| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Pectus excavatum, Short 5th metacarpal, Short stature, Perimembran... |
OMIM:617877 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology |
ORPHA:111 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... |
ORPHA:2516 |
| Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
| Sandestig-Stefanova Syndrome |
|
Developmental cataract, Convex nasal ridge, Intrauterine growth retardation, Rocker bottom foot, ... |
OMIM:618804 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Overfolded helix, Short nose, P... |
OMIM:609945 |
| Emanuel Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Hearing impairment, Low hanging columella, Cerebral... |
OMIM:609029 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Intrauterine growth retardation,... |
OMIM:220210 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Patent ductus arteriosus, Hearing impairment, Postnatal growth ret... |
OMIM:179613 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Short stature, Retinal coloboma, P... |
ORPHA:508498 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Vertebral fusion, Talipes equinovarus, Short long bone, Double outlet righ... |
OMIM:618845 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Short nose, Dislocated ... |
ORPHA:401935 |
| Emanuel Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Hearing impairment, Low hanging columella, Cerebral... |
ORPHA:96170 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal form of the vertebral bodie... |
ORPHA:1354 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormalit... |
ORPHA:2378 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Abnormality of the odontoid process, Myelomeningocele, Hemivertebrae, Vertebral fus... |
OMIM:613686 |
| Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Retinal coloboma, Decreased response t... |
OMIM:214800 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Long fingers, W... |
OMIM:618316 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Abnormality of th... |
OMIM:618164 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Short stature, Growth delay, Short nose, Wide nasal bridge, Clin... |
OMIM:615583 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ... |
OMIM:618378 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Talipes equinovarus, Short nose, Absent frontal sinuses, Postnatal growth retardation, Cerebral a... |
OMIM:301040 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Short ... |
OMIM:601355 |
| Placental Insufficiency |
|
Eclampsia, Intrauterine growth retardation, Preeclampsia, Abnormal heart morphology, Maternal hyp... |
ORPHA:439167 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Micrognathia, Truncus arteriosus, Neonatal death, Abnormality of the p... |
OMIM:228940 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Micrognathia, Intrauterine growth retardation, Severe pos... |
ORPHA:73272 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Ventricular septal defect, Abnormal sacrum morphology, Abnor... |
ORPHA:2345 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Absent tibia, Depressed nasal bridge, Talipes equinovarus, Short stature, Mi... |
OMIM:119800 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Talipes equinovarus, Short stature, Short ribs, Femoral bowing, Short long bone, Po... |
OMIM:613091 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Phaver Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Overfolded helix, Abnormal form of the vertebral bodie... |
ORPHA:2876 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Short stature, Pes planus, Camptodactyly of finger, Choanal atresia, Toe synd... |
ORPHA:261330 |
| Occipital Horn Syndrome |
|
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Synostosis of joints, Brachydactyly, Vascul... |
ORPHA:198 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Butterfly vertebrae, Short stature, Wide nose, Fused cervical vertebrae, Spreng... |
OMIM:619227 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Short stature, Pectus carinatum, Premature birth, Finger syndactyly, Ab... |
ORPHA:3268 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Prominent nose, Micrognathia, Vertebral fusion, Macrotia, Supernumerary ribs, Verte... |
OMIM:221950 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Ventricular septal defect, Toe syndactyly, Truncus arteriosus, Intrauterine growth... |
ORPHA:2008 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
| Femoral-Facial Syndrome |
|
Truncus arteriosus, Talipes equinovarus, Short stature, Hypoplastic acetabulae, Short nose, Short... |
OMIM:134780 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Intrauterine growth retardation, Truncus arteriosus, Short stature |
OMIM:611867 |
| Scimitar Syndrome |
|
Abnormality of the vertebral column, Left-to-right shunt, Truncus arteriosus, Mitral atresia, Sin... |
ORPHA:185 |
| Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Hearing impairment, Short forearm, Abnormality of the nose, Syndactyly,... |
ORPHA:1708 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Small placenta, Patent ductus arteriosus, Finger syndactyly, Ptery... |
OMIM:256520 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Abnormal form of the vertebral bodies, Iris coloboma, Pterygium, Sclerotic... |
ORPHA:371428 |
| Aarskog-Scott Syndrome |
|
Short stature, Pes planus, Genu recurvatum, Finger syndactyly, Megalocornea, Camptodactyly of fin... |
ORPHA:915 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Congestive heart... |
OMIM:302060 |
| Stankiewicz-Isidor Syndrome |
|
Prominent nose, Ventricular septal defect, 2-3 toe syndactyly, Truncus arteriosus, Micrognathia, ... |
OMIM:617516 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Dysplastic corpus callosum, Long nose, Abnormal heart morphology, Perimembra... |
ORPHA:363444 |
| Kbg Syndrome |
|
Underdeveloped nasal alae, Vertebral fusion, Cutaneous syndactyly, Short stature, Macrotia, Conge... |
ORPHA:2332 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Patent ductus arteriosus, Fing... |
ORPHA:392 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Distal Monosomy 10Q |
|
Short stature, Short metatarsal, Pes valgus, Short nose, Pes planus, Patent ductus arteriosus, Po... |
ORPHA:96148 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Depressed nasal bridge, Short stature, Double outl... |
ORPHA:3426 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... |
OMIM:618782 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Multiple Pterygium Syndrome, X-Linked |
|
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Vertebral fusion, Fetal aki... |
OMIM:312150 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Talipes equinovarus, Short stature, Hearing impairment, Low-set ears, Abnormal left ventricular f... |
OMIM:301056 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Micrognathia, Abnormality of epiphysis morphology, Bowing of the long ... |
ORPHA:93267 |
| Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Absent tibia, Patellar aplasia, Triphalangeal thumb, Fibular duplicati... |
OMIM:135750 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Low-set ears, Umbilical hernia, M... |
OMIM:130720 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Vertebral... |
OMIM:113000 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Vertebral fusion, Fetal aki... |
OMIM:253290 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short stature, H... |
OMIM:206900 |
| Restrictive Dermopathy |
|
Small placenta, Patent ductus arteriosus, Aplasia/Hypoplasia involving the nose, Camptodactyly of... |
ORPHA:1662 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Broad nasal tip, Depressed nasal bridge, Hemivertebrae, Short stature, Double outlet right ventri... |
OMIM:618223 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypoplastic nasal tip, 2-3 toe syndactyly, Micrognathia, Persistent left superior vena cava, Doub... |
ORPHA:3304 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Pectus excavatum, Intrauterine growth retardation, Short stature, Arth... |
ORPHA:1937 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Short stature, Epiphyseal stippling, Prominent calcaneus, Short ribs, Dia... |
ORPHA:96334 |
| Alg12-Cdg |
|
Talipes equinovarus, Proximal placement of thumb, Patent ductus arteriosus, Camptodactyly, Short ... |
ORPHA:79324 |
| Fetal Akinesia Deformation Sequence 1 |
|
Talipes equinovarus, Generalized amyotrophy, Small placenta, Camptodactyly of finger, Abnormality... |
OMIM:208150 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Right aortic arch, Transp... |
OMIM:231060 |
| Kniest Dysplasia |
|
Aplasia/hypoplasia of the extremities, Short thorax, Hearing impairment, Short long bone, Depress... |
ORPHA:485 |
| Frank-Ter Haar Syndrome |
|
Buphthalmos, Talipes equinovarus, Megalocornea, Camptodactyly, Anteverted nares, Delayed cranial ... |
OMIM:249420 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Rhizomelia, Wide nose, Abnormality of the pinna, Short ... |
OMIM:607143 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
| Thymic Aplasia With Fetal Death |
|
Truncus arteriosus, Stillbirth |
OMIM:274210 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Micrognathia, Short statu... |
OMIM:601186 |
| Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... |
ORPHA:99095 |
| Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Genu recurvatum, Camptodactyly of finger, A... |
ORPHA:1425 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Monkey wrench femoral neck, 2-3 toe syndactyly, Short stature, Pes planus, Patent ductus arterios... |
OMIM:618870 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation, Syndactyly, Foot oligodac... |
OMIM:616589 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Short nose,... |
OMIM:601559 |
| Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Micromelia, Depressed nasal bridge, Abnorma... |
ORPHA:2635 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Short stature, Hearing impairment, Camptodactyly, Elbow flexion contracture, Ver... |
OMIM:178110 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Micrognathia, Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Syn... |
ORPHA:397590 |
| Halperin-Birk Syndrome |
|
Micrognathia, Developmental cataract, Intrauterine growth retardation, Agenesis of corpus callosu... |
OMIM:618651 |
| Carpenter Syndrome 1 |
|
Genu varum, Short stature, Joint contracture of the hand, Patent ductus arteriosus, Deviation of ... |
OMIM:201000 |
| Slc35A2-Cdg |
|
Talipes equinovarus, Short stature, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:356961 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Short stature, Aortic root aneurysm, Overfolded helix, Pa... |
OMIM:610443 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Abnormal foot morphology, 2-3 toe syndactyly, Talipes equinovarus, Pes val... |
ORPHA:477817 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Talipes equinovarus, Situs inversus totalis, Sti... |
OMIM:615415 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Underfolded helix, Genu varum, Upper limb undergrowth, Short stature, Metaphys... |
ORPHA:93315 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Depressed nasal bridge, Hypoplastic frontal sinuses, Abnormal vertebral segmentatio... |
ORPHA:90650 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Ventricular septal defect, Abnormal heart morphology, Coat hanger sign of ri... |
ORPHA:254534 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal irregularity, Brachydactyly, Osteoporotic tarsals, Flat acetabular roof... |
OMIM:609052 |
| Omodysplasia 1 |
|
Limited elbow flexion, Short nose, Increased fibular diameter, Limited elbow extension, Short hum... |
OMIM:258315 |
| Diastrophic Dysplasia |
|
Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of... |
ORPHA:628 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... |
OMIM:606612 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short stature, Abnormal form of the vertebral bodies, Sh... |
ORPHA:2311 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Triphalangeal thumb, Abnormal aortic valve morphology, Atrioventricular ca... |
ORPHA:1120 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:3384 |
| 22Q11.2 Deletion Syndrome |
|
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Short stature, Chronic otitis media, Ov... |
ORPHA:567 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Double outlet left ventricle, Aplasia of the left hemidiaphragm, Patent ductu... |
OMIM:600001 |
| Femoral-Facial Syndrome |
|
Talipes equinovarus, Short stature, Short nose, Aplasia/Hypoplasia of the corpus callosum, Abnorm... |
ORPHA:1988 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Short stature, Congenital di... |
ORPHA:1166 |
| Otopalatodigital Syndrome Type 2 |
|
Short nose, Hearing impairment, Increased bone mineral density, Camptodactyly of finger, Low-set ... |
ORPHA:90652 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Ventricular septal defect, Short stature, Congenital diaphragmatic... |
ORPHA:1488 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:3320 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, ... |
ORPHA:1797 |
| Ring Chromosome 21 Syndrome |
|
Short stature, Abnormal heart morphology, Small hand, Clinodactyly, Abnormal thorax morphology, S... |
ORPHA:1445 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Skeletal muscle hypertrophy, Short stature, Birth length less than 3rd percen... |
OMIM:139210 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Microcephaly, Vertebral fusion, Short stature |
OMIM:251250 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Partial agenesis of the corpus callosum, Ventricular septal defect, Trun... |
OMIM:617478 |
| Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short nose, 11 pair... |
OMIM:108720 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
| Kbg Syndrome |
|
Underdeveloped nasal alae, Vertebral fusion, Short stature, Macrotia, Radial deviation of finger,... |
OMIM:148050 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... |
OMIM:601376 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Abnorm... |
OMIM:214300 |
| Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Pectus ex... |
OMIM:616145 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial aplasia, Finger synd... |
OMIM:274000 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Abnormal heart morphology, Absent tibia, Polydactyly |
OMIM:188740 |
| Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Radial club hand, Fibular hypoplasia, Patent ductus arteriosus, ... |
ORPHA:1972 |
| Apert Syndrome |
|
Conductive hearing impairment, Morphological abnormality of the semicircular canal, Cervical C5/C... |
ORPHA:87 |
| Charge Syndrome |
|
Short stature, Abnormality of bone mineral density, Overfolded helix, Patent ductus arteriosus, H... |
ORPHA:138 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Moderate hearing impairment, Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of... |
ORPHA:370010 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Pectus excavatum, Depressed nasal bridge, Intrauterine growth retardation, M... |
ORPHA:254528 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... |
ORPHA:79345 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Underdeveloped nasal alae, Myopathy, Micrognathia, Short stature, Cervical C2/C3 vertebral fusion... |
OMIM:616549 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... |
OMIM:122600 |
| Basal Cell Nevus Syndrome |
|
Plantar pits, Abnormal sternum morphology, Short ribs, Iris coloboma, Short 4th metacarpal, Calci... |
OMIM:109400 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, C... |
ORPHA:263297 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd metacarpal, Short 5th metacarpal, Dysplastic corpus callosum, Tapered finger, Short 4th... |
OMIM:618569 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Decreased calvarial ossification, Ventricular septal defect, Intrauterine growth retardation, Low... |
ORPHA:2772 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Short nose, Pes planus, Patent ductus arteriosus, Proximal p... |
ORPHA:251071 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Growth delay, Short stature, Delayed closure of the anterior fontanelle, Double o... |
OMIM:614886 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short... |
OMIM:118651 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Short toe, Umbilical h... |
OMIM:615297 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Craniosynostosis, Arachnodacty... |
ORPHA:261243 |
| Achondrogenesis Type 1B |
|
Disproportionate short stature, Micrognathia, Talipes equinovarus, Short nose, Short thorax, Poly... |
ORPHA:93298 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... |
ORPHA:439 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Short nose, Multiple prenatal fractures, Short ribs, Anteverted nares, Low-set... |
OMIM:616897 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Short stature, Phocomelia, Aplasia/Hypoplasia of the thumb, Stenosis of the external ... |
OMIM:171480 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Intrauterine growth retardation,... |
ORPHA:1913 |
| Gorlin Syndrome |
|
Plantar pits, Vertebral fusion, Hemivertebrae, Vertebral wedging, Arachnodactyly, Wide nasal brid... |
ORPHA:377 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Double outlet right ven... |
ORPHA:2209 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Butterfly vertebrae, Micrognathia, Aplasia of the nose, Septo-optic dy... |
OMIM:301043 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Fibrochondrogenesis 1 |
|
Broad ischia, Short nose, Joint contracture of the hand, Short ribs, Megalocornea, Camptodactyly,... |
OMIM:228520 |
| Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... |
ORPHA:959 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Short stature, Overfolded helix, Bulbous nose, Aplasia/Hypoplasia of the c... |
ORPHA:96169 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... |
ORPHA:66637 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Hearing impairme... |
ORPHA:163956 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Truncus arteriosus, Short stature, Asymmetry of the ears, Retinal coloboma, Pes v... |
ORPHA:508488 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Leri-Weill Dyschondrosteosis |
|
Skeletal muscle hypertrophy, Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Lim... |
OMIM:127300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly, Periventricular leukomal... |
OMIM:619170 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, Delayed skeletal mat... |
ORPHA:52 |
| Microcephaly-Micromelia Syndrome |
|
Micrognathia, Convex nasal ridge, Intrauterine growth retardation, Talipes equinovarus, Oligodact... |
OMIM:251230 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Anteverted ears, Asymmetry of the ears, Talipes equinovarus, Short stature, P... |
OMIM:300166 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Growth delay, Short stature, Mitral regurgitatio... |
ORPHA:2326 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Duplication of the distal phalanx of hand, Broad toe, Short nose, Hypoplastic sacr... |
OMIM:268310 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Low-set, posteriorly rotated ear... |
ORPHA:1918 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... |
ORPHA:168549 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Conductive hearing impairment, 2-3 toe syndactyly, Short middle phalanx ... |
ORPHA:391641 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Hypertelorism And Tetralogy Of Fallot |
|
Depressed nasal bridge, Talipes equinovarus, Posteriorly rotated ears, Patent ductus arteriosus, ... |
OMIM:239711 |
| Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Long phalanx of finger, Partial fusion of carpals, Camptodactyly of finger, Elbow ... |
OMIM:305620 |
| Frontometaphyseal Dysplasia |
|
Short metatarsal, Pes valgus, Joint contracture of the hand, Hearing impairment, Progressive bowi... |
ORPHA:1826 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Pectus excavatum, Intrauterine growth retardation, Hemiv... |
OMIM:608406 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Metaphyseal irregularity, Epiphyseal dysplasia, Hearing impairment, Opaci... |
OMIM:253200 |
| Osebold-Remondini Syndrome |
|
Abnormality of the vertebral column, Tarsal synostosis, Short stature, Broad finger, Broad toe, F... |
OMIM:112910 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Noonan Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Micrognathia, Pectus excavatum, Short statu... |
ORPHA:648 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Distal arthrogryposis, Crumpled ear, Hip contracture, Talipes equinovarus,... |
OMIM:121050 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy, Fusion of midcervical facet jo... |
OMIM:606842 |
| Roifman Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Narrow nose, Intrauterine growth retardatio... |
OMIM:616651 |
| Robinow Syndrome |
|
Short stature, Short nose, Syndactyly, Anteverted nares, Low-set ears, Umbilical hernia, Ventricu... |
ORPHA:97360 |
| Restrictive Dermopathy 1 |
|
Decreased calvarial ossification, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, ... |
OMIM:275210 |
| Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Micrognathia, Depressed nasal bridge, Premature birth, Kyphoscoliosis, Coat ... |
ORPHA:254519 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Capitate-hamate fusion, Talipes equinovarus, Short nose, C2-C3 subluxation, Epiphyseal dysplasia,... |
OMIM:272460 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Broad nasal tip, Hypoplastic frontal sinuses, Short columella, Bif... |
OMIM:136760 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Broad hallux phalanx, Patent ductus arteriosus, Finger syndactyly, Delayed skeletal maturation, A... |
ORPHA:1517 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Retinal coloboma, Pes planus, Hypoplasia of the radius, Iris coloboma, Synda... |
OMIM:607323 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Pectus carinatum, Osteo... |
ORPHA:93351 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short nose, Short toe,... |
OMIM:613458 |
| Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... |
ORPHA:1801 |
| Achondrogenesis Type 1A |
|
Micrognathia, Multiple rib fractures, Short nose, Short thorax, Polyhydramnios, Severe short stat... |
ORPHA:93299 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Short stature, Mitral re... |
OMIM:157800 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Ventricular septal defect, Intrauterine growth retardation, Short ... |
OMIM:609053 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Iris coloboma, Foot polydactyly, Syndactyly, Vascular dilatation, Low-s... |
OMIM:249000 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Delayed skeletal maturation, Low-set ears, Small epiphyses, Anterior rib cupping, ... |
OMIM:300232 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Growth delay, Abnormal vertebral segmentation and fusion,... |
OMIM:244600 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Patent ductus arteriosus, Low hanging columella, Polymicrogyria, Anteverte... |
ORPHA:500159 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
| Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Wide nose, Fing... |
OMIM:610017 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Micrognathia, Convex nasal ridge, Pectus excavatum, Short stature, Abnormal clavicle morphology, ... |
ORPHA:2522 |
| Hadziselimovic Syndrome |
|
Ventricular septal defect, Short stature, Ventricular hypertrophy, Posteriorly rotated ears, Prom... |
OMIM:612946 |
| Ververi-Brady Syndrome |
|
Prominent nose, Broad nasal tip, Intrauterine growth retardation, Short stature, Wide nose, Metap... |
OMIM:617982 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, Underfolded helix, Spinal canal stenosis, 2-3 toe syndactyly, ... |
OMIM:263540 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Growth delay, Prolonged QT interval, Gen... |
ORPHA:66634 |
| Weill-Marchesani Syndrome 2 |
|
Short stature, Short metatarsal, Patent ductus arteriosus, Delayed skeletal maturation, Aortic va... |
OMIM:608328 |
| Mucopolysaccharidosis Type 4 |
|
Short stature, Short thorax, Reduced bone mineral density, Hearing impairment, Delayed skeletal m... |
ORPHA:582 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Trisomy 13 |
|
Ventricular septal defect, Intrauterine growth retardation, Abnormality of pelvic girdle bone mor... |
ORPHA:3378 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Vertebral fusion, Macroglossia, Achilles t... |
OMIM:607155 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Long clavicles, Intrauterine growth retardation, Thin ri... |
ORPHA:83617 |
| Kapur-Toriello Syndrome |
|
Conductive hearing impairment, Ventricular septal defect, Intrauterine growth retardation, Retina... |
OMIM:244300 |
| Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger... |
OMIM:112800 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Distal Monosomy 15Q |
|
Bicuspid aortic valve, Talipes equinovarus, Short stature, Mitral atresia, Mitral stenosis, Paten... |
ORPHA:1596 |
| Kniest-Like Dysplasia, Lethal |
|
Talipes equinovarus, Metaphyseal irregularity, Short ribs, Patent ductus arteriosus, Brachydactyl... |
OMIM:245190 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplastic iris strom... |
ORPHA:233 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Chronic otitis media, Mitral atresia, Pes valgus, Short nose, Subvalvular aortic... |
OMIM:619503 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... |
ORPHA:93405 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Broad thumb, Macrotia, Pes pl... |
ORPHA:329224 |
| Osteogenesis Imperfecta |
|
Progressive hearing impairment, Short stature, Aortic root aneurysm, Abnormal form of the vertebr... |
ORPHA:666 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
| Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Abnormal form of the... |
ORPHA:175 |
| Digeorge Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Micrognathia, Truncus arteriosus, Short statu... |
OMIM:188400 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Hemivertebrae, Short stature, Abnormal form of the vertebral bodies, Kyphosis, ... |
ORPHA:2916 |
| 3C Syndrome |
|
Short stature, Short nose, Finger syndactyly, Iris coloboma, Postnatal growth retardation, Hand p... |
ORPHA:7 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Recurrent otitis media |
OMIM:618254 |
| Codas Syndrome |
|
Ventricular septal defect, Crumpled ear, Depressed nasal bridge, Coronal cleft vertebrae, Short s... |
ORPHA:1458 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Poland Syndrome |
|
Dextrocardia, Unilateral hypoplasia of pectoralis major muscle, Hemivertebrae, Unilateral brachyd... |
OMIM:173800 |
| Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Coarctation of aorta, ... |
ORPHA:280195 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Abnormality of the mitochondrion |
ORPHA:91130 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Talipes equinovarus, Short stature, Short humerus, Low-set ears, Short femur, Irregular epiphyses... |
OMIM:601560 |
| Simpson-Golabi-Behmel Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Talipes equinovarus, Short nose, Finger syn... |
ORPHA:373 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Pectus excavatum, Short stature, Abnormality of the pinna, Prominent n... |
ORPHA:52055 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Intimal thickening in the coronary arteries, Hearing imp... |
OMIM:253010 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... |
OMIM:609616 |
| Wolf-Hirschhorn Syndrome |
|
Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Iris coloboma, Delayed... |
OMIM:194190 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Amelia, Abnormal cortical gyration, Arrhinencephaly, Truncus arteriosus, Growth delay, Agenesis o... |
ORPHA:2538 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
| Kagami-Ogata Syndrome |
|
Long clavicles, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Thin ribs, Long ... |
OMIM:608149 |
| Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Persistent left superior vena cava, Situs inversus totalis, Abnorm... |
ORPHA:244 |
| Craniofacial Microsomia |
|
Limbal dermoid, Conductive hearing impairment, Ventricular septal defect, Micrognathia, Hemiverte... |
OMIM:164210 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Talipes equinovarus, Short stature, Syndactyly, Low-set ears, Umbilical hernia, Dysplastic patell... |
OMIM:265000 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Triphalangeal thumb, Intrauterine growth retardation, Growth delay, Re... |
OMIM:612562 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Spinal canal stenosis, Pectus excavatum, Supravalvular aortic stenosis... |
OMIM:618624 |
| White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sprengel anomaly, Atrial septal defect, Abn... |
ORPHA:2475 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Short stature, Talipes, Ulnar deviation of finger,... |
ORPHA:1836 |
| Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia, Hearing impairment |
OMIM:275230 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
| Larsen Syndrome |
|
Talipes equinovarus, Short stature, Short metatarsal, Spatulate thumbs, Bipartite calcaneus, Cond... |
OMIM:150250 |
| 3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Pectus carinatum, Tapered finger, Short nose, Macrotia, Prominent nasal bridge,... |
ORPHA:65286 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Delayed skeletal maturation, Short hume... |
OMIM:210710 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Peters anomaly, Patent ductus arteriosus, Opacification of the corneal stroma, Low-set... |
OMIM:612582 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Micrognathia, Growth d... |
ORPHA:1727 |
| Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block, Genu varum, Short stature, Short metatarsal, Broad toe, Meta... |
OMIM:619636 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Short ribs, Short diaphyses, P... |
OMIM:215140 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Intrauterine growth retardation, Thin ribs, Short stature, Hypoplastic ili... |
OMIM:300863 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| 3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Patent ductus arteriosus... |
ORPHA:435638 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... |
OMIM:223800 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Abnormal vertebral mor... |
ORPHA:2319 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Severe short-limb dwarfism, D... |
OMIM:201250 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Absent nasal bridge, Neonatal death, Short ribs, Low-set ears, ... |
OMIM:617925 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Hypoplastic right heart, Split foot |
OMIM:601348 |
| Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Limited shoulder movement, Intervertebral disc dege... |
OMIM:203500 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Adducted th... |
OMIM:617022 |
| Mucopolysaccharidosis, Type Iva |
|
Epiphyseal deformities of tubular bones, Hearing impairment, Opacification of the corneal stroma,... |
OMIM:253000 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Recurrent otitis m... |
OMIM:608940 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Ventricular hypertrophy, Short nose, Pulmonary arterial hypertension, Posteriorly ... |
OMIM:300887 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Iris coloboma, Thoracic scoliosis, Cervi... |
OMIM:613702 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Pectus carina... |
ORPHA:313892 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Hemivertebrae, Congenital diaphragmat... |
ORPHA:1780 |
| Wildervanck Syndrome |
|
Meningocele, Lens subluxation, Congenital sensorineural hearing impairment, Facial palsy, Fused c... |
ORPHA:3456 |
| Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Talipes equin... |
OMIM:619472 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Retinal coloboma, Posteriorly rotated ears... |
ORPHA:2328 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Conductive hearing impairment, Hallux valgus, Ectopic ossification in muscle ... |
OMIM:135100 |
| Weill-Marchesani Syndrome 1 |
|
Short stature, Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Depres... |
OMIM:277600 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Anencephal... |
ORPHA:1908 |
| Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Finge... |
ORPHA:1106 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs,... |
OMIM:250220 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the len... |
ORPHA:85194 |
| Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesom... |
OMIM:249700 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Pectus excavatum, Talipes equinovarus, Congenital hip dislocation, Pat... |
ORPHA:2970 |
| Waardenburg Syndrome, Type 2E |
|
Blue irides, Pectus excavatum, Morphological abnormality of the vestibule of the inner ear, Ocula... |
OMIM:611584 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Limited pronation/supination of forearm, Spinal canal stenosis, Dyspla... |
ORPHA:1724 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Short long bone, Hydrops fetalis, Ventricular septal defect, Pectus carinatum, Tricus... |
OMIM:263520 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Short stature, Wide nasal bridge, Fused cervical vertebrae, Thora... |
OMIM:309620 |
| Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Diaphyseal thickening, Depressed nasal bridge, Short stature, Wide... |
ORPHA:1513 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Mitral regurgi... |
OMIM:603387 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula, Micrognathia, Intrauterine growt... |
ORPHA:958 |
| Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Thoracic hypoplasia, Tibial bowing, Broad long bones, Convex nasal ridge... |
OMIM:166210 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Fused ce... |
OMIM:618469 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebr... |
OMIM:118100 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... |
OMIM:270100 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Toe syndactyly, Underdeveloped nasal alae, Congenital stapes ankyl... |
OMIM:184460 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Micrognathia,... |
ORPHA:3082 |
| Mosaic Trisomy 14 |
|
Micrognathia, Lower limb asymmetry, Low-set, posteriorly rotated ears, Prominent nasal bridge, Wi... |
ORPHA:1703 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Patent ductus arteriosus, Hypoplasia of the radius, Syndactyly, ... |
OMIM:142900 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Supernumerary ... |
OMIM:612447 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Prominent nose, Micrognathia, Triphalangeal thumb, Talipes equinovarus, Oligodactyly, Short statu... |
OMIM:201170 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Micrognathia, Third degree atrioventricular block, Abnormality of the calcane... |
ORPHA:40366 |
| 3M Syndrome |
|
Short stature, Short thorax, Bulbous nose, Delayed skeletal maturation, Anteverted nares, Protrud... |
ORPHA:2616 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal antitragus morphology, Premature birth, Overfolded helix, Abnormal form o... |
ORPHA:2759 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Decreased mitochondrial number, Arrhythmia |
ORPHA:352447 |
| Renpenning Syndrome |
|
Round ear, Prominent nose, Pectus excavatum, Skeletal muscle atrophy, Growth delay, Macrotia, Sev... |
ORPHA:3242 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Prominent nose, Depressed nasal bridge, Hemivertebrae, Abnormal form of the vertebral bodies, Wid... |
ORPHA:2180 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Anteverted nares, Abnormal pelvis bone morphology, Short phalanx of finger,... |
ORPHA:1427 |
| Mosaic Trisomy 9 |
|
Talipes equinovarus, Patent ductus arteriosus, Bulbous nose, Camptodactyly of finger, Low-set ear... |
ORPHA:99776 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Short stature, Abnormal sacrum morphology, Fused cervical vertebr... |
ORPHA:1436 |
| De Barsy Syndrome |
|
Talipes equinovarus, Short stature, Patent ductus arteriosus, Postnatal growth retardation, Delay... |
ORPHA:2962 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Microcephaly, Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Limb Body Wall Complex |
|
Abnormality of the vertebral column, Cutaneous finger syndactyly, Ectopia cordis, Progressive con... |
ORPHA:2369 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Anomalous branches of internal ca... |
ORPHA:363705 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Sensorine... |
OMIM:617992 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Aicardi Syndrome |
|
Dilated third ventricle, Proximal placement of thumb, Postnatal growth retardation, Polymicrogyri... |
OMIM:304050 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Tapered finger, Short nose, Posteriorly rotated ears, Pa... |
OMIM:613870 |
| Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Hand oligodactyly, Phocomelia, Hypoplasia of the radius, Polymicrogyria, Absent ... |
OMIM:156810 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Upper limb undergrowth, Short 5th metacarpal, Short 3rd metacarpal, Um... |
OMIM:169400 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Conductive hearing impairment, Cutaneous finger syndactyly, Prominent nose, Long fingers, Arachno... |
OMIM:602249 |
| Trichohepatoenteric Syndrome 1 |
|
Depressed nasal ridge, Ventricular septal defect, Intrauterine growth retardation, Short stature,... |
OMIM:222470 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl... |
OMIM:154400 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Macroglo... |
OMIM:612938 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Prominent nasal bridge, Patent ductus arteriosus, Peters... |
OMIM:618652 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Skeletal muscle atrophy, Abnormality of the elbow, Short stature, Amniotic constric... |
ORPHA:1486 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short humerus, Short toe, Anteverted nares, Short phalanx of finger, Cone-shaped epip... |
OMIM:250215 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Hip contracture, Talipes equinovarus, Short metatarsal, Patent ductus arte... |
OMIM:617137 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:611376 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Shield chest, Tricuspid stenosis, Talipes equinovarus, Short stature, Cubitus valgus, Mitral sten... |
OMIM:143095 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Talipes equinovarus, Macroglossia, Macrotia, Clinodactyly, Transposition ... |
OMIM:616789 |
| Doors Syndrome |
|
Arrhinencephaly, Sirenomelia, Triphalangeal thumb, 11 pairs of ribs, Bulbous nose, Polymicrogyria... |
ORPHA:79500 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormality of the odontoid process, Pectus excavatum, Pectus carinatu... |
OMIM:609654 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Depressed nasal ridge, Thickened ribs, Intra... |
OMIM:230500 |
| Mosaic Trisomy 1 |
|
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Campt... |
ORPHA:1692 |
| Achondrogenesis, Type Ia |
|
Short nose, Short ribs, Hypoplasia of the radius, Anteverted nares, Abnormal foot bone ossificati... |
OMIM:200600 |
| Melnick-Needles Syndrome |
|
Micrognathia, Short clavicles, Abnormality of the pubic bone, Short stature, Bowing of the long b... |
ORPHA:2484 |
| Asymmetric Short Stature Syndrome |
|
Micrognathia, Convex nasal ridge, Fused cervical vertebrae, Asymmetric short stature, Hemihypotro... |
OMIM:108450 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Horizontal crus of helix, Colpocephaly, Overfol... |
OMIM:618619 |
| Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
| Grