutropenia, Autoimmune ... |
OMIM:607944 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Death in early adulthood, Abnormal mitral valve morphology, Sensorineu... |
ORPHA:192 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal... |
ORPHA:93126 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Renal artery stenosi... |
OMIM:171300 |
Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Ortho... |
ORPHA:563 |
Kabuki Syndrome 2 |
|
Low-set ears, Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Hearing impair... |
OMIM:300867 |
Al Amyloidosis |
|
Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Arrhythmi... |
ORPHA:85443 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Recurrent acute ... |
OMIM:620011 |
Noonan Syndrome 13 |
|
Low-set ears, Wide nasal bridge, Bruising susceptibility, Recurrent otitis media, Dry skin, Antev... |
OMIM:619087 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Umbilical hernia, Tetralogy of Fallot, Malar flattening, Pa... |
OMIM:612582 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Depressed nasal bridge, Secundum atrial septal defect, Hearing impairment, Bicuspid aortic valve,... |
OMIM:613355 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation ... |
OMIM:620210 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Wide nasal bridge, Depressed nasal bridge, Kyphosis, Retrognathia, Bulbous nose, Micrognathia, Ve... |
OMIM:617061 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Low-set ears, Optic atrophy, Short 5th finger, Short distal phalanx of finger, Wide nasal bridge,... |
OMIM:220500 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Retrognathia, Elbow dislocation, Abnormal lung lobation, Low-set, posteriorly rotated ears, Campt... |
ORPHA:2631 |
16P12.1P12.3 Triplication Syndrome |
|
Low-set ears, Short 5th finger, Retrognathia, Bilateral cryptorchidism, Abnormal heart morphology... |
ORPHA:485405 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Genu recurvatum, Hypoplasia of the maxilla, Small hand, Delayed eruption of te... |
ORPHA:915 |
3Mc Syndrome 2 |
|
Wide nasal bridge, Abnormal vertebral morphology, Hypoplasia of the musculature, Hearing impairme... |
OMIM:265050 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Low-set ears, Depressed nasal bridge, Micromelia, Respiratory distress, Short ribs, Ventricular s... |
OMIM:617895 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Retrognathia, Aortic dissection, Arterial tortuosity, Dilatation of the cer... |
OMIM:614816 |
Filippi Syndrome |
|
Wide nasal bridge, Optic atrophy, Underdeveloped nasal alae, Serrated incisors, Cryptorchidism, V... |
OMIM:272440 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair... |
OMIM:616367 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypn... |
ORPHA:26793 |
Relapsing Polychondritis |
|
Erythema, Abnormal pattern of respiration, Atelectasis, Vertigo, Large vessel vasculitis, Chondri... |
ORPHA:728 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Mitral va... |
OMIM:182212 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Cryptorchidism, Death ... |
OMIM:214100 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Low-set ears, Umbilical hernia, Bulbous nose, Cryptorchidism, Patent foramen ovale, Ventricular s... |
ORPHA:329224 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia, Death in infancy, Umbilical hernia |
OMIM:254120 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Low-set ears, Delayed eruption of permanent teeth, Anteverted nares, Ventricular septal defect, P... |
OMIM:618506 |
Alpha-Thalassemia |
|
Cholelithiasis, Hyperplasia of the maxilla, Congestive heart failure, Extramedullary hematopoiesi... |
ORPHA:846 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impai... |
OMIM:616974 |
Shprintzen-Goldberg Syndrome |
|
Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Mitral regurgitation, Mitral valve pr... |
ORPHA:2462 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Protruding... |
OMIM:301039 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... |
OMIM:313900 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis m... |
ORPHA:48435 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Purpura |
ORPHA:3204 |
Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Depressed nasal bridge, Thick nasal alae, Short columella, Atrial... |
OMIM:611816 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Lymphadenopathy, Arthritis, Acrocyano... |
ORPHA:343 |
Cushing Disease |
|
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Lymph... |
ORPHA:96253 |
Noonan Syndrome 2 |
|
Low-set ears, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bic... |
OMIM:605275 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Low-set ears, Abnormal bleeding, Hearing impairment, Micrognathia, Patent foramen ovale, Ventricu... |
OMIM:208085 |
Ramos-Arroyo Syndrome |
|
Depressed nasal bridge, Carious teeth, Respiratory distress, Anteverted nares, Aganglionic megaco... |
ORPHA:1051 |
Cutis Marmorata Telangiectatica Congenita |
|
Scoliosis, Arteriovenous malformation, Subcutaneous hemorrhage, Arterial stenosis, Micrognathia, ... |
ORPHA:1556 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Syncope, Orthostatic hypotension, Bruising susceptibility |
OMIM:143850 |
Lateral Meningocele Syndrome |
|
Low-set ears, Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Bic... |
OMIM:130720 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Persistence ... |
OMIM:619769 |
Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Cryptorchidism, Ventricular se... |
OMIM:617159 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Low-set ears, Wide nasal bridge, Retrognathia, Hearing impairment, Prominent nasal bridge, Crypto... |
OMIM:617452 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Low-set ears, Precocious puberty, Conductive hearing impairment, Kyphosis, ... |
ORPHA:254346 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Gingival bleeding, Joint dislocation, Bruising susceptibility, Umbilical hernia, Fragile skin, Pr... |
OMIM:617174 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Wide nasal bridge, Microretrognathia, Dilation of Virchow-Robin spaces, Contracture of the proxim... |
OMIM:300998 |
Acrocardiofacial Syndrome |
|
Low-set ears, Wide nasal bridge, Joint dislocation, Camptodactyly of finger, Tetralogy of Fallot,... |
ORPHA:2008 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regu... |
ORPHA:313892 |
Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... |
OMIM:616176 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Small hand, Cryptorchidism, Ventricular septal defec... |
OMIM:235510 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... |
OMIM:604381 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Low-set ears, Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defe... |
OMIM:617506 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Angioedema, Abnormal heart valve morphology, Emphysema, Pleural effusion, Sple... |
ORPHA:36412 |
Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Hearing impairment, Atelectasis, Camptodactyly of finger, Narrow nasa... |
ORPHA:896 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Short tibia, Elbo... |
ORPHA:1106 |
Fontaine Progeroid Syndrome |
|
Low-set ears, Micrognathia, Reduced subcutaneous adipose tissue, Cryptorchidism, Neonatal death, ... |
OMIM:612289 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Abnorma... |
ORPHA:93262 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Abnormal pattern of respiration |
ORPHA:88619 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Low-set ears, Abnormal vertebral morphology, Hearing impairment, Prominent... |
ORPHA:536471 |
Immunodeficiency 95 |
|
Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t... |
OMIM:619773 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... |
ORPHA:228190 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Congestive heart failur... |
OMIM:608328 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Reduced natural killer cell count, Failure to thrive, Cerebral vasculitis, D... |
OMIM:243700 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Hypoplasia of the ear cartilage, Micromelia, Umbilical hernia, Low-set, posteriorly rotated ears,... |
ORPHA:1035 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Hypoplasia of the maxilla, Mitral valve prolapse, Narrow vertebral interpedicular ... |
OMIM:601216 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Dry skin, Ventricular septal defect, Uplifted earlobe, Acute lymph... |
OMIM:280000 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posterior pituitary hypoplasia, Ventricular septal defe... |
ORPHA:75389 |
Benign Schwannoma |
|
Nasal polyposis, Peripheral schwannoma, Vertigo, Schwannoma, Vestibular schwannoma, Abnormal cran... |
ORPHA:252164 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Poor wound healing, Increased circulating cortisol level, Abnormal lym... |
ORPHA:99889 |
Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Recurrent pneumonia, Block vertebrae, Optic disc coloboma, Ant... |
OMIM:304050 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Anteverted nares, Pr... |
OMIM:617751 |
Bilateral Striopallidodentate Calcinosis |
|
Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:1980 |
Noonan Syndrome 10 |
|
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Mitral valve p... |
OMIM:616564 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Large placenta, Cryptorchidi... |
ORPHA:96334 |
Shashi-Pena Syndrome |
|
Low-set ears, Broad nasal tip, Dilation of Virchow-Robin spaces, Retrognathia, Cupped ear, Kyphos... |
OMIM:617190 |
Hypoglossia With Situs Inversus |
|
Low-set ears, Polysplenia, Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia |
OMIM:612776 |
Kleefstra Syndrome |
|
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aor... |
ORPHA:261494 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death i... |
OMIM:614299 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Congenital diaphragmatic he... |
OMIM:618454 |
Genitopatellar Syndrome |
|
Low-set ears, Delayed eruption of teeth, Hearing impairment, Prominent nose, Micrognathia, Apnea,... |
ORPHA:85201 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra... |
OMIM:617194 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Camptodactyly of finger, Cryptorchid... |
OMIM:300963 |
Crouzon Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Hearing... |
ORPHA:207 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Petechiae, B lympho... |
OMIM:620133 |
Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Decreased muscle mass, Hearing abnormality, Kyphoscolio... |
OMIM:616507 |
Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... |
ORPHA:60032 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Low-set ears, Narrow naris, Reduced subcutaneous adipose tissue, Atrial septal defect, Hip disloc... |
OMIM:617403 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... |
ORPHA:99901 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... |
OMIM:601596 |
Intellectual Disability-Strabismus Syndrome |
|
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Recurren... |
ORPHA:363528 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... |
OMIM:610205 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia |
OMIM:273900 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Bilateral trilobed lung,... |
OMIM:613630 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter... |
ORPHA:1145 |
De Barsy Syndrome |
|
Low-set ears, Prominent veins on trunk, Decreased muscle mass, Cryptorchidism, Excessive wrinkled... |
ORPHA:2962 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Hearing impairment, Respiratory distress, Situs inversus totalis, Otitis media, ... |
OMIM:606763 |
Abruzzo-Erickson Syndrome |
|
Conductive hearing impairment, Short toe, Malar flattening, Cryptorchidism, Sensorineural hearing... |
ORPHA:921 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ... |
OMIM:619142 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Low-set ears, Broad columella, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Abnormali... |
ORPHA:166035 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventricular hemo... |
OMIM:619055 |
Atelosteogenesis, Type Ii |
|
Platyspondyly, Depressed nasal bridge, Cervical kyphosis, Micromelia, Lacunar halos around chondr... |
OMIM:256050 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hyphema, Recurrent otitis media, Genu valgum, Cryptorchidism, Ventricular ... |
ORPHA:261552 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Bilateral elbow dis... |
OMIM:166300 |
Myhre Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Enlarged vertebral pedicles, Cryptorchid... |
OMIM:139210 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Short distal phalanx of finger, Anteverted nares, Micrognathia, Atrial septal... |
OMIM:619356 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:2255 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Micrognathia, Ventricular septal defect, Atrial septal defect, Patellar dislocation... |
OMIM:620663 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Protruding ear, Optic atrophy, Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
Isolated Klippel-Feil Syndrome |
|
Hearing impairment, Abnormal cranial nerve morphology, Congenital muscular torticollis, Ventricul... |
ORPHA:2345 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Low-set ears, Narrow naris, Biventricular hypertrophy, Reduced subcutaneous adipose tissue, Mitra... |
OMIM:617402 |
Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Respiratory distress, Penile hyposp... |
OMIM:300219 |
Fryns Syndrome |
|
Wide nasal bridge, Abnormal aortic arch morphology, Short distal phalanx of finger, Tetralogy of ... |
ORPHA:2059 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hypoplasia of the maxilla, Hypoplasia of the z... |
ORPHA:193 |
Primary Sjögren Syndrome |
|
Arteritis, Dry skin, Cutis marmorata, Lymphopenia, Decreased proportion of CD4-positive helper T ... |
ORPHA:289390 |
Pde4D Haploinsufficiency Syndrome |
|
Hearing impairment, Micrognathia, Cryptorchidism, Prominent nasal tip, Short metacarpal, Short no... |
ORPHA:439822 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Depressed nasal bridge, Respiratory distress, Hyp... |
OMIM:604377 |
Phace Association |
|
Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual t... |
OMIM:606519 |
Scorpion Envenomation |
|
Erythema, Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonuria, Conges... |
ORPHA:466677 |
Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Small hand, Block vertebrae, Optic disc coloboma, Butterfly ve... |
ORPHA:50 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Depressed nasal tip, Mitral regurgitation, Patent foramen ovale, Camp... |
ORPHA:88630 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Hearing impairment, Decreased muscle mass, Recurrent joint dislocation, Cryptorchidism, Myopathy,... |
ORPHA:2953 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... |
ORPHA:99105 |
Orofaciodigital Syndrome Xiv |
|
Low-set ears, Microretrognathia, Natal tooth, Occipital encephalocele, Optic disc coloboma, Micro... |
OMIM:615948 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Retrognathia, Decreased muscle mass, Bruising susceptibility, Prominent nas... |
OMIM:615582 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Esophageal Atresia |
|
Abnormal vertebral morphology, Choanal atresia, Hearing impairment, Bronchitis, Respiratory distr... |
ORPHA:1199 |
Complement Component 2 Deficiency |
|
Purpura |
OMIM:217000 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Depressed nasal bridge, Small hand, Hearing impairment, Bulbous nose, Cutis mar... |
OMIM:610759 |
Developmental And Epileptic Encephalopathy 66 |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cryptorchidism, Ventricula... |
OMIM:618067 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis... |
OMIM:615508 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Choanal atresia, Depressed nasal bridge, Hypop... |
ORPHA:1555 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Cutis marmorata, Microgna... |
ORPHA:96121 |
Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
Odontochondrodysplasia 1 |
|
Platyspondyly, Dentinogenesis imperfecta, Genu recurvatum, Biconvex vertebral bodies, Delayed eru... |
OMIM:184260 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormal bleeding, Abnormal cerebral vascular morphology, Bruising susceptibility... |
ORPHA:3318 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Endo... |
OMIM:212140 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Depressed nasal bridge, Rhizomelia, Kyphosis, Hearing impairment, Congestive heart... |
OMIM:616482 |
Fanconi Anemia, Complementation Group B |
|
Low-set ears, Bilateral radial aplasia, Abnormal vertebral morphology, Absent thumb, Aplastic ane... |
OMIM:300514 |
Cerebral Visual Impairment |
|
Optic atrophy, Ischemic stroke, Hydrocephalus, Optic disc pallor, Intracranial hemorrhage, Increa... |
ORPHA:447788 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Decrease... |
OMIM:615368 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop... |
OMIM:620654 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Wide nasal bridge, Choanal atresia, Delayed eruption of teeth, Hearing impairment, Short thumb, M... |
OMIM:619148 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Micrognathi... |
OMIM:619326 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria, ... |
OMIM:603585 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Ecchymosis, Neu... |
OMIM:614075 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim... |
ORPHA:403 |
Stevenson-Carey Syndrome |
|
Low-set ears, Joint contracture of the hand, Underdeveloped nasal alae, Central hypoventilation, ... |
OMIM:611961 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Hematochezia, Cervical lymphaden... |
OMIM:617718 |
Immunoglobulin A Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Optic atrophy, Erythema, Skin ulcer, Angioedema, Vascula... |
ORPHA:761 |
Fibrinolytic Defect |
|
Spontaneous hematomas |
OMIM:134900 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Aplasia/Hypoplasia invo... |
ORPHA:1529 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Keutel Syndrome |
|
Hearing impairment, Recurrent otitis media, Recurrent bronchitis, Ventricular septal defect, Shor... |
OMIM:245150 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Respiratory distress, Atrioventricular canal defect, Spleno... |
OMIM:617088 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Low-set ears, Retrognathia, Hearing impairment, Aplasia/Hypoplasia of the external ear, Prominent... |
ORPHA:505237 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Tricuspid ... |
OMIM:620233 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autono... |
ORPHA:83601 |
Sweeney-Cox Syndrome |
|
Low-set ears, Crumpled ear, Hearing impairment, Micrognathia, Uplifted earlobe, Patent ductus art... |
OMIM:617746 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Myocardial infarction, Cachexia, Acute infectious pneumon... |
ORPHA:60033 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Low-set ears, Abnormal helix morphology, Hearing impairment, Hepatosplenomegaly, Micrognathia, Mi... |
OMIM:614866 |
Tularemia |
|
Pneumonia, Respiratory distress, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpho... |
ORPHA:3392 |
Multiple Pterygium Syndrome, X-Linked |
|
Low-set ears, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Amyoplas... |
OMIM:312150 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Arthrogryposis-like hand anomaly, Wide nasal bridge, Depressed nasal bridge, Hearin... |
ORPHA:369891 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Camptodactyly o... |
OMIM:616920 |
Noonan Syndrome 3 |
|
Low-set ears, Hypoplastic nasal bridge, Bruising susceptibility, Juvenile myelomonocytic leukemia... |
OMIM:609942 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Conductive hearing impairment, Absent thumb, Short 1st metacarpal, S... |
OMIM:609053 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Recurrent otitis media, Micrognathia, Rhabd... |
OMIM:614921 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Micrognathia, Cryptorchidism, Death in infancy, Ventricular septal defect, Aganglionic megacolon,... |
ORPHA:452 |
Mosaic Trisomy 9 |
|
Low-set ears, Hip dislocation, Micromelia, Elbow dislocation, Camptodactyly of finger, Abnormal h... |
ORPHA:99776 |
Trisomy 8P |
|
Abnormal middle ear morphology, Cryptorchidism, Dysplastic aortic valve, Short nose, Short 1st me... |
ORPHA:264450 |
19P13.3 Microduplication Syndrome |
|
Low-set ears, Precocious puberty, Underdeveloped nasal alae, Prominent nose, Micrognathia, Ventri... |
ORPHA:447980 |
Bohring-Opitz Syndrome |
|
Low-set ears, Supernumerary nipple, Micrognathia, Delayed peripheral myelination, Ventricular sep... |
OMIM:605039 |
Woods Syndrome |
|
Wide nasal bridge, Optic atrophy, Supernumerary nipple, Limited elbow extension, Ventricular sept... |
OMIM:615236 |
Noonan Syndrome |
|
Abnormality of the spleen, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Radiou... |
ORPHA:648 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Wiedemann-Steiner Syndrome |
|
Low-set ears, Short 5th finger, Small hand, Broad nasal tip, Wide nasal bridge, Short toe, Recurr... |
OMIM:605130 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Low-set ears, Wide nasal bridge, Anisospondyly, Micromelia, Abnormal heart morphology, Pterygium,... |
ORPHA:1865 |
Dysosteosclerosis |
|
Platyspondyly, Optic atrophy, Craniofacial hyperostosis, Delayed eruption of teeth, Hearing impai... |
ORPHA:1782 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Low-set ears, Aortic root aneurysm, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, M... |
OMIM:245600 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating ... |
ORPHA:404 |
Fabry Disease |
|
Hearing impairment, Angiokeratoma, Mitral regurgitation, Sensorineural hearing impairment, Arrhyt... |
ORPHA:324 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Short thumb, Underdeveloped n... |
ORPHA:436003 |
Zttk Syndrome |
|
Aortic regurgitation, Optic atrophy, Hypoplasia of the maxilla, Low-set ears, Small hand, Wide na... |
OMIM:617140 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... |
OMIM:261740 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:616777 |
Neonatal Marfan Syndrome |
|
Low-set ears, Abnormal cardiac ventricle morphology, Crumpled ear, Wide nasal bridge, Aortic root... |
ORPHA:284979 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Dextrotranspo... |
OMIM:619995 |
Atrial Septal Defect, Coronary Sinus Type |
|
Arrhythmia, Unroofed coronary sinus, Abnormally loud pulmonic component of the second heart sound... |
ORPHA:99104 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Low-set ears, Total anomalous pulmonary venous return, Hearing impairment... |
OMIM:115470 |
Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... |
OMIM:618280 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Aplasia of the proximal phalanges of the hand, Microgn... |
ORPHA:2256 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect, Failur... |
OMIM:617744 |
Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... |
ORPHA:1335 |
Moebius Syndrome |
|
Depressed nasal bridge, Respiratory distress, Congenital fibrosis of extraocular muscles, Aplasia... |
OMIM:157900 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Low-set ears, Small hand, Depressed nasal bridge, Mild hearing impairment,... |
ORPHA:459061 |
Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Micrognathia, Atrial septal defect, Hip dislocation, ... |
ORPHA:96148 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Low-set ears, Small hand, Bidirectional ventricular ectopy, Micrognathia, Short foot, Short metac... |
OMIM:170390 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal... |
ORPHA:268882 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... |
ORPHA:45452 |
Desbuquois Syndrome |
|
Genu recurvatum, Depressed nasal bridge, Small hand, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:1425 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Wide nasal bridge, Rhizomelia, Platyspondyly, Micrognathia, Ventricular septal defect |
ORPHA:93267 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Underdevelo... |
OMIM:192430 |
Opitz Gbbb Syndrome |
|
Low-set ears, Natal tooth, Aortic root aneurysm, Hearing impairment, Micrognathia, Congenital dia... |
ORPHA:2745 |
Char Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Supernumerary nipple, Persiste... |
ORPHA:46627 |
Immunodeficiency 9 |
|
Failure to thrive, Lymphopenia, Death in infancy, Hypoplasia of the thymus, Ectodermal dysplasia,... |
OMIM:612782 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Large earlobe, Cutis marmorata, Ventricular septal defect, Hydrocephalus,... |
OMIM:602501 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Wide nasal bridge, Abnormal helix morphology, Hearing impairment, Underdeveloped nasal alae, Abno... |
ORPHA:453499 |
Schuurs-Hoeijmakers Syndrome |
|
Low-set ears, Bulbous nose, Cryptorchidism, Patent foramen ovale, Bicuspid aortic valve, Abnormal... |
OMIM:615009 |
Alg9-Cdg |
|
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Delayed cranial suture closure, M... |
ORPHA:79328 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Splenomegaly, Ve... |
OMIM:616589 |
Developmental And Epileptic Encephalopathy 90 |
|
Ankle clonus, Apneic episodes in infancy, Hypothyroidism, Limb hypertonia, Atrial septal defect |
OMIM:301058 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Popliteal pterygium, Hearing abno... |
ORPHA:2990 |
German Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Tetralogy of Fallot, Microgna... |
ORPHA:2077 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Death in infancy, Ventricular septal defect, Neonatal death, Ectopic kidney, Cyst... |
OMIM:613730 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension, Weight loss, Bronchie... |
ORPHA:1164 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Conductive hearing impairment, Atresia of the external auditory canal, Atrioventricular canal def... |
ORPHA:2549 |
Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Broad nasal tip, Retrognathia, Respiratory distress, Abnormal heart mo... |
ORPHA:177907 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Intervertebr... |
OMIM:619656 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Low-set ears, Broad nasal tip, Bil... |
OMIM:619542 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Low-set ears, Wide nasal bridge, Lambdoidal craniosynostosis, Ventricular septal defect, Sagittal... |
OMIM:314320 |
Weiss-Kruszka Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th... |
OMIM:618619 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Res... |
ORPHA:79282 |
Holoprosencephaly |
|
Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal antihelix morphology, Ventri... |
ORPHA:2162 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Atrioventricular canal defect, Short humerus, Neonatal death, Pers... |
OMIM:314390 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Wide nasal bridge, Short hallux, Broad nasal tip, Ventricular septal defect |
OMIM:620393 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... |
OMIM:265120 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Scoliosis, Hearing impairment, Thoracic hemivertebrae, Genu valgum, Bicus... |
OMIM:619721 |
Robinow Syndrome |
|
Low-set ears, Flared nostrils, Micrognathia, Marked delay in eruption of permanent teeth, Cryptor... |
ORPHA:97360 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, Hip dislocation, Retrognathia, Kyphoscoliosis, Limb undergrowth, Hypothyroidis... |
OMIM:618005 |
Codas Syndrome |
|
Depressed nasal bridge, Crumpled ear, Congenital hip dislocation, Delayed eruption of teeth, Abno... |
ORPHA:1458 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Wide nasal bridge, Rhizomelia, Short thumb, Micrognathia, Patent foramen ovale,... |
OMIM:618821 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Arthrogryposis mult... |
OMIM:616531 |
Multiple Pterygium Syndrome, Lethal Type |
|
Low-set ears, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Amyoplas... |
OMIM:253290 |
Chromosome 10Q26 Deletion Syndrome |
|
Low-set ears, Flared nostrils, Wide nasal bridge, Congenital hip dislocation, Prominent nose, Mic... |
OMIM:609625 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Short distal phalanx of finger, Choanal atresia, Branchial fistula, Abnorma... |
ORPHA:261330 |
Czeizel-Losonci Syndrome |
|
Hypoplastic helices, Low-set, posteriorly rotated ears, Myelomeningocele, Micrognathia, Hypoplast... |
ORPHA:2437 |
Insulin-Like Growth Factor I, Resistance To |
|
Low-set ears, Wide nasal bridge, Small hand, Retrognathia, Short finger, Micrognathia, Reduced su... |
OMIM:270450 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Bifid nasal tip, Patent foramen ovale, Vertebral clefting, Atrial septal d... |
OMIM:616854 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Low-set ears, Hydranencephaly, Microretrognathia, Bulbous nose, Anteverted nares, Redundant neck ... |
OMIM:236500 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Choanal atresia, Hearing impairment, Abnormal heart morphology, Low-set, posterior... |
ORPHA:494344 |
Familial Exudative Vitreoretinopathy |
|
Hearing impairment, Abnormal optic disc morphology, Vitreous hemorrhage, Retinal neovascularizati... |
ORPHA:891 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... |
ORPHA:75566 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Depressed nasal ridge, Muscular dystrophy, Hearing impairment, Abnormal lun... |
ORPHA:1052 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hearing impairment, Bruising susceptibility, Apnea, Abnormal pulmonary... |
ORPHA:667 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory distress, Myopathy, Weakness of facial ... |
ORPHA:254875 |
Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricu... |
OMIM:300373 |
Myh9-Related Disease |
|
Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Renal insufficiency, Spontaneou... |
ORPHA:182050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Hypertension, Sc... |
OMIM:235400 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Hip dislocation, Occipital encephalocele, Micromelia, Micrognathia, Death... |
OMIM:241800 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexio... |
ORPHA:70 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... |
ORPHA:17 |
Koolen-De Vries Syndrome |
|
Hip dislocation, Aortic root aneurysm, Kyphosis, Macrotia, Dry skin, Bulbous nose, Prominent nasa... |
OMIM:610443 |
Alzahrani-Kuwahara Syndrome |
|
Low-set ears, Coronary sinus enlargement, Hearing impairment, Dry skin, Bulbous nose, Micrognathi... |
OMIM:619268 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... |
OMIM:610168 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se... |
OMIM:113000 |
Meckel Syndrome 14 |
|
Low-set ears, Microretrognathia, Occipital encephalocele, Retrognathia, Tricuspid regurgitation, ... |
OMIM:619879 |
Pycnodysostosis |
|
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hepatosplenomegaly, Microgn... |
ORPHA:763 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Abnormality of the temporomandibular joint, Absent muscle fib... |
ORPHA:258 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
White-Sutton Syndrome |
|
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Broad nasal tip, Hypoplastic ... |
OMIM:616364 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Malar flattening, ... |
ORPHA:94066 |
Menkes Disease |
|
Wormian bones, Intracranial hemorrhage, Cutis laxa, Death in childhood |
OMIM:309400 |
Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, De... |
OMIM:175700 |
Kapur-Toriello Syndrome |
|
Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Short thumb, Camptoda... |
OMIM:244300 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Hearing impairment,... |
OMIM:616894 |
Meconium Aspiration Syndrome |
|
Atelectasis, Aspiration pneumonia, Respiratory distress, Pulmonary arterial hypertension, Pneumot... |
ORPHA:70588 |
Medulloblastoma |
|
Delayed cranial suture closure, Vertigo, Abnormal cranial nerve morphology, Cerebellar hemorrhage... |
ORPHA:616 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Carpal synostosis, Fibular aplasia, Micrognathia, Hepatosplenomegaly, Patellar apl... |
OMIM:274000 |
Kawasaki Disease |
|
Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de... |
ORPHA:2331 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Recurrent pneumonia, Retrognathia, Anteverted nares, Ventricular septal defect, Pul... |
OMIM:616449 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... |
ORPHA:2357 |
Doors Syndrome |
|
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Aspiration pneumonia, Adre... |
ORPHA:79500 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial ... |
OMIM:123700 |
Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Abnormality of the crus of the helix, Dental malocclusion, Hearing im... |
ORPHA:137888 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Poor wound healing, Persistent open anterior fontanelle, Facial hypotonia, Mitral regurgitation, ... |
OMIM:615539 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Respiratory distress, ... |
ORPHA:367 |
Acrofacial Dysostosis, Cincinnati Type |
|
Low-set ears, Hearing impairment, Biventricular hypertrophy, Recurrent otitis media, Micrognathia... |
OMIM:616462 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... |
OMIM:155100 |
Familial Isolated Restrictive Cardiomyopathy |
|
Abnormal left ventricular function, Recurrent respiratory infections, Hypertrophic cardiomyopathy... |
ORPHA:75249 |
Pagod Syndrome |
|
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Abnormality of the spleen, Si... |
ORPHA:991 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Exertional dyspnea, Hyperlordosi... |
OMIM:615156 |
ERI1-related disease |
|
Low-set ears, Depressed nasal bridge, Platyspondyly, Conductive hearing impairment, Tricuspid reg... |
OMIM:608739 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Urinary retention, Skin ulcer... |
ORPHA:90307 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... |
ORPHA:231625 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... |
OMIM:619167 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern... |
OMIM:154400 |
Marden-Walker Syndrome |
|
Low-set ears, Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Antev... |
OMIM:248700 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Prominent nasal br... |
ORPHA:85279 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Wide nasal bridge, Multiple suture craniosynostosis, Low-set, posteriorly rotated ears, Ventricul... |
ORPHA:3369 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Abnormality of the outer ear, Bulbous nose, Cryptorchidism, Atrial septal defect, Scoliosis |
ORPHA:466926 |
Coffin-Siris Syndrome 7 |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Recurrent otitis media, Thick nasal ala... |
OMIM:618027 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Emp... |
OMIM:242700 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Lateral Meningocele Syndrome |
|
Low-set ears, Craniofacial hyperostosis, Conductive hearing impairment, Atresia of the external a... |
ORPHA:2789 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormality of the outer ear, Hearing impairment, Recurrent otitis media, Cryptorchidism, Atrial ... |
ORPHA:2728 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Abnormal mandible mo... |
ORPHA:83451 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Failure to thrive, Congestive heart failure, Atrial septal defect, Diabetes ins... |
ORPHA:500533 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Short 5th metacarpa... |
OMIM:156510 |
Mosaic Trisomy 1 |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Camptodactyly of fing... |
ORPHA:1692 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, B lymphocytopenia, Neutropenia, Cerebral hemorrhage |
OMIM:301081 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Broad nasal tip, Abnormal earlobe morphology, Prominent nose, Micrognath... |
ORPHA:96168 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Depressed nasal bridge, Elevated circul... |
ORPHA:95716 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Low-set ears, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Elevated circulating thyr... |
OMIM:613457 |
Autosomal Recessive Robinow Syndrome |
|
Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Micrognathia, Cryptorchidism, ... |
ORPHA:1507 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Oroticaciduria, Ventricular septal d... |
OMIM:258900 |
Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Depressed nasal bridge, Congenital hip dislocation, Carious teeth, Anteverted nares... |
OMIM:244450 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Emphysema, Redundant skin, Congenital diaphragmatic hernia, Flex... |
ORPHA:171719 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Chondrocalcinosis, Spontaneous hematomas, Umbilical hernia, Dry skin... |
ORPHA:565 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypert... |
OMIM:612387 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Low-set ears, Hypoplasia of the maxilla, Small hand, Wide nasal bridge, Bul... |
OMIM:609460 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Supernumerary nipple, Recurrent otiti... |
OMIM:213980 |
Pseudotrisomy 13 Syndrome |
|
Low-set ears, 11 pairs of ribs, Complete atrioventricular canal defect, Encephalocele, Ventricula... |
OMIM:264480 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis |
OMIM:615872 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia, Abnormal hear... |
OMIM:601499 |
Nelson Syndrome |
|
Increased circulating cortisol level, Lower limb muscle weakness, Increased circulating prolactin... |
ORPHA:199244 |
Holoprosencephaly 14 |
|
Low-set ears, Alobar holoprosencephaly, Proboscis, Anteverted nares, Ventricular septal defect, D... |
OMIM:619895 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Atelectasis, Hepatosplenomegaly, Leukocytosis, Death ... |
OMIM:618278 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Skeletal muscle atrophy, Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Dea... |
OMIM:211530 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Macrog... |
ORPHA:1423 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Umbilical... |
ORPHA:226313 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Dilation of Virchow-Robin spaces, Underdeveloped nasal alae... |
OMIM:619720 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Kyphosis, Antevert... |
ORPHA:261250 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal form of the vertebral bodies, Respirat... |
ORPHA:2759 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele... |
OMIM:253800 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... |
OMIM:605714 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... |
OMIM:605809 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri... |
ORPHA:99106 |
Apert Syndrome |
|
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Delayed... |
ORPHA:87 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Pericardial effus... |
ORPHA:411703 |
Craniofacial Dyssynostosis With Short Stature |
|
Malar flattening, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Abnormal location of ... |
OMIM:218350 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Conductive hearing impairment, Atelectasis, ... |
OMIM:244400 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Low-set ears, Wide nasal bridge, Scoliosis, Conductive hearing impairment,... |
ORPHA:2780 |
Lambotte Syndrome |
|
Semilobar holoprosencephaly, Atresia of the external auditory canal, Retrognathia, Ventricular se... |
OMIM:245552 |
Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... |
ORPHA:90041 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Cryptorchidism, An... |
OMIM:610829 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Respiratory distress, Shock, Leukopenia, Pleural effusion, Leukocytosis, ... |
ORPHA:36238 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hearing impairment, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasin... |
OMIM:101800 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Joint subluxation, Poor wound healing, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:130060 |
Lymphangioleiomyomatosis |
|
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lympha... |
ORPHA:538 |
Zellweger Syndrome |
|
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Micrognathia, Primary adrenal insuffici... |
ORPHA:912 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Nasal congestion, Recurrent otitis media, Situs inversus totalis, Chronic sinusi... |
OMIM:616037 |
Warsaw Breakage Syndrome |
|
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Cutis marmorata, Ventri... |
OMIM:613398 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Low-set ears, Depressed nasal bridge, Natal tooth, Micrognathia, Death in childhood, Death in inf... |
OMIM:616901 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
Cardiofaciocutaneous Syndrome |
|
Optic atrophy, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrotia, Hypertrophic c... |
ORPHA:1340 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... |
OMIM:618775 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Cupped ear, Large fleshy ea... |
OMIM:614080 |
Toriello-Carey Syndrome |
|
Low-set ears, Wide anterior fontanel, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, An... |
ORPHA:3338 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Choanal atresia, Small hand, Micrognathia, Absent gallbladder, Cryptorch... |
OMIM:300712 |
Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T... |
OMIM:618462 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Retinal arteriolar occlusion, Retinal arteriolar... |
OMIM:193220 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, Anteverted nares, Co... |
OMIM:612530 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Low-set ears, Retrognathia, Bulbous nose, Patent foramen ovale, Ventricular septal defect, Short ... |
OMIM:620113 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Otitis media, Chronic sinus... |
OMIM:300455 |
C Syndrome |
|
Low-set ears, Wide nasal bridge, Hip dislocation, Micromelia, Anteverted nares, Micrognathia, Cry... |
OMIM:211750 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Lumbar hyperlordosis, M... |
OMIM:277600 |
Nestor-Guillermo Progeria Syndrome |
|
Dry skin, Micrognathia, Mitral regurgitation, Limited elbow movement, Right atrial enlargement, A... |
OMIM:614008 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Ventricular septal def... |
OMIM:105650 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... |
ORPHA:1488 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Choanal atresia, Depressed nasal bridge, Natal tooth, Atresia of the external audi... |
OMIM:123790 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper ... |
OMIM:208900 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Coffin-Siris Syndrome |
|
Short 5th finger, Wide nasal base, Recurrent upper respiratory tract infections, Broad nasal tip,... |
ORPHA:1465 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Poor wound healing, Bruising susceptibility, Arterial rupture, Recurrent joint dislocation, Atria... |
OMIM:619115 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Pheochromocytoma, Cardi... |
ORPHA:805 |
Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Streak ovary... |
ORPHA:798 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Recurrent pneumonia, Cholelithiasis, Retrognathia, Anteverted nares, Contracture of... |
ORPHA:464738 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Depressed nasal bridge, Bulbous nose, Cryptorchidism, Patent foramen ovale, Transpo... |
OMIM:616789 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Foam cells, Tachypnea, Acute infectious pneumonia, Ta... |
ORPHA:264675 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia, Cutis laxa, Hip dislocation |
OMIM:614100 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig... |
OMIM:254210 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Optic atrophy, Dental malocclusion, Contractures of the large joints, Respiratory distress, Micro... |
ORPHA:329178 |
Radio-Tartaglia Syndrome |
|
Low-set ears, Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Conductive hearing i... |
OMIM:619312 |
Pelger-Huet Anomaly |
|
Depressed nasal bridge, Short 3rd metacarpal, Giant platelets, Umbilical hernia, Recurrent otitis... |
OMIM:169400 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcu... |
ORPHA:394 |
Zygomycosis |
|
Abnormal cranial nerve morphology, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastroi... |
ORPHA:73263 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Bruising susceptibility, Arterial rupture, Myopathy, Sensorineural heari... |
ORPHA:300179 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Retrognathia, Bruising susceptibility, Progeroid facial appearance, Narrow ... |
OMIM:616914 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Hearing impairment, Respiratory distress, Hypertrophic cardiomyopathy, Respiratory ... |
ORPHA:308552 |
Meier-Gorlin Syndrome 7 |
|
Low-set ears, Choanal atresia, Pulmonary hypoplasia, Second degree atrioventricular block, Hearin... |
OMIM:617063 |
Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Wide nasal base, Carious teeth, Short tibia, Micrognathia, Short nose, Ovoid verteb... |
OMIM:601559 |
Tetanus |
|
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... |
ORPHA:3299 |
Restrictive Dermopathy 1 |
|
Low-set ears, Natal tooth, Micrognathia, Neonatal death, Atrial septal defect, Patent ductus arte... |
OMIM:275210 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Hearing impairment, Aga... |
OMIM:614749 |
Coffin-Siris Syndrome 4 |
|
Short 5th finger, Macroglossia, Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Mi... |
OMIM:614609 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... |
ORPHA:1131 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Platyspondyly, Depressed nasal bridge, Joint contracture of the hand, Dental malocclusion, Delaye... |
OMIM:612350 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea... |
OMIM:603467 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Adrenal calc... |
ORPHA:51608 |
Double Outlet Left Ventricle |
|
Failure to thrive, Cyanosis, Cryptorchidism, Abnormal right ventricular function, Ventricular sep... |
ORPHA:3427 |
Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Depressed nasal bridge, Thick nasal alae, Atrial septal defect, W... |
OMIM:616938 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, Cryptorchidism, Ventricular septal defect... |
OMIM:607872 |
Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Hypoplasia of the maxilla, Mandibular prognathia, Macrotia |
ORPHA:93950 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Wide nasal bridge, Skin ulcer, Delayed eruption of teeth, Generalized abnormality of skin, Atelec... |
ORPHA:2314 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the exter... |
OMIM:106260 |
Zaki Syndrome |
|
Wide nasal bridge, Cupped ear, Anteverted nares, Micrognathia, Hypoplasia of the phalanges of the... |
OMIM:619648 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Depressed nasal bridge, Micromelia, Micrognathia, Malar flattening... |
OMIM:215045 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... |
ORPHA:231401 |
Tyshchenko Syndrome |
|
Low-set ears, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defe... |
OMIM:615102 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Cryptorchidism,... |
OMIM:258315 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Dental malocclusion, Micrognathia, Ventricular septal defect, Long nose, Low hangi... |
OMIM:613680 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cupped ear, Retrognathia, Umbilical hernia, Micrognathia, Joint contracture of the 5th finger, Pa... |
OMIM:618914 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ... |
OMIM:607323 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Superficial Siderosis |
|
Anosmia, Partial anosmia, Arteriovenous malformation, Abnormal bleeding, Lower limb muscle weakne... |
ORPHA:247245 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Micrognathia, Cryptorchidism, ... |
ORPHA:536532 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Pulmonary hypoplasia, Polysplenia, Stage 5 chronic kidney disease, Portal ... |
OMIM:208540 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Progeroid facial appearance, ... |
OMIM:608154 |
Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Abnormal lung morphology, Abnormal earlobe morphology, Abnormal lung loba... |
ORPHA:141127 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Bruising susceptibility, Vascular tortuosity, Decreased muscle mass, ... |
OMIM:612940 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Death in childhood, Weakness of... |
OMIM:220110 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Broad nasal tip, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Hypo... |
ORPHA:3306 |
Chops Syndrome |
|
Optic atrophy, Hearing impairment, Aspiration pneumonia, Anteverted nares, Cryptorchidism, Patent... |
OMIM:616368 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... |
ORPHA:90795 |
Alazami Syndrome |
|
Low-set ears, Cutis marmorata, Malar flattening, Atrial septal defect, Scoliosis, Wide nose |
ORPHA:319671 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Saethre-Chotzen Syndrome |
|
Low-set ears, Hearing impairment, Prominent crus of helix, Delayed cranial suture closure, Abnorm... |
ORPHA:794 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100006 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Erythema, Parotitis, Urticaria, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Sma... |
OMIM:620376 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Rhizomelia, Annular pancreas, Bruising susceptibility, Elbow contracture, Ulna... |
OMIM:618162 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Aspiration p... |
ORPHA:444077 |
Primary Release Disorder Of Platelets |
|
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis |
OMIM:176630 |
3Mc Syndrome 1 |
|
Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Conductive hearing impai... |
OMIM:257920 |
Trisomy 1Q |
|
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Microretrognathia, Camptodact... |
ORPHA:261344 |
Otodental Syndrome |
|
Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth, Abnormal molar morphol... |
ORPHA:2791 |
Congenital Enterovirus Infection |
|
Hypotension, Abnormal bleeding, Cardiomyopathy, Respiratory distress, Leukopenia, Pleural effusio... |
ORPHA:292 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Mitral regurgitation, Mi... |
ORPHA:2556 |
8Q22.1 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal ridge, Hypoplasia of the maxilla, Wide nasal bridge, Camptodactyly ... |
ORPHA:178303 |
Lambert Syndrome |
|
Jaundice, Branchial anomaly, Malar flattening, Ventricular septal defect |
ORPHA:1296 |
Fliedner-Zweier Syndrome |
|
Bulbous nose, Ventricular septal defect, Bicuspid aortic valve, Meningocele, Hypoplastic aortic a... |
OMIM:620511 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Aplasia of the na... |
OMIM:601812 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Tachypnea, Atelectasis, Respiratory distress |
OMIM:267450 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Goiter, Respiratory distress, Abnormal skeletal muscle morphology, Nodu... |
ORPHA:142 |
Cardiofaciocutaneous Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Dental malocclusion, Hearing impairment, Hypertrophic cardi... |
OMIM:115150 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... |
OMIM:615415 |
Noonan Syndrome 1 |
|
Low-set ears, Hearing impairment, Dry skin, Micrognathia, Cryptorchidism, Ventricular septal defe... |
OMIM:163950 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri... |
ORPHA:97287 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing im... |
ORPHA:500 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... |
ORPHA:2316 |
Distal 22Q11.2 Microduplication Syndrome |
|
Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Cryptorchid... |
ORPHA:261337 |
Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Skin ulcer, Congestive heart failur... |
ORPHA:727 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Recurrent upper respiratory tract infe... |
OMIM:300534 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Hearing impairment, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragmat... |
OMIM:619699 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... |
ORPHA:555874 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ... |
OMIM:123500 |
Braddock-Carey Syndrome 1 |
|
Wide nasal bridge, Small hand, Anteverted nares, Aortic valve prolapse, Ventricular septal defect... |
OMIM:619980 |
Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Mitral regurgitation, Intervertebral disk degeneration, Knee osteoarth... |
ORPHA:284984 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Macrotia |
ORPHA:261304 |
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Erythema, Hypoplastic nasal bridge, Retrognathia, Dry skin, Left ventricular hypertrophy, Atrial ... |
OMIM:620510 |
Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Ventricul... |
OMIM:270400 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Pulmonary hypoplasia, Natal tooth, Short tibia, Tetralogy o... |
OMIM:617925 |
Cerebrofacioarticular Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Bilateral choanal at... |
ORPHA:314679 |
Sponastrime Dysplasia |
|
Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bone, Hypoplasia of the nasal bone, ... |
ORPHA:93357 |
Jacobsen Syndrome |
|
Low-set ears, Optic atrophy, Depressed nasal bridge, Annular pancreas, Recurrent respiratory infe... |
OMIM:147791 |
Tetraamelia Syndrome 2 |
|
Low-set ears, Microretrognathia, Absent nipple, Micrognathia, Bilateral lung agenesis, Amelia, Ve... |
OMIM:618021 |
8P11.2 Deletion Syndrome |
|
Anosmia, Abnormality of the hypothalamus-pituitary axis, Depressed nasal bridge, Hypogonadism, Mi... |
ORPHA:251066 |
Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Orthopnea, Right atrial enlar... |
ORPHA:99103 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Abnormal nasal bo... |
ORPHA:521308 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Sen... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Sen... |
ORPHA:352665 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Low-set ears, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recurrent otitis med... |
OMIM:150230 |
Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Dry skin, Reduced subcutaneous ad... |
ORPHA:769 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Retrognathia, Trident pelvis, Ventricular septal defect, Kyphoscoliosis,... |
OMIM:614815 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, S... |
OMIM:207410 |
Bleeding Disorder, Platelet-Type, 25 |
|
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... |
OMIM:620486 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Ventricular septal defect, Pulmonary edema, Polycystic ovaries, T... |
ORPHA:137675 |
Hamamy Syndrome |
|
Low-set ears, Wide nasal bridge, Hypochromic anemia, Dental malocclusion, Neck pterygia, Microcyt... |
OMIM:611174 |
Joubert Syndrome 3 |
|
Low-set ears, Wide nasal bridge, Episodic tachypnea, Anteverted nares, Central apnea, Atrial sept... |
OMIM:608629 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Abnormal pinna morphology |
OMIM:246560 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Rhizomelia, Abnormal bleeding, Congestive heart failure, Respiratory distres... |
OMIM:616271 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Conductive hearing impairment, Respiratory distress, Recurren... |
OMIM:100800 |
Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septa... |
ORPHA:818 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia, Sensorineural hearing ... |
ORPHA:2143 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Cryptorchi... |
ORPHA:3310 |
Jansen-De Vries Syndrome |
|
Low-set ears, Small hand, Anteverted nares, Ventricular septal defect, Bicuspid aortic valve, Hyp... |
OMIM:617450 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Low-set ears, Congenital hip dislocation, Carious teeth, Broad nasal tip, Prominent veins on trun... |
ORPHA:357074 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia |
OMIM:616913 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage, Premature graying of hair |
OMIM:277175 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia |
OMIM:613554 |
Marfan Syndrome |
|
Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Limited elbow mo... |
ORPHA:558 |
Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Micrognathia, Cryptorchidism, Ventricular septal def... |
OMIM:256520 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Low-set ears, Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidi... |
OMIM:620005 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low-set ears, Optic atrophy, Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Dilatio... |
OMIM:619512 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Tetralogy of Fallot, Anteverted nares, Mic... |
OMIM:222765 |
Acrodysostosis |
|
Hearing impairment, Cryptorchidism, Genu varum, Short metacarpal, Short nose, Depressed nasal rid... |
ORPHA:950 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Retrognathia, Aortic dissection, Bruising susceptibility, Underdeveloped nasal alae, Micrognathia... |
OMIM:618343 |
Costello Syndrome |
|
Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Limited elbow movem... |
OMIM:218040 |
Fibrochondrogenesis 1 |
|
Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Short foot, Abnorm... |
OMIM:228520 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea, Sensorineural hearing impairment |
ORPHA:79097 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Arthrogryposis multiplex congenita, P... |
OMIM:601809 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Optic atrophy, Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Costello Syndrome |
|
Depressed nasal bridge, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Low-set, ... |
ORPHA:3071 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Low-set ears, Wide nasal bridge, Pancreatic lymphangiectasis, Micrognathia, Malar flattening, Red... |
OMIM:235255 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Abnormal heart morphology, Anteverted na... |
ORPHA:404440 |
Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
Noonan Syndrome 7 |
|
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Large earlobe, Cubitus valgus,... |
OMIM:613706 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Congenital hip dislocation, Supernumerary nipple, Abnormal heart morphology, Patent... |
ORPHA:457279 |
Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cryptorchidism, Ventricula... |
OMIM:150250 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Renal insufficiency, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Sca... |
ORPHA:293173 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short nose, Micrognathia, Synostosis of c... |
ORPHA:363417 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Low-set ears, Depressed nasal bridge, Rhizomelia, Thoracolumbar kyphosis, Severe limb shortening,... |
OMIM:151210 |
Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Abnormality of the adrenal glands, Hypospad... |
ORPHA:139466 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... |
OMIM:254450 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Low-set ears, Short distal phalanx of finger, Wide nasal bridge, Carious teeth, Depressed nasal b... |
OMIM:617102 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Low-set ears, Hearing impairment, Dry skin, Micrognathia, Ventricular sept... |
ORPHA:955 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Short toe, Atelectasis, Ch... |
ORPHA:333 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Presynaptic Congenital Myasthenic Syndromes |
|
Low-set ears, Congenital hip dislocation, Microretrognathia, Distal amyotrophy, Arthrogryposis mu... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Low-set ears, Congenital hip dislocation, Microretrognathia, Distal amyotrophy, Arthrogryposis mu... |
ORPHA:590 |
Campomelic Dysplasia |
|
Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Hearing impair... |
OMIM:114290 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Retrognathia, Bruising susceptibility, Sho... |
ORPHA:98791 |
Hermansky-Pudlak Syndrome 4 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Absent platelet dense granules, Pulmonary ... |
OMIM:614073 |
Cerebellar-Facial-Dental Syndrome |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Dental maloc... |
ORPHA:444072 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, 11 pairs of ribs, Micrognathia, Na... |
OMIM:620073 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Precocious puberty, Wide nasal bridge, Restrictive cardiomyopathy, Depressed nasal ... |
ORPHA:369837 |
Focal Dermal Hypoplasia |
|
Low-set ears, Erythema, Hearing impairment, Camptodactyly of finger, Abnormal dental enamel morph... |
ORPHA:2092 |
Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Hyperparathyroidism, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, R... |
OMIM:618188 |
Macs Syndrome |
|
Wide nasal bridge, Bronchiectasis, Dilation of Virchow-Robin spaces, Bruising susceptibility, Umb... |
OMIM:613075 |
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Low-set ears, Prominent nasal bridge, Ventricular septal defect, Atrial septal defect, Convex nas... |
ORPHA:261190 |
Oculoectodermal Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Supernumerary nipple, Hypertrophic cardiomyopathy, Tra... |
OMIM:600268 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect, Protrudin... |
OMIM:619123 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Bruising susceptibility, Biconcave f... |
OMIM:166200 |
Juvenile Polyposis Of Infancy |
|
Low-set ears, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal bleeding, ... |
ORPHA:79076 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Pleural effusion, Leukocytosis, ... |
ORPHA:2902 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h... |
OMIM:109120 |
Al Kaissi Syndrome |
|
Low-set ears, Wide nasal bridge, Small hand, Broad nasal tip, Depressed nasal bridge, Atrial sept... |
OMIM:617694 |
Lymphatic Malformation 6 |
|
Cupped ear, Hearing impairment, Chylothorax, Intestinal lymphangiectasia, Micrognathia, Pleural e... |
OMIM:616843 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... |
OMIM:618913 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Conductive hearing impairment, Abnormal heart morphology, Microgna... |
ORPHA:261197 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Hyperplasia of the maxilla |
OMIM:613671 |
Kniest Dysplasia |
|
Platyspondyly, Depressed nasal bridge, Rhizomelia, Conductive hearing impairment, Umbilical herni... |
OMIM:156550 |
Restrictive Dermopathy |
|
Low-set ears, Natal tooth, Micrognathia, Large placenta, Atrial septal defect, Dextrocardia, Thor... |
ORPHA:1662 |
Filippi Syndrome |
|
Wide nasal bridge, Optic atrophy, Broad columella, Underdeveloped nasal alae, Supernumerary nippl... |
ORPHA:3255 |
Codas Syndrome |
|
Depressed nasal bridge, Crumpled ear, Hypoplasia of the odontoid process, Conductive hearing impa... |
OMIM:600373 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal... |
ORPHA:178320 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Hyperplasia of the maxilla, Recurrent otitis media, Anteverted nares, Mic... |
ORPHA:513456 |
Proteus-Like Syndrome |
|
Genu recurvatum, Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Abnormality of the p... |
ORPHA:2969 |
Congenital Laryngeal Web |
|
Respiratory distress, Abnormal cardiac septum morphology |
ORPHA:2374 |
19Q13.11 Microdeletion Syndrome |
|
Congenital hip dislocation, Retrognathia, Hearing impairment, Supernumerary nipple, Underdevelope... |
ORPHA:217346 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Sen... |
ORPHA:353281 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hearing impairment, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Arrhythmia, Hyp... |
ORPHA:254892 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Hearing impairment, Micrognathia, Cryp... |
ORPHA:84 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Micr... |
OMIM:615108 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Atrial flutter, Respiratory distress, Hypogonadism, Facial diplegia, First degree... |
OMIM:160900 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
Pulmonary Arteriovenous Malformation |
|
Epistaxis, Bacterial endocarditis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho... |
ORPHA:2038 |
Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Mitral regurgitation, Abnormal mi... |
ORPHA:576 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, Hypoplasia of the maxilla, Skeletal muscle atrophy, Hearing impairment, Bulbous nos... |
ORPHA:481152 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Large fleshy ears, Atr... |
ORPHA:280633 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Failure to thrive, Lymphopenia, Autoi... |
OMIM:102700 |
Oculodentodigital Dysplasia |
|
Carious teeth, Hearing impairment, Micrognathia, Ventricular septal defect, Arrhythmia, Short hal... |
ORPHA:2710 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:214300 |
Familial Cerebral Cavernous Malformation |
|
Vascular skin abnormality, Neuroma, Venous malformation, Cerebral hemorrhage, Scoliosis |
ORPHA:221061 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Prominent nasal bridge, Bicoronal synostosis, Patent foramen ovale, Arrhythmia,... |
OMIM:619184 |
Diaphanospondylodysostosis |
|
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Micrognathia, ... |
OMIM:608022 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Hearing impairment, Tetralogy of Fallot, Anteverted ... |
ORPHA:96147 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Retrognathia, Ventricular septal defect, Protruding ear, Pulmonary artery... |
OMIM:301030 |
Feingold Syndrome 1 |
|
Interrupted aortic arch, Low-set ears, Accessory spleen, Wide nasal bridge, Annular pancreas, Hea... |
OMIM:164280 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana... |
ORPHA:3216 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Hearing impairment, Absent gallbladder, Atrial septal defect, Short nose, Hypoplasi... |
ORPHA:500150 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Wide nasal base, Wide nasal bridge, Depressed nasal bridge, Hepatosplenomegaly, Sensorineural hea... |
ORPHA:397709 |
Greenberg Dysplasia |
|
Low-set ears, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Micrognathia, Lar... |
OMIM:215140 |
Femoral-Facial Syndrome |
|
Low-set ears, Micrognathia, Encephalocele, Cryptorchidism, Ventricular septal defect, Limited elb... |
OMIM:134780 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low-set ears, Abnormality of the outer ear, Wide nasal bridge, Bulbous nose, Prominent nasal brid... |
OMIM:617360 |
Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Lower limb muscle weakness, Facial hyp... |
OMIM:300266 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Congenital diaphragmatic herni... |
ORPHA:1915 |
Lymphatic Malformation 7 |
|
Chylothorax, Respiratory distress, Pleural effusion, Pulmonary edema, Anemia, Atrial septal defec... |
OMIM:617300 |
Congenital Myopathy 22B, Severe Fetal |
|
Low-set ears, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip contracture,... |
OMIM:620369 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Erythema, Apnea, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachyc... |
OMIM:614653 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hype... |
OMIM:620306 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Micromelia, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricula... |
ORPHA:2772 |
Buratti-Harel Syndrome |
|
Low-set ears, Recurrent pneumonia, Dilation of Virchow-Robin spaces, Cryptorchidism, Atrial septa... |
OMIM:619314 |
2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Kyphosis, Optic disc coloboma, Camptodactyly of finger, Bulbous nose, Micrognathia,... |
ORPHA:251014 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralog... |
ORPHA:974 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Hearing impairment, Aspiration pneumonia, Genu valgum, Abnormal mitral... |
ORPHA:581 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... |
OMIM:164210 |
Ctcf-Related Neurodevelopmental Disorder |
|
Macrodontia of permanent maxillary central incisor, Broad nasal tip, Cupped ear, Low-set, posteri... |
ORPHA:363611 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Genu valgum, Prominent nasal tip, Limb undergrowth, Left superior ... |
OMIM:619143 |
Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Acute leukemia, Capitate-hamate fusion, Synostosis of carpal bone... |
ORPHA:289 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... |
ORPHA:49042 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph... |
ORPHA:319487 |
Marfan Syndrome |
|
Aortic root aneurysm, Decreased muscle mass, Premature osteoarthritis, Micrognathia, Mitral regur... |
OMIM:154700 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... |
ORPHA:96129 |
Arachnoid Cyst |
|
Lower limb muscle weakness, Cranial nerve compression, Vertigo, Encephalocele, Subarachnoid hemor... |
ORPHA:2356 |
Keipert Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasa... |
ORPHA:2662 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Micr... |
OMIM:615109 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Hearing impairment, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Neonatal ... |
OMIM:620024 |
Distal Duplication 5Q |
|
Low-set ears, Carious teeth, Absent thumb, Short nose, Micrognathia, Prominent nasal bridge, Cryp... |
ORPHA:96097 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Pneumonia, Respiratory distress, Weakness of facial m... |
ORPHA:596 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Decreased serum testostero... |
ORPHA:168563 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Beaking of vertebral bod... |
ORPHA:457395 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Kyphosis, Congestive heart failure, R... |
OMIM:615512 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral... |
ORPHA:90349 |
Congenital Disorder Of Glycosylation, Type Il |
|
Low-set ears, Depressed nasal bridge, Kyphosis, Splenomegaly, Atrial septal defect, Pericardial e... |
OMIM:608776 |
Bleeding Disorder In Hemophilia A Carriers |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... |
ORPHA:177926 |
Specc1L-Related Hypertelorism Syndrome |
|
Low-set ears, Wide nasal bridge, Abnormal helix morphology, Short toe, Umbilical hernia, Tetralog... |
ORPHA:1519 |
Al-Raqad Syndrome |
|
Low-set ears, Atrial septal defect, Short nose |
OMIM:616459 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Cryptorch... |
OMIM:257300 |
Loeys-Dietz Syndrome 1 |
|
Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve pro... |
OMIM:609192 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencepha... |
OMIM:610828 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, M... |
OMIM:224410 |
Turnpenny-Fry Syndrome |
|
Low-set ears, Small hand, Mitral valve prolapse, Prominent nasal tip, Atrial septal defect, Torti... |
OMIM:618371 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Micrognathia, Ventricular septal defect, Arthrog... |
OMIM:607598 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, Scoliosis, Kyphosis |
OMIM:300676 |
Acys Amyloidosis |
|
Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100008 |
Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Hypoplasia of the maxilla, Delayed eruption of teeth, Interphalangeal ... |
OMIM:259600 |
Meier-Gorlin Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia of the exter... |
OMIM:224690 |
Nipah Virus Disease |
|
Respiratory distress, Hypotension, Vertigo, Recurrent pharyngitis |
ORPHA:99825 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Nephrocalcinosis, Diabetes insipidus, Atrial septal defect |
OMIM:611087 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... |
OMIM:613404 |
Van Maldergem Syndrome 2 |
|
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Cryptorchidism, Sensori... |
OMIM:615546 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... |
ORPHA:79127 |
Chromosome 16P13.3 Duplication Syndrome |
|
Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Smal... |
OMIM:613458 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Retrognathia, Anteverted nares, Ventricular septal defect, Short nose, Hypoplasia ... |
OMIM:234050 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Type I diabetes mellitus, Congenital pulmonary airway malformation, Autoimmune hemolytic anemia, ... |
ORPHA:436252 |
Ververi-Brady Syndrome |
|
Low-set ears, Broad nasal tip, Cupped ear, Bulbous nose, Prominent nose, Transposition of the gre... |
OMIM:617982 |
Myhre Syndrome |
|
Precocious puberty, Craniofacial hyperostosis, Hypoplasia of the maxilla, Platyspondyly, Hearing ... |
ORPHA:2588 |
Cranioectodermal Dysplasia 2 |
|
Low-set ears, Micrognathia, Ectodermal dysplasia, Atrial septal defect, Bile duct proliferation, ... |
OMIM:613610 |
Yunis-Varon Syndrome |
|
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Micrognathia, Cryp... |
ORPHA:3472 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Depressed nasal bridge, Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Le... |
OMIM:620519 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Facial paralysis, Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic strok... |
OMIM:175780 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... |
ORPHA:206436 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma... |
ORPHA:306542 |
Agel Amyloidosis |
|
Bruising susceptibility, Cardiomyopathy, Dry skin, Stage 5 chronic kidney disease, Dermatological... |
ORPHA:85448 |
Polycythemia Vera |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Br... |
ORPHA:729 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Absence of the sacrum, Butterfl... |
OMIM:617660 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Ven... |
ORPHA:124 |
Phace Syndrome |
|
Ectopic thyroid, Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal c... |
ORPHA:42775 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Fibular aplasia, Microgn... |
ORPHA:3320 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Micrognathia, Mitral valve prolapse, Atrial septal defect, Hyperlordos... |
OMIM:300986 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces... |
OMIM:305400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul... |
OMIM:300967 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Low-set ears, Broad nasal tip, Micrognathia, Malar flattening... |
OMIM:617557 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip |
ORPHA:2776 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... |
ORPHA:51636 |
Avian Influenza |
|
Pneumonia, Congestive heart failure, Respiratory distress, Lymphopenia, Leukopenia, Pleural effus... |
ORPHA:454836 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Aplasia/Hypoplasia o... |
ORPHA:1307 |
Gaucher Disease Type 1 |
|
Gingival bleeding, Splenic infarction, Cholelithiasis, Abnormal bleeding, Bruising susceptibility... |
ORPHA:77259 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragm... |
OMIM:606164 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... |
OMIM:221300 |
Coffin-Siris Syndrome 12 |
|
Low-set ears, Delayed cranial suture closure, Micrognathia, Cryptorchidism, Sensorineural hearing... |
OMIM:619325 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Low-set ears, Depressed nasal bridge, Patent foramen ovale, Sensorineural hearing impairment, Kyp... |
OMIM:620075 |
Floating-Harbor Syndrome |
|
Low-set ears, Carious teeth, Cryptorchidism, Atrial septal defect, Long nose, Dislocated radial h... |
ORPHA:2044 |
Neurocardiofaciodigital Syndrome |
|
Retrognathia, Hearing impairment, Tetralogy of Fallot, Atrial septal defect, Overhanging nasal ti... |
OMIM:619869 |
Bcard Syndrome |
|
Low-set ears, Platyspondyly, Contracture of the proximal interphalangeal joint of the 2nd finger,... |
OMIM:612394 |
Oculodentodigital Dysplasia |
|
Hip dislocation, Carious teeth, Conductive hearing impairment, Underdeveloped nasal alae, Narrow ... |
OMIM:164200 |
Marshall-Smith Syndrome |
|
Optic atrophy, Choanal atresia, Conductive hearing impairment, Bruising susceptibility, Retrognat... |
ORPHA:561 |
Zika Virus Disease |
|
Ankle swelling, Wrist swelling, Subcutaneous hemorrhage, Transient hearing impairment, Abnormal o... |
ORPHA:448237 |
Kabuki Syndrome 1 |
|
Low-set ears, Abnormal vertebral morphology, Hearing impairment, Recurrent otitis media, Microgna... |
OMIM:147920 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Mandibular prognathia, Macrotia |
ORPHA:93945 |
Toxic Epidermal Necrolysis |
|
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Respiratory distress, Abnormal pleura morpholo... |
ORPHA:537 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Carotid artery dilatatio... |
ORPHA:391487 |
Acquired Methemoglobinemia |
|
Respiratory distress, Vertigo, Palpitations, Cyanosis, Methemoglobinemia, Arrhythmia, Syncope, Dy... |
ORPHA:464453 |
Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, Diabetes insi... |
OMIM:157170 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Cryptorchidism, Ventricular septal def... |
OMIM:613001 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Rhizomelia, Hypoplasia of the maxilla, Cervical kyphosis, Elbow dislocati... |
OMIM:108721 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Low-set ears, Kyphosis, Bruising susceptibility, Hypertrophic cardiomyopath... |
OMIM:619745 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Horseshoe kidney, Abnormal heart morphology, Pancytopenia, Cryptorchidis... |
OMIM:600901 |
Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Lymp... |
OMIM:158350 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Low-set ears, Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaph... |
OMIM:611812 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, 11 pairs of ribs, Cryptorchidism, Ventricular ... |
ORPHA:77298 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect |
OMIM:615476 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Cerebral ischemia, Stroke |
ORPHA:927 |
Kleefstra Syndrome 1 |
|
Natal tooth, Hearing impairment, Persistence of primary teeth, Anteverted nares, Conotruncal defe... |
OMIM:610253 |
Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, St... |
OMIM:616730 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Portal hypertension, Cerebral berry aneurysm |
OMIM:210050 |
Lethal Kniest-Like Dysplasia |
|
Low-set ears, Platyspondyly, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening,... |
ORPHA:2347 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Right ventricular failure, Interlobular... |
ORPHA:199241 |
Lymphedema-Distichiasis Syndrome |
|
Chylothorax, Kyphosis, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Arrhythmia, ... |
OMIM:153400 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Low-set ears, Gingival bleeding, Poor wound healing, Bruising susceptibility, Short toe, Spontane... |
OMIM:225410 |
Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory canal, Anotia, Mic... |
ORPHA:268249 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Bilateral cryptorchidism, Low-set, posteriorly rotated ears, Bulbous nose, Ven... |
ORPHA:434179 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Low-set ears, Foot oligodactyly, Anterior encephalocele, Amelia, Ventricular septal defect, Holop... |
OMIM:601357 |
Roberts-Sc Phocomelia Syndrome |
|
Low-set ears, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Cryptorchidism, Ventricular... |
OMIM:268300 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Vascular tortuosi... |
OMIM:219100 |
Van Maldergem Syndrome 1 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Atresia of the external audito... |
OMIM:601390 |
Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Joint dislocation, Neonatal death, Pulmonary insufficiency, Abnormal ... |
OMIM:245650 |
Dpagt1-Cdg |
|
Optic atrophy, Hearing impairment, Stroke-like episode, Diffuse optic disc pallor, Anemia, Campto... |
ORPHA:86309 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Genu recurvatum, Bruising susceptibility, Mitral regurgitation, Mitral valv... |
OMIM:225320 |
Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive h... |
ORPHA:2095 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Skin ulcer, Elevated bronchoalveolar lavage fluid neutrophil proport... |
OMIM:608710 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, Ventricular ... |
ORPHA:438213 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Low-set ears, Fetal intraventricular hemorrhage, Prominent nasal bridge, Limb hypertonia |
OMIM:618480 |
Listeriosis |
|
Pneumonia, Arteritis, Septic arthritis, Hearing impairment, Congestive heart failure, Respiratory... |
ORPHA:533 |
Alagille Syndrome 1 |
|
Low-set ears, Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Depressed nas... |
OMIM:118450 |
Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Anteverted nares, Leukocytosis, Splenomegaly, Ventricular septal defect, Periphera... |
OMIM:615673 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Respiratory distress, Death in childhood, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
Donnai-Barrow Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Umbilical hernia, Cong... |
OMIM:222448 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Dyspnea, Patent foramen ovale, Death in childhood, Hypertrophic cardiomyopathy |
OMIM:614582 |
Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Anteverted nares, Mi... |
OMIM:619135 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Bulbous nose, Sensorineural hearing impairment, Atrial septal defect, Hydrocephalu... |
OMIM:615219 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Spina bifida occulta, Atrial septal defect |
ORPHA:2475 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin... |
OMIM:615888 |
Glanzmann Thrombasthenia 2 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:619267 |
Autosomal Dominant Cutis Laxa |
|
Low-set ears, Delayed cranial suture closure, Dilatation of the ventricular cavity, Mitral regurg... |
ORPHA:90348 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hearing impairment, Cryptorchidism, Patent foramen ovale, Limb hypertonia, Atrial septal defect, ... |
OMIM:620327 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ... |
ORPHA:97290 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Carious teeth, Shallow acetabular fossae, Musc... |
OMIM:182250 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Upper limb undergrowth, Adrenal hypoplasia, Pulmonary hypoplasia |
OMIM:613124 |
Geroderma Osteodysplasticum |
|
Platyspondyly, Hypoplasia of the maxilla, Progeroid facial appearance, Premature skin wrinkling, ... |
OMIM:231070 |
Cornelia De Lange Syndrome 1 |
|
Low-set ears, Cutis marmorata, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ven... |
OMIM:122470 |
Malaria |
|
Respiratory distress, Anemia, Thrombocytopenia |
ORPHA:673 |
Pontocerebellar Hypoplasia, Type 8 |
|
Low-set ears, Arthrogryposis multiplex congenita, Talipes valgus, Anteverted nares, Patent forame... |
OMIM:614961 |
Vici Syndrome |
|
Low-set ears, Depressed nasal bridge, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart fa... |
OMIM:242840 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the musculature, Camptodactyly of finger, Tricuspid regu... |
ORPHA:1101 |
Neurofaciodigitorenal Syndrome |
|
Low-set ears, Hypoplasia of the premaxilla, Atresia of the external auditory canal, Prominent nas... |
ORPHA:2673 |
Lymphatic Malformation 13 |
|
Depressed nasal bridge, Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary art... |
OMIM:620244 |
Witteveen-Kolk Syndrome |
|
Flared nostrils, Small hand, Hearing impairment, Hyperplasia of the maxilla, Glue ear, Congenital... |
OMIM:613406 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgitation, Anteverted nares, Posterio... |
ORPHA:228396 |
Hajdu-Cheney Syndrome |
|
Low-set ears, Micrognathia, Genu valgum, Cryptorchidism, Ventricular septal defect, Absent fronta... |
OMIM:102500 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis |
ORPHA:922 |
Kapur-Toriello Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Tetralogy of Fallot, Bulbous nose, Ventricu... |
ORPHA:2328 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Smal... |
OMIM:257850 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, Impaired growth-hormone response to... |
OMIM:301068 |
Degcags Syndrome |
|
Low-set ears, Hearing impairment, Premature graying of hair, Hepatosplenomegaly, Micrognathia, Pa... |
OMIM:619488 |
Pediatric-Onset Graves Disease |
|
Graves disease, Sinus tachycardia, Congestive heart failure, Goiter, Puberty and gonadal disorder... |
ORPHA:525731 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Bruising susceptibility, Horseshoe kidney, Pancytopenia, Cryptorchid... |
OMIM:227645 |
Fryns Syndrome |
|
Low-set ears, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, A... |
OMIM:229850 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Horseshoe kidney, Abnormal heart morphology, Pancytopenia, Cryptorchidis... |
OMIM:227650 |
Stickler Syndrome |
|
Hearing impairment, Micrognathia, Genu valgum, Mitral valve prolapse, Sensorineural hearing impai... |
ORPHA:828 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ri... |
ORPHA:66637 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Small for gestational age, Abnormal medullary pyramid morphology,... |
ORPHA:79243 |
Distal Deletion 6P |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Underdeveloped nasal alae, Anteverted n... |
ORPHA:96125 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Low-set ears, Depressed nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Valv... |
OMIM:300707 |
Eec Syndrome |
|
Choanal atresia, Carious teeth, Abnormal dental enamel morphology, Dry skin, Decreased response t... |
ORPHA:1896 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Retrognathia, Respiratory distress, Micrognathia, Dyspnea |
ORPHA:2707 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... |
ORPHA:138 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... |
ORPHA:254864 |
16P13.11 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Atresia of the external auditory canal, Camptodactyly of fi... |
ORPHA:261236 |
Meier-Gorlin Syndrome 4 |
|
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Emphysema, Breast hypoplasia, Micrognat... |
OMIM:613804 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, ... |
OMIM:600460 |
Frontorhiny |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorl... |
ORPHA:391474 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension,... |
OMIM:620365 |
Renpenning Syndrome 1 |
|
Wide nasal bridge, Joint contracture of the hand, Scoliosis, Cupped ear, Hearing impairment, Syno... |
OMIM:309500 |
Hypophosphatasia |
|
Emphysema, Failure to thrive in infancy, Anemia |
ORPHA:436 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Supernumerary nipple, Tetralogy of Fallot, Cutis m... |
OMIM:100300 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Small for gestational age, Methylmalonic aciduria, Cystathioninuria, Failure to t... |
OMIM:277380 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Respiratory distress, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Wide nasal bridge, Subdural hemorrhage, Long ear, Osteoarthritis, Mandibular prognathia, Skeletal... |
OMIM:619714 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Subdural hemorrhage, Vertigo, Retinal hemorrhage, Communicating hydrocephalus |
ORPHA:25 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Death i... |
OMIM:301108 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Micrognathia, Kyphoscoliosis, Ventricular septal defect, Cubitus valgus |
OMIM:618348 |
Carpenter Syndrome 2 |
|
Low-set ears, Carious teeth, Supernumerary nipple, Narrow naris, Cryptorchidism, Sensorineural he... |
OMIM:614976 |
Orofaciodigital Syndrome V |
|
Low-set ears, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ventricular septal de... |
OMIM:174300 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childhood... |
OMIM:610505 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hearing impairment, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventri... |
OMIM:312870 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema, Increased proportion of exhausted T cells |
OMIM:618307 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Respiratory distress, Stroke-like episode, Pulmonary arterial hypertensi... |
OMIM:619272 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Narrow nasal bridge, Sensorineural hearing impairment, Flexion contracture,... |
ORPHA:544503 |
Fraser Syndrome 1 |
|
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... |
OMIM:219000 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set ears, Wide nasal base, Small hand, Flared nostrils, Hearing impairment, Thoracolumbar sco... |
ORPHA:480880 |
Gitelman Syndrome |
|
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Ventricular fibrillation, Prolong... |
ORPHA:358 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormality of the sphenoid sinus, Micrognathia, Genu valgum, Mitral regurgitation, Mitral valve ... |
ORPHA:363700 |
Peters-Plus Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Ventricular septal defect, Limite... |
OMIM:261540 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Hearing impairment, Micrognathia, Cryptorchidism, Atrial septal defect... |
OMIM:609945 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Respiratory distress, Neonatal death, Jaundice, Abnormal pinna morphology... |
OMIM:231680 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Unicoronal syn... |
OMIM:616300 |
Simpson-Golabi-Behmel Syndrome |
|
Abnormal helix morphology, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... |
ORPHA:373 |
Frontometaphyseal Dysplasia 2 |
|
Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural hearing impai... |
OMIM:617137 |
Bartsocas-Papas Syndrome 1 |
|
Low-set ears, Hypoplastic scapulae, Dry skin, Micrognathia, Absent radius, Short metacarpal, Shor... |
OMIM:263650 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia of the external auditory can... |
ORPHA:245 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Low-set ears, Optic atrophy, Choanal atresia, Annular pancreas, Bulbous nose, Anteverted nares, M... |
OMIM:616975 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Ventricular septal def... |
ORPHA:2308 |
Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Optic atrophy, Abnormal vertebral morphology, Kyphosis, Hearing impairment, Sh... |
ORPHA:280 |
Hermansky-Pudlak Syndrome 3 |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... |
OMIM:614072 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Depressed nasal bridge, Ectopic anterior pituitary gland, Sandwich appearance of vertebral bodies... |
OMIM:620558 |
Fetal Akinesia Deformation Sequence |
|
Depressed nasal bridge, Pulmonary hypoplasia, Camptodactyly of finger, Pterygium, Micrognathia, M... |
ORPHA:994 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Retinal hemorrhage, Raynaud phe... |
OMIM:611773 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia... |
OMIM:612528 |
Alfadhel Syndrome |
|
Low-set ears, Bulbous nose, Nasal flaring, Retrognathia |
OMIM:620655 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Broad nasal tip, Pancreatic lymphangiectasis, Hepatosplenomegaly, Micrognathia, Cry... |
ORPHA:1655 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Wide nasal bridge, Bulbous nose, Cryptorchidism, Sensorineural hearing i... |
ORPHA:250989 |
Meier-Gorlin Syndrome 3 |
|
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Recurrent pneumonia, Patellar hypopla... |
OMIM:613803 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Small hand, Carious teeth, Genu valgum, Mitral regurgitation, Mitral valve prolapse... |
OMIM:615873 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ve... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ve... |
ORPHA:353277 |
Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Aplastic clavicle, Rhizomelia, Depressed nasal bridge, Natal tooth, Synostosis of j... |
ORPHA:50945 |
Microcephaly-Micromelia Syndrome |
|
Low-set ears, Absent thumb, Short tibia, Micromelia, Micrognathia, Wide nose, Humeroradial synost... |
OMIM:251230 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Low-set ears, Hematochezia, Peripheral pulmonary artery stenosis, Depressed nasal bridge, Recurre... |
OMIM:619575 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Sensorineural hearing impairment... |
ORPHA:457351 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration |
ORPHA:122 |
Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Micromelia, Persisten... |
ORPHA:1798 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Poor wound healing, Bruising ... |
OMIM:300989 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears... |
ORPHA:1486 |
Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Choanal atresia, Conductive hearing impairment, Short 1st metacar... |
ORPHA:949 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... |
OMIM:178600 |
Coccidioidomycosis |
|
Pneumonia, Vasculitis, Vasospasm, Hearing impairment, Respiratory distress, Exudative pleural eff... |
ORPHA:228123 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... |
OMIM:611134 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Bulbous nose, Anteverted nares, Congenital diaphragmatic hernia, Ventricular... |
ORPHA:1780 |
Attenuated Chédiak-Higashi Syndrome |
|
Gingival bleeding, Epistaxis, Skin ulcer, Bruising susceptibility, Recurrent respiratory infections |
ORPHA:352723 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Erythema, Bruising susceptibility, Vertigo, Leukocytosis, Splenomegaly, Orchitis, Myo... |
ORPHA:32960 |
Osteoglophonic Dysplasia |
|
Low-set ears, Hypoplastic scapulae, Cryptorchidism, Short foot, Short metacarpal, Short nose, Cho... |
OMIM:166250 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Low-set ears, Microretrognathia, Short finger, Dilatation of the ventricular cavity, Decreased te... |
ORPHA:459070 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripheral nerve morpho... |
ORPHA:88628 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Hyperplasia of the maxilla, Prominent nose, Genu valgum, Joint swelling, Ky... |
ORPHA:2976 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... |
ORPHA:565612 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Micrognathia, Neonatal death, Widening of... |
OMIM:253310 |
Meckel Syndrome, Type 1 |
|
Low-set ears, Accessory spleen, Natal tooth, Occipital encephalocele, Camptodactyly of finger, En... |
OMIM:249000 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Abnormal capillary physiology, Angioedema |
ORPHA:100057 |
Atelosteogenesis Type I |
|
Low-set ears, Laryngotracheal stenosis, Rhizomelia, Pulmonary hypoplasia, Joint dislocation, Abno... |
ORPHA:1190 |
Netherton Syndrome |
|
Aminoaciduria, Emphysema, Dry skin, Hydronephrosis, Recurrent respiratory infections, Ectopic kid... |
ORPHA:634 |
Rin2 Syndrome |
|
Bruising susceptibility, Umbilical hernia, Redundant skin, Cryptorchidism, Aortic aneurysm, Scoli... |
ORPHA:217335 |
Cleft Velum |
|
Recurrent otitis media, Hypoplasia of the maxilla, Conductive hearing impairment, Aspiration pneu... |
ORPHA:99772 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anterior p... |
ORPHA:466791 |
Pfeiffer Syndrome |
|
Choanal atresia, Shortening of all middle phalanges of the fingers, Hypoplasia of the maxilla, De... |
OMIM:101600 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Patent du... |
OMIM:267010 |
Inhalational Anthrax |
|
Abnormal sweat gland morphology, Hypotension, Respiratory distress, Internal hemorrhage, Dyspnea |
ORPHA:247257 |
Fibrous Dysplasia Of Bone |
|
Abnormal facial skeleton morphology, Precocious puberty in females, Hearing impairment, Abnormal ... |
ORPHA:249 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Recurrent otitis media, Micrognathia, Cryptorchidism, Sensorineural hearing impairm... |
OMIM:619841 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Pallor, Cardiac conduction abnormal... |
ORPHA:2131 |
Mowat-Wilson Syndrome |
|
Wide nasal bridge, Abnormal enteric ganglion morphology, Cupped ear, Delayed eruption of teeth, S... |
OMIM:235730 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Stroke, Raynaud ph... |
OMIM:192315 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Malar flattening, Sensorineural hearing impairment, Atrial septal defect, Concave nasal ridge, Pa... |
OMIM:602482 |
Floating-Harbor Syndrome |
|
Low-set ears, Carious teeth, Recurrent otitis media, Cryptorchidism, Atrial septal defect, Disloc... |
OMIM:136140 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Aganglionic megacolon, Atri... |
OMIM:614207 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Micrognathia, Atrial septal defect |
OMIM:614526 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Concave nasal ridge, Decreased response to growth hormone stimulation test,... |
OMIM:245590 |
Restrictive Dermopathy 2 |
|
Hypoplastic facial bones, Microretrognathia, Respiratory distress, Cyanosis, Short clavicles, Con... |
OMIM:619793 |
Raine Syndrome |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Natal tooth, Arthrogryposis multiplex cong... |
OMIM:259775 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... |
ORPHA:99228 |
Monosomy X |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... |
ORPHA:99226 |
Turner Syndrome |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Gastroi... |
ORPHA:881 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysp... |
OMIM:265000 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Supernumerary nipple, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, Scoliosis |
OMIM:617635 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Elbow dislocation, Genu valgu... |
OMIM:143095 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Lymphopenia, Micrognathia, Patent ductus arteriosus after premature birt... |
OMIM:618460 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Choanal atresia, Small hand, Semilobar holoprosencephaly, Scoliosis, Retrognathia, Narrow nose, A... |
OMIM:301044 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Short metatarsal, Convex nasal ridge |
ORPHA:1540 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Low-set ears, Wide nasal bridge, Broad nasal tip, Cupped ear, Dermatographic urticaria, Scoliosis... |
OMIM:619480 |
Stt3B-Cdg |
|
Respiratory distress, Optic atrophy, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
Tbck-Related Intellectual Disability Syndrome |
|
Wide nasal bridge, Skeletal muscle atrophy, Decreased response to growth hormone stimulation test... |
ORPHA:488632 |
Spondylo-Ocular Syndrome |
|
Low-set ears, Platyspondyly, Abnormal antihelix morphology, Ventricular septal defect, Facial hyp... |
ORPHA:85194 |
Cockayne Syndrome |
|
Carious teeth, Absence of pubertal development, Reduced subcutaneous adipose tissue, Cryptorchidi... |
ORPHA:191 |
Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Bronchiectasis, Skin ulcer, Emphysema, Recurrent bronchitis, Chro... |
OMIM:604571 |
Chime Syndrome |
|
Erythema, Abnormality of the outer ear, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic... |
ORPHA:3474 |
Phelan-Mcdermid Syndrome |
|
Wide nasal bridge, Dental malocclusion, Hearing impairment, Bulbous nose, Micrognathia, Malar fla... |
OMIM:606232 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Short 1st metacarpal, Central hypothyroidism, Tetralogy of Fallot wi... |
OMIM:620305 |
Chitayat Syndrome |
|
Depressed nasal bridge, Respiratory distress, Anteverted nares, Short columella, Abnormal pulmona... |
OMIM:617180 |
Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aganglion... |
ORPHA:2473 |
Trichothiodystrophy |
|
Carious teeth, Dry skin, Cryptorchidism, Ventricular septal defect, Neutropenia, Bilateral sensor... |
ORPHA:33364 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cupped ear |
OMIM:167730 |
Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... |
ORPHA:79430 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Chylothorax, Retrognathia, Micromelia, Abnormal form of the vertebral bod... |
ORPHA:3015 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Low-set ears, Recurrent otitis media, Dry skin, Bulbous nose, Short proximal phalanx of the 5th f... |
ORPHA:261323 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Carney Complex, Type 1 |
|
Pituitary adenoma, Congestive heart failure, Schwannoma, Pheochromocytoma, Thyroid carcinoma, Thy... |
OMIM:160980 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/hypoplasia of the humerus, Congenital diaphragmatic her... |
ORPHA:2141 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith... |
OMIM:615474 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Short hallux, Small thenar eminence, Mes... |
OMIM:268305 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed eruptio... |
OMIM:119600 |
Trisomy 18 |
|
Choanal atresia, Microretrognathia, Camptodactyly of finger, Low-set, posteriorly rotated ears, C... |
ORPHA:3380 |
Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Poor wound healing, Bruising susceptibility, Striae distensae, Vesicou... |
OMIM:606408 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Splenomegaly, Short ribs, Ventricular septal defect, Hydrocephalus |
OMIM:615630 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Kyphosis, Short toe, Prom... |
ORPHA:464311 |
Sarcoidosis, Susceptibility To, 1 |
|
Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphys... |
OMIM:181000 |
Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Depre... |
OMIM:252100 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Low-set ears, Type I diabetes mellitus, Bilateral choanal atresia, Underdeveloped nasal alae, Tet... |
OMIM:619525 |
Liver Disease, Severe Congenital |
|
Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, Ventricular septal de... |
OMIM:619991 |
Kury-Isidor Syndrome |
|
Low-set ears, Recurrent otitis media, Anteverted nares, Ventricular septal defect, Scoliosis |
OMIM:619762 |
Marshall Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic... |
ORPHA:560 |
Bangstad Syndrome |
|
Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Convex nasal ridge, Prim... |
OMIM:210740 |
Branchiootic Syndrome |
|
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... |
ORPHA:52429 |
Cerebrocostomandibular Syndrome |
|
Low-set ears, Congenital hip dislocation, Carious teeth, Conductive hearing impairment, Elbow fle... |
OMIM:117650 |
Short Stature And Facioauriculothoracic Malformations |
|
Low-set ears, Cupped ear, Ventricular septal defect, Overfolded helix, Microtia |
OMIM:609654 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... |
ORPHA:66529 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... |
OMIM:164310 |
Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sc... |
OMIM:619229 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Retrognathia, Micrognathia, Cryptorchidism, Ventricular septal defect, Skeletal muscl... |
OMIM:617164 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Wide nasal bridge, Umbilical hernia, Prominent nose, Malar flattening, Abnormal mitral valve morp... |
ORPHA:1292 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Graves Disease |
|
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Increased circul... |
OMIM:275000 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Hearing impairment, Decreased n... |
OMIM:129400 |
Rhabdoid Tumor |
|
Internal hemorrhage, Thrombocytopenia, Lymphadenopathy, Anemia, Hypertension |
ORPHA:69077 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertens... |
OMIM:616028 |
Ellis-Van Creveld Syndrome |
|
Natal tooth, Delayed eruption of teeth, Acetabular spurs, Genu valgum, Cryptorchidism, Short ribs... |
OMIM:225500 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Low-set ears, Large earlobe, Prominent nose, Anteverted nares, Knee flexion contracture, Patent f... |
OMIM:618076 |
Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Dentinogenesis imperfecta, Recurrent pneumonia, Rhizomelia, Micromelia, Respirator... |
OMIM:613848 |
X Small Rings |
|
Aortic root aneurysm, Upper limb undergrowth, Anteverted nares, Mitral stenosis, Lower limb under... |
ORPHA:96201 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Carpal synostosis, Micrognathia, Genu valgum, Mitral regurgitation, Ventricular septal defect, Bi... |
OMIM:271640 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Abnormal pinna m... |
OMIM:147800 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Depressed nasal bridge, Bulbous nose, Cryptorchidism, Ventricular septal defect, Dy... |
OMIM:619103 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Low-set ears, Abnormality of the outer ear, Small hand, Dental malocclusion, Decreased testicular... |
ORPHA:251028 |
Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Subcutaneous calcification, Insulin-resistant ... |
ORPHA:79474 |
Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Rudimentary fibula, Micrognathia, Cryptorchidism, Short hallux, Atrial septal defec... |
OMIM:304120 |
Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Anemic pallor, Neutropenia, Absen... |
OMIM:227646 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... |
OMIM:128980 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Kyphosis, Hypoplasia of the zygomatic bone, Rudimentary fibula, Abnormal lu... |
ORPHA:958 |
Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Aplastic clavicle, Microti... |
ORPHA:2554 |
Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hypoplasia of the maxilla, Carious teeth, Abnormality of neutrophils... |
ORPHA:1775 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Low-set ears, Anteverted nares, Amelia, Congenital diaphragmatic hernia, Abnormality of the diaph... |
OMIM:601163 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Acromesomelia, Kyphosis, Breast hypoplasia, Narrow n... |
ORPHA:464306 |
Nocardiosis |
|
Pneumonia, Lymphadenitis, Respiratory distress, Abnormal heart valve morphology, Emphysema, Pleur... |
ORPHA:31204 |
Retinoblastoma |
|
Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leiomyosar... |
ORPHA:790 |
Barber-Say Syndrome |
|
Low-set ears, Hearing impairment, Dry skin, Micrognathia, Cryptorchidism, Wide nose, Hypoplasia o... |
OMIM:209885 |
Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Respiratory distress... |
OMIM:618733 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Low-set ears, Popliteal pterygium, Hearing impairment, Long nasal bridge, Elbow contracture, Elbo... |
OMIM:178110 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Dilated cardiomyopathy, Hypertro... |
ORPHA:255210 |
Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Carious teeth, Cryptorchidism, Mitral valve prolapse, Excessi... |
ORPHA:286 |
Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductive hearing imp... |
OMIM:113650 |
Incontinentia Pigmenti |
|
Erythema, Delayed eruption of teeth, Skin ulcer, Congestive heart failure, Abnormal dental enamel... |
ORPHA:464 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L... |
ORPHA:86839 |
Cornelia De Lange Syndrome 6 |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Short 1st metacarpal, Atriovent... |
OMIM:620568 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Thyroid Lymphoma |
|
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenop... |
ORPHA:97285 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Thoracolumbar kyphoscoliosis, Retrognathia, Prominent nasal bridge, Sensorineural h... |
OMIM:212066 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotated ears, Shor... |
ORPHA:1770 |
Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Redunda... |
ORPHA:782 |
Distal Deletion 12Q |
|
Low-set ears, Congenital hypertrophy of left ventricle, Bilateral conductive hearing impairment, ... |
ORPHA:96149 |
Pendred Syndrome |
|
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... |
OMIM:274600 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Abnormal earlobe ... |
ORPHA:96191 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Microretrognathia, Atrioventricular canal defect, Breast ap... |
ORPHA:276413 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Aplastic clavicle, Depressed nasal bridge, Micromelia, Occipital meningocele, Conge... |
OMIM:616546 |
Platyspondylic Dysplasia, Torrance Type |
|
Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Depressed nasal bridge, Platy... |
ORPHA:85166 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Depressed nasal bridge, Acetabular spurs, Short ribs, Ventricular septal defect, Pancreatic fibro... |
OMIM:615503 |
Proboscis Lateralis |
|
Abnormality of the maxillary sinus, Choanal atresia, Abnormal facial skeleton morphology, Optic d... |
ORPHA:141099 |
Van Den Ende-Gupta Syndrome |
|
Joint contracture of the hand, Hypoplastic scapulae, Micrognathia, Dislocated radial head, Hypopl... |
OMIM:600920 |
Achondrogenesis Type 2 |
|
Micromelia, Hearing impairment, Absent vertebral body mineralization, Short ribs, Delayed vertebr... |
ORPHA:93296 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Low-set ears, Short distal phalanx of finger, Broad columella, Underdeveloped nasal alae, Microgn... |
OMIM:250410 |
Faciocardiomelic Syndrome |
|
Depressed nasal bridge, Dental malocclusion, Hyperplasia of the maxilla, Anteverted nares, Microg... |
OMIM:612731 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... |
OMIM:274300 |
Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Depressed nasal ridge,... |
ORPHA:2671 |
Meier-Gorlin Syndrome 6 |
|
Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Conductive hearing impairment, ... |
OMIM:616835 |
Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Ventricular septal defect, Acute my... |
OMIM:610832 |
Atelosteogenesis Type Ii |
|
Low-set ears, Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, G... |
ORPHA:56304 |
Pfeiffer Syndrome Type 2 |
|
Low-set ears, Choanal atresia, Small hand, Depressed nasal bridge, Atresia of the external audito... |
ORPHA:93259 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Trichinellosis |
|
Central retinal artery occlusion, Vertigo, Tinnitus, Trismus, Retinal hemorrhage, Facial palsy |
ORPHA:863 |
Pallister-Killian Syndrome |
|
Aortic valve stenosis, Low-set ears, Small hand, Hearing impairment, Supernumerary nipple, Delaye... |
OMIM:601803 |
Loeys-Dietz Syndrome |
|
Arterial dissection, Abnormal bleeding, Aortic dissection, Bruising susceptibility, Arterial tort... |
ORPHA:60030 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Optic neuropathy, Calcifi... |
ORPHA:391665 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Arteria lusoria, Supernumerary nipple, Delayed cranial suture closure, Overfolded h... |
OMIM:618653 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Panacinar emphysema, Dyspnea, Bronchiectasis |
OMIM:613490 |
Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Conductive hearing impairment, Peg-shaped maxilla... |
ORPHA:199306 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Anteverted n... |
ORPHA:438216 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Butterfly vertebrae, Cryptorchidism, Sensorineural hearing impairment, Ventr... |
OMIM:206900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Hearing impairm... |
OMIM:183900 |
Williams-Beuren Syndrome |
|
Premature graying of hair, Recurrent otitis media, Mitral regurgitation, Mitral valve prolapse, V... |
OMIM:194050 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Situs inversus totalis, Hypertension, Pulmonary hypoplasia |
OMIM:602088 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Bruising susceptibility, Short femoral neck, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... |
OMIM:147750 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Small hand, Central hypothyroidism, Recurrent respirat... |
ORPHA:398069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Bruising susceptibility, Increased circulating cortisol level, Neuroendocrine ... |
ORPHA:189427 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Generalized limb muscle atrophy, Talipes valgus, Narrow nose, Type II diabe... |
OMIM:618891 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Wilson Disease |
|
Bruising susceptibility, Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thr... |
ORPHA:905 |
Coffin-Siris Syndrome 1 |
|
Low-set ears, Hearing impairment, Cutis marmorata, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:135900 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory canal, Myelomeni... |
ORPHA:1393 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Hyphema |
ORPHA:158000 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Respiratory distress, Transient ischemic attack, Reticulocytos... |
OMIM:274150 |
Cerebellofaciodental Syndrome |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Genu valgu... |
OMIM:616202 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Abnormality of the spleen, Cryptorchidism, Myopathy, Sensorineura... |
ORPHA:1606 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head |
ORPHA:2975 |
Cryptococcosis |
|
Pneumonia, Abnormality of the outer ear, Respiratory distress, Nodular pattern on pulmonary HRCT,... |
ORPHA:1546 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Small hand, Ventricular septal defect, Shortened PR interval, Ventricular septal h... |
OMIM:614947 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, ... |
OMIM:616229 |
Chédiak-Higashi Syndrome |
|
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Cut... |
ORPHA:167 |
Nablus Mask-Like Facial Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Joint contracture of the hand, Depres... |
OMIM:608156 |
Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... |
ORPHA:449400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Tricuspid regurgitation, Ventricular septal defect, Short ribs, Atrial septal defe... |
OMIM:263520 |
Isolated Arrhinia |
|
Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplasia/Hypoplasia o... |
ORPHA:1134 |
Severe Congenital Nemaline Myopathy |
|
Low-set ears, Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber pred... |
ORPHA:171430 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypot... |
ORPHA:83471 |
Alstrom Syndrome |
|
Recurrent pneumonia, Dilated cardiomyopathy, Scoliosis, Progressive sensorineural hearing impairm... |
OMIM:203800 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... |
OMIM:619573 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear... |
ORPHA:2399 |
Incontinentia Pigmenti |
|
Optic atrophy, Erythema, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast ... |
OMIM:308300 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:254534 |
Proteus Syndrome |
|
Low-set ears, Pulmonary cyst, Carious teeth, Arteriovenous malformation, Decreased muscle mass, M... |
ORPHA:744 |
Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Leukocytosis, Arr... |
ORPHA:31824 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Recurrent pneumonia, Failure to thrive, Patent foramen ovale |
OMIM:619179 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Bruising susceptibility, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyp... |
OMIM:615830 |
Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... |
ORPHA:79318 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Elbow dislocation, Mitral valve prolapse, Arrhythmia, Tendon rupture, Hip d... |
ORPHA:285 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Depressed nasal bridge, Hearing impairment, Elbow flexion contracture, Anteverted nares, Microgna... |
OMIM:300868 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Leukocytosis, Cyanosis, Pneumothorax, Neutrophilia, Dyspnea |
ORPHA:1302 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Jaundice, Megaloblastic anemia, Neutropenia |
OMIM:250940 |
Neuroblastoma |
|
Elevated circulating catecholamine level, Abnormal bleeding, Respiratory distress, Anemic pallor,... |
ORPHA:635 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Hyphema |
ORPHA:209959 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... |
ORPHA:652 |
Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Acute kidne... |
ORPHA:90062 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone... |
ORPHA:3044 |
Renal Hypodysplasia/Aplasia 1 |
|
Low-set ears, Hypertension, Retrognathia, Pulmonary hypoplasia |
OMIM:191830 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea, Diabetes mellitus, Acute infectious pneumonia |
ORPHA:140896 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta, Facial palsy |
OMIM:107550 |
Elsahy-Waters Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Bifid nasal tip, Dental malocclusion,... |
OMIM:211380 |
Limb Body Wall Complex |
|
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Progressive congenital scoliosis, Abn... |
ORPHA:2369 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Polysplenia, Prof... |
OMIM:619418 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage, Retinal arteriolar tortuosity |
OMIM:180000 |
Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Hearing impairment, Cryptorchidism, Hip... |
ORPHA:821 |
Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Respiratory distress, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:251110 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Splenom... |
OMIM:139090 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Type I diabetes mellitus, Hypoglycosylation of alpha-dystroglycan, Progress... |
OMIM:620166 |
Renal Agenesis |
|
Unilateral renal agenesis, Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Pro... |
ORPHA:411709 |
Chromosome 15Q25 Deletion Syndrome |
|
Low-set ears, Polysplenia, Coronary artery fistula, Congenital diaphragmatic hernia, Cryptorchidi... |
OMIM:614294 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Low-set ears, Depressed nasal ridge, Tetralogy of Fallot, Anteverted nares,... |
OMIM:222470 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus, Ectopia cord... |
OMIM:313850 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility |
OMIM:262850 |
Oromandibular Dystonia |
|
Abnormality of the nose, Abnormality of the temporomandibular joint, Abnormal mandible morphology... |
ORPHA:93958 |
Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Retrognathia, Hearing impairment, Micrognathia, Cryptorchidism, Abnormal ... |
ORPHA:1724 |
Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Aplastic clavicle, Hearing impairment,... |
OMIM:620099 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Type I diabetes mellitus, Respiratory distress, Interstitial pneumonitis, Autoimmune h... |
ORPHA:37042 |
Plague |
|
Hypotension, Abnormal bleeding, Hearing impairment, Skin ulcer, Lymphadenitis, Respiratory distre... |
ORPHA:707 |
Monosomy 22 |
|
Contractures of the large joints, Retrognathia, Low-set, posteriorly rotated ears, Schwannoma, He... |
ORPHA:96123 |
Mercury Poisoning |
|
Hypotension, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachycardia, Hypertension |
ORPHA:330021 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Generalized amyotrophy, Congenital hip dislocation, Decreased muscle mass, Respiratory distress, ... |
OMIM:271225 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Low-set ears, Depressed nasal bridge, Ventricular septal defect |
OMIM:618325 |
Meier-Gorlin Syndrome 5 |
|
Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Micrognathia, Patellar aplasia, Crypt... |
OMIM:613805 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Congenital diaphragmatic hern... |
ORPHA:250999 |
Fraser Syndrome 2 |
|
Ureteral agenesis, Unilateral renal agenesis, Renal hypoplasia, Hypoplasia of the thymus |
OMIM:617666 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased ... |
ORPHA:101096 |
Congenital Disorder Of Deglycosylation 1 |
|
Low-set ears, Small hand, Dilation of Virchow-Robin spaces, Recurrent respiratory infections, Res... |
OMIM:615273 |
Genitopatellar Syndrome |
|
Wide nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Hearing impairment, Pro... |
OMIM:606170 |
Hepatitis Delta |
|
Jaundice, Abnormal bleeding, Bruising susceptibility |
ORPHA:402823 |
Vacterl With Hydrocephalus |
|
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Retrognathia, Abnorm... |
ORPHA:3412 |
Orofaciodigital Syndrome Type 4 |
|
Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Abnormal joint morph... |
ORPHA:2753 |
Japanese Encephalitis |
|
Neutrophilia, Genu recurvatum, Decreased motor nerve conduction velocity, Skeletal muscle atrophy... |
ORPHA:79139 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmo... |
ORPHA:2140 |
Central Retinal Vein Occlusion |
|
Papilledema, Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
Ethylene Glycol Poisoning |
|
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Cyanosis, Episodic... |
ORPHA:31826 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ... |
ORPHA:348 |
Trichohepatoneurodevelopmental Syndrome |
|
Low-set ears, Cholelithiasis, Hip dislocation, Recurrent otitis media, Bulbous nose, Splenomegaly... |
OMIM:618268 |
Maffucci Syndrome |
|
Pituitary adenoma, Multiple enchondromatosis, Goiter, Neoplasm of the parathyroid gland, Parathyr... |
ORPHA:163634 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Dilated cardiomyopathy, Respiratory distress, Laryngeal stenosis, Anemia, Pneumothorax... |
ORPHA:79404 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Splenomegaly, Lower limb undergrowth, Aqueductal stenosis, Abnormally ossified vert... |
ORPHA:3035 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Depressed nasal bridge, Conductive hearing impairment, Delayed eruption of teeth, Micrognathia, P... |
OMIM:300990 |
Biotinidase Deficiency |
|
Optic atrophy, Myelopathy, Hearing impairment, Respiratory distress, Apnea, Limb muscle weakness,... |
ORPHA:79241 |
Chromosome 13Q14 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Umbilical hernia, Supernumerary nipple, Bulbous nose, Micrognat... |
OMIM:613884 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Vertigo, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis |
ORPHA:37612 |
Hydrolethalus Syndrome 1 |
|
Low-set ears, Accessory spleen, Abnormal lung lobation, Upper limb undergrowth, Midline defect of... |
OMIM:236680 |
Marden-Walker Syndrome |
|
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal... |
ORPHA:2461 |
Leigh Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Abnormal pattern of respiratio... |
ORPHA:506 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Abnormal lung lobation, Horseshoe kidney, Abnorm... |
ORPHA:2538 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Skeletal muscle atrophy, Conductive hearing impairment, High-frequency sensorineu... |
OMIM:614557 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Hearing impairment, Increased circulating prolactin concent... |
ORPHA:562 |
Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Weight loss, Tubulointers... |
ORPHA:797 |
Thyroid Dyshormonogenesis 1 |
|
Goiter, Umbilical hernia, Dry skin, Hypothyroidism, Macroglossia |
OMIM:274400 |
Joubert Syndrome 21 |
|
Optic atrophy, Occipital encephalocele, Apnea, Megalopapilla, Chronic sinusitis, Sensorineural he... |
OMIM:615636 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Bruising susceptibility, Increased ci... |
OMIM:610489 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Craniofacial hyperostosis, Interrupted aortic arch, Abnormal cartilage mor... |
ORPHA:2396 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Interstitial emphysema, Kyphosis, Lymphopenia, Micrognathia, Knee flexion contract... |
OMIM:619708 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Micrognathia, Genu valgum, Cryptorchidism, Patellar dislocation, Chronic otitis me... |
ORPHA:534 |
Quebec Platelet Disorder |
|
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia |
OMIM:601709 |
Pseudoaminopterin Syndrome |
|
Hypoplasia of the antihelix, Synostosis of carpal bones, Short thumb, Talipes valgus, Low-set, po... |
ORPHA:221120 |
Choanal Atresia |
|
Nasal congestion, Respiratory distress, Subglottic stenosis, Cyanosis, Chronic sinusitis, Cranios... |
ORPHA:137914 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Platyspondyly, Short ribs, Neonatal death, Severe platyspondyly... |
OMIM:187600 |
Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Short 1st meta... |
ORPHA:2438 |
Opitz Gbbb Syndrome |
|
Low-set ears, Wide nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Ventricular ... |
OMIM:300000 |
Pfeiffer Syndrome Type 3 |
|
Low-set ears, Choanal atresia, Small hand, Depressed nasal bridge, Hearing impairment, Respirator... |
ORPHA:93260 |
Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Thrombocytopenia, Euthyroid goiter, Sensorineural he... |
ORPHA:3327 |
Pendred Syndrome |
|
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... |
ORPHA:705 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism, Hearing impairment |
OMIM:228355 |
Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Cryptorchidism, Missing ribs, Hypoplasti... |
ORPHA:3027 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Depressed nasal bridge, Progeroid facial appearance, Underdeveloped nasal alae, Delayed cranial s... |
OMIM:619127 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Hearing impairment, Short 5th toe, Cryptorchidism, Ventricular septal defe... |
ORPHA:268261 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Bruising susceptibility, Striae distensae, Decreased circul... |
OMIM:219080 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... |
OMIM:600791 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nasal bridge, Optic atrophy, Chylothorax, Skin ulcer, Dry skin, Anteverted nares, Pleural ef... |
ORPHA:2526 |
Gaucher Disease, Type Ii |
|
Bronchiolitis, Apnea, Splenomegaly, Death in infancy, Trismus, Thrombocytopenia, Anemia, Recurren... |
OMIM:230900 |
Bor Syndrome |
|
Atresia of the external auditory canal, Retrognathia, Hearing impairment, Branchial cyst, Enlarge... |
ORPHA:107 |
X-Linked Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Umbilical hernia |
ORPHA:75497 |
Saethre-Chotzen Syndrome |
|
Low-set ears, Absent first metatarsal, Hypoplasia of the maxilla, Lambdoidal craniosynostosis, Co... |
OMIM:101400 |
Achondrogenesis, Type Ia |
|
Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Hypoplastic nasal bridge, Unossified ... |
OMIM:200600 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Cleft mand... |
OMIM:608670 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Low-set ears, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular sept... |
OMIM:607721 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Protruding ear, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:611783 |
Yunis-Varon Syndrome |
|
Low-set ears, Hypoplastic scapulae, Aspiration pneumonia, Micrognathia, Cryptorchidism, Anterior ... |
OMIM:216340 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Congenital contracture, Chylothorax, Thymus hyperplasia, Microg... |
OMIM:619036 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Short 1st metacarpal, Abnor... |
OMIM:269150 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Knee flexion contracture, Patent ductus arteriosus after premat... |
OMIM:620454 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Persistence of hemoglobin F, Respiratory distress, Pancytopenia, Acute myelo... |
OMIM:260400 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Carious teeth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Lon... |
OMIM:619522 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Rhabdomyolysis, Hyperthyroidism, Tachycardia |
OMIM:188580 |
Stüve-Wiedemann Syndrome |
|
Micromelia, Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, Genu... |
ORPHA:3206 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:617907 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis, Goiter |
OMIM:617175 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Goiter, Thrombocytopenia, Sensorineural hearing impairment |
OMIM:274240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Depressed nasal bridge, Rhizomelia, Short toe, Short finger, 11 pairs of ribs, Red... |
OMIM:250220 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Proximal amyotrophy, Parathyroid adenoma, Paraganglioma of h... |
ORPHA:653 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchitis, Emphysema, Jaundice, Nephrotic syndrome, Bronchiectasis |
ORPHA:60 |
Microlissencephaly-Micromelia Syndrome |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, Respiratory ... |
ORPHA:50810 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Sensorineural hea... |
OMIM:194190 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Coronal craniosyn... |
OMIM:614188 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption... |
OMIM:300952 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Low-set ears, Accessory spleen, Wide nasal bridge, Dry skin, Depressed nasal tip, Ventricular sep... |
OMIM:619306 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... |
OMIM:610475 |
Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Bruising susceptibility, Mitral valve prolapse, Sensorineural hear... |
ORPHA:90354 |
Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Breast aplasia, Absent hand, Abnormality... |
ORPHA:3138 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... |
OMIM:214500 |
Angelman Syndrome |
|
Macroglossia, Hypoplasia of the maxilla, Scoliosis, Mandibular prognathia |
OMIM:105830 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration,... |
OMIM:613239 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hearing impairment, Peripheral demyelination, Genu valgum, Ventricular septal defect, Bicuspid ao... |
OMIM:619475 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Cupped ear, Abnormal heart morphology, Right aortic arch, Cryptorchidism, Kyphoscoliosis, Madelun... |
OMIM:301111 |
Branchioskeletogenital Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Absent nipple, Broad nasal tip,... |
ORPHA:1299 |
Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcom... |
OMIM:180295 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Gingival bleeding, Poor wound healing, Bruising susceptibility, Joint dislocation, Umbilical hern... |
OMIM:130080 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Polycystic ovaries, Tubulointerstitial fibrosis, Chronic ... |
ORPHA:79259 |
Autosomal Recessive Polycystic Kidney Disease |
|
Low-set ears, Depressed nasal ridge, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recur... |
ORPHA:731 |
Cog8-Cdg |
|
Chronic axonal neuropathy, Prolonged prothrombin time, Skeletal muscle atrophy, Spontaneous hemat... |
ORPHA:95428 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple, Periorbital wrinkles, Underdeve... |
OMIM:305100 |
Cornelia De Lange Syndrome |
|
Small hand, Atresia of the external auditory canal, Elbow dislocation, Cutis marmorata, Micrognat... |
ORPHA:199 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
Ascher Syndrome |
|
Hypothyroidism, Wide nose, Goiter |
ORPHA:1253 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Poland Syndrome |
|
Abnormality of the outer ear, Small hand, Acute leukemia, Aplasia/Hypoplasia of the sternum, Cong... |
ORPHA:2911 |
Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... |
OMIM:609166 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent upper respiratory tract infections, Hip dislocation, Hearing impairment, Umbilical hern... |
OMIM:308205 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Hearing impairment, Abnormal form of the vertebral bodies, Abnormal ear morphology... |
ORPHA:3109 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Semilob... |
OMIM:129900 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Low-set ears, Hypoplastic helices, Broad nasal tip, Wide nasal bridge, Und... |
OMIM:272950 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hypopl... |
ORPHA:920 |
Penile Agenesis |
|
Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Bilateral lung agenesis, Cr... |
ORPHA:49 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia |
OMIM:605735 |
Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... |
ORPHA:64 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Mediastinal... |
ORPHA:91359 |
Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia,... |
OMIM:620076 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Choanal atresia, Occipital encephalocele, Short thumb, Tetralogy o... |
OMIM:192350 |
Acrorenal-Mandibular Syndrome |
|
Low-set ears, Hypoplastic scapulae, Absent nipple, Abnormal sacral segmentation, Rudimentary fibu... |
OMIM:200980 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Thrombocytopenia, Absent platelet dense granules, Prolonged b... |
OMIM:614074 |
3Q29 Microduplication Syndrome |
|
Low-set ears, Wide nasal bridge, Hearing impairment, Ventricular septal defect, Camptodactyly of ... |
ORPHA:251038 |
Adiposis Dolorosa |
|
Bruising susceptibility, Dry skin, Obesity, Telangiectasia of the skin, Hypothyroidism |
ORPHA:36397 |
Alkaptonuria |
|
Aortic valve calcification, Thickened Achilles tendon, Intervertebral disk degeneration, Arthropa... |
OMIM:203500 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Prominent nasal tip, Central apnea, Atrial septal defect, Progressive flexi... |
ORPHA:522077 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Diffuse axonal swelling, Abnormal cartilage matrix, Arthrogryposi... |
ORPHA:86822 |
Acute Transverse Myelitis |
|
Upper limb muscle weakness, Autonomic bladder dysfunction, Distal lower limb muscle weakness, Sub... |
ORPHA:139417 |
Ulbright-Hodes Syndrome |
|
Low-set ears, Fibular aplasia, Micrognathia, Cryptorchidism, Humeroradial synostosis, Ovoid thora... |
ORPHA:3404 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Sensorineural hearing impairment, Thoracic aortic aneurysm, Elevated pulmona... |
OMIM:619351 |
Congenital Myopathy 17 |
|
Low-set ears, Pulmonary hypoplasia, Dental malocclusion, Narrow jaw, Myopathy, Respiratory tract ... |
OMIM:618975 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... |
ORPHA:1332 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Wide nasal bridge, Conductive hearing impairment, Delayed eruption of teeth, Supernumerary nipple... |
ORPHA:1071 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Arterial rupture, Dermal translucency, Poor wound healing, Bruising susceptibility |
OMIM:619120 |
Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption... |
ORPHA:50814 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Splenomegaly, Joint swelling, Neutrophilia, Pulmonary fibrosis, Fused cervi... |
OMIM:612852 |
Fetal Akinesia Deformation Sequence 1 |
|
Low-set ears, Pulmonary hypoplasia, Congenital contracture, Decreased muscle mass, Camptodactyly ... |
OMIM:208150 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Adnp Syndrome |
|
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Umbilical her... |
ORPHA:404448 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment |
OMIM:606943 |
Townes-Brocks Syndrome 1 |
|
Choanal atresia, Stahl ear, Umbilical hernia, Tetralogy of Fallot, Lop ear, Cryptorchidism, Senso... |
OMIM:107480 |
Hermansky-Pudlak Syndrome 8 |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... |
OMIM:614077 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Protruding ear, Macroglossia, Cupped ear, Atrial septal defect |
ORPHA:93947 |
Pachyonychia Congenita |
|
Respiratory distress, Advanced eruption of teeth, Ear pain, Natal tooth |
ORPHA:2309 |
Diets-Jongmans Syndrome |
|
Broad nasal tip, Hearing impairment, Umbilical hernia, Long ear, Congenital diaphragmatic hernia,... |
OMIM:618846 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Cryptorchidism, Ventricular septal defect, Short femur, Microtia |
OMIM:617798 |
Hermansky-Pudlak Syndrome 11 |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Menorrhagia |
OMIM:619172 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Splenomegaly, Neonatal death, Hematemesis, Pancreatic cysts, Hypertension, P... |
OMIM:263200 |
Occipital Horn Syndrome |
|
Platyspondyly, Bruising susceptibility, Persistent open anterior fontanelle, Genu valgum, Redunda... |
OMIM:304150 |
Spondyloocular Syndrome |
|
Low-set ears, Platyspondyly, Mitral valve prolapse, Sensorineural hearing impairment, Atrial sept... |
OMIM:605822 |
Fraser Syndrome |
|
Abnormality of the outer ear, Atresia of the external auditory canal, Encephalocele, Cryptorchidi... |
ORPHA:2052 |
Craniotubular Dysplasia, Ikegawa Type |
|
Wide nasal bridge, Optic atrophy, Platyspondyly, Hearing impairment, Anteverted nares, Optic nerv... |
OMIM:619727 |
Rift Valley Fever |
|
Gingival bleeding, Abnormal bleeding, Vertigo, Anemia, Hematemesis, Thrombocytopenia, Melena, Ret... |
ORPHA:319251 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Failure to thrive, Dilatation of the cerebral artery, Emphysema, Slender build, Pancytopenia, Por... |
OMIM:613658 |
Perlman Syndrome |
|
Interrupted aortic arch, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Micrognathia, C... |
OMIM:267000 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrh... |
OMIM:181450 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Bleeding requiring red cell transfusion, Bruising susceptibility, Failure to thrive |
OMIM:619484 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Gastrointestinal hemorrhage... |
OMIM:225400 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Scoliosis, Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture |
OMIM:118650 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Gabriele-De Vries Syndrome |
|
Low-set ears, Decreased response to growth hormone stimulation test, Breast hypoplasia, Bulbous n... |
ORPHA:506358 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ... |
OMIM:122880 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Breast aplasia, Dry skin, Anteverted nares, Sinusitis |
ORPHA:238468 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... |
OMIM:240300 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent metopic ridge, Hydrocephalus, Facial hypotonia, Hypoplastic aortic ar... |
ORPHA:457284 |
Rodrigues Blindness |
|
Protruding ear, Narrow nasal bridge, Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Papilledema, Atrial septal defect, Bilateral cryptorchidism |
OMIM:619471 |
Hereditary Angioedema Type 1 |
|
Hypotension, Dermatographic urticaria, Respiratory distress, Dyspnea, Urticaria |
ORPHA:100050 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Wide nasal bridge, Recurrent pneumonia, Broad nasal tip, Umbilical hernia, Malar flattening, Recu... |
OMIM:620330 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Hearing impairment, Hypoplastic sacrum... |
OMIM:604292 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Abnormality of the ankle, Contractures of the large joints, Bilateral cryptorchidism, Decreased r... |
ORPHA:96179 |
Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Underdeveloped nasal alae, Hypoplasia of the primary teeth, Portal hypert... |
OMIM:243800 |
Multiple Endocrine Neoplasia, Type Iib |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Myopathy, Ganglioneuroma, Agangl... |
OMIM:162300 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Fibular hypoplasia, Short ribs, Jaundice, Hypoplasia of the ulna, Pancreatic fi... |
OMIM:208500 |
Acrocephalopolydactylous Dysplasia |
|
Low-set ears, Micromelia, Polysplenia, Pancreatic fibrosis, Craniosynostosis, Extrapulmonary loba... |
OMIM:200995 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev... |
ORPHA:141083 |
Branchiogenic Deafness Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... |
ORPHA:50815 |
Matthew-Wood Syndrome |
|
Low-set ears, Annular pancreas, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal spleen ... |
ORPHA:2470 |
Thrombocytopenia 2 |
|
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... |
OMIM:188000 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Transient neutropenia, Mitral valve prolapse, Ventricular se... |
ORPHA:500095 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis |
ORPHA:98805 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Short ribs, Flat acetabular roo... |
OMIM:614091 |
Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... |
OMIM:609152 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Vitreous hemorrhage, Papilledema, Normochromic anemia |
ORPHA:91500 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Umbilical hernia, Supernumerary maxillary incisor, Situs inversus ... |
ORPHA:199302 |
Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Absent toe, Hearing impairment, Tetralogy of Fallot, Abnormal pulm... |
ORPHA:857 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Respiratory distress, Acral ulceration, Decreased number of peripheral m... |
OMIM:256810 |
Tetraamelia Syndrome 1 |
|
Low-set ears, Choanal atresia, Micrognathia, Congenital diaphragmatic hernia, Adrenal gland agene... |
OMIM:273395 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea |
OMIM:237310 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter |
OMIM:615595 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Lymphadenitis, Atelectasis, Impaired oxidative burst, Pleural effusion, Sple... |
OMIM:306400 |
You-Hoover-Fong Syndrome |
|
Hearing impairment, Kyphoscoliosis, Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Wide nasal bridge, Hypertension, Enamel hypoplasia, Atrial septal defect, Mandibular prognathia |
OMIM:300896 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
Primrose Syndrome |
|
Hearing impairment, Genu valgum, Cryptorchidism, Hip contracture, Macrotia, Irregular vertebral e... |
OMIM:259050 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Joint subluxation, Kyphosis, Bruising susceptibility, Wormian bones, Fragile skin, Hyperlordosis,... |
OMIM:617821 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Mitral valve prolapse, Sensorineural hearing impairment, Ventricular septa... |
OMIM:617107 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Wide nasal bridge, Abnormality of the outer ear, Depressed nasal bridge, Broad nasal tip, Promine... |
ORPHA:466943 |
Renal Tubular Dysgenesis |
|
Hypotension, Widely patent fontanelles and sutures, Pulmonary hypoplasia |
OMIM:267430 |
Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Septic arthritis, Abnormality of the ankle, Bruising susceptibility, Dry skin, Abnormality of the... |
ORPHA:642 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Hearing impairment, Goiter, Neoplasm of the thyroid gland, Abnormal... |
ORPHA:201 |
Occipital Horn Syndrome |
|
Synostosis of joints, Aplastic clavicle, Platyspondyly, Kyphosis, Bruising susceptibility, Delaye... |
ORPHA:198 |
Chand Syndrome |
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Dry skin, Hydroureter, Atelectasis |
ORPHA:1401 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ... |
OMIM:618426 |
Tooth Agenesis, Selective, X-Linked, 1 |
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Respiratory tract infection, Aplasia of the maxilla, Agenesis of molar, Agenesis of lateral incisor |
OMIM:313500 |
Sympathetic Ophthalmia |
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Erythema, Hearing impairment, Tinnitus, Papilledema, Retinal hemorrhage |
ORPHA:79098 |
Brittle Cornea Syndrome 2 |
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Bruising susceptibility, Hearing impairment, Umbilical hernia |
OMIM:614170 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Skeletal muscle atrophy, Bruising susceptibility, Premature graying of hair, Limb muscle weakness... |
OMIM:112250 |
Methylmalonic Aciduria, Cbla Type |
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Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Jaundice, Death in infancy, Congestive heart failure |
OMIM:617156 |
Retinoblastoma |
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Pinealoma, Vitreous hemorrhage, Leukemia |
OMIM:180200 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus, Phocomelia, Vertebral segmentation defect |
ORPHA:3004 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Wide nasal bridge, Short thumb, Supernumerary nipple, Anteverted nares, Narrow nasal tip, Cryptor... |
ORPHA:477993 |
Meckel Syndrome, Type 6 |
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Occipital encephalocele, Absent gallbladder, Bilobed right lung, Hydrocephalus, Anencephaly, Bile... |
OMIM:612284 |
Microphthalmia, Syndromic 1 |
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Low-set ears, Joint contracture of the hand, Hearing impairment, Optic disc coloboma, Recurrent o... |
OMIM:309800 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Posteri... |
OMIM:620189 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Coarctation of aorta, Right aortic arch |
OMIM:140850 |
Immunodeficiency 89 And Autoimmunity |
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Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lower respiratory t... |
OMIM:619632 |
Early Infantile Epileptic Encephalopathy |
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Precocious puberty, Depressed nasal bridge, Short finger, Umbilical hernia, Anteverted nares, Ven... |
ORPHA:1934 |
Familial Adenomatous Polyposis |
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Abnormal cementum morphology, Neoplasm of the gallbladder, Pituitary adenoma, Eruption failure, G... |
ORPHA:733 |
Yellow Fever |
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Neutrophilia, Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection... |
ORPHA:99829 |
Diphallia |
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Penoscrotal transposition, Horseshoe kidney, Abnormal heart morphology, Distal urethral duplicati... |
ORPHA:227 |
Thyroid Ectopia |
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Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Dry skin, Abnor... |
ORPHA:95712 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Erythema, Respiratory distress, Prominent nose, Fragile skin, Abnormal pulmonary interstitial mor... |
OMIM:614748 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:424 |
Familial Gestational Hyperthyroidism |
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Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:99819 |
Neuroocular Syndrome 1 |
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Low-set ears, Genu recurvatum, Cupped ear, Retrognathia, Umbilical hernia, Anterior creases of ea... |
OMIM:619539 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Hemivertebrae, Vertebral fusi... |
OMIM:271520 |
Osteoporosis-Pseudoglioma Syndrome |
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Platyspondyly, Biconcave vertebral bodies, Ventricular septal defect, Kyphoscoliosis, Severe plat... |
OMIM:259770 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Aplasia/Hypoplasia of the phalanges of the toes, Elbow dislocation, Hemivertebrae, Patent ductus ... |
ORPHA:1112 |
Renal Agenesis, Bilateral |
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Low-set ears, Depressed nasal ridge, Sirenomelia, Pulmonary hypoplasia |
ORPHA:1848 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Conjunctival telangiectasia, Dry skin, Scaling skin, Multinodular goiter |
OMIM:618373 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Anterior ... |
OMIM:300106 |
Pierson Syndrome |
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Retinal hemorrhage, Hypertension, Death in childhood, Skeletal muscle atrophy |
OMIM:609049 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Abnormality of the submandibular glands, Optic nerve compression, Enlar... |
ORPHA:79078 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Pneumonia, Skin ulcer, Generalized abnormality of skin, Respiratory distress, Neutropenia, Anemia... |
ORPHA:95455 |
Familial Multinodular Goiter |
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Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Mu... |
ORPHA:276399 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Depressed nasal bridge, Micromelia, Absent or minimally ossified vertebral bodies, Micrognathia, ... |
ORPHA:93271 |
Mckusick-Kaufman Syndrome |
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Aganglionic megacolon, Congenital hip dislocation, Cryptorchidism, Pulmonary hypoplasia |
OMIM:236700 |
Axenfeld-Rieger Syndrome, Type 1 |
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Decreased response to growth hormone stimulation test, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
Cowden Syndrome 7 |
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Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter |
OMIM:616858 |
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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Tarsal synostosis, Metatarsal synostosis, Metacarpal synostosis, Carpal synostosis |
OMIM:608180 |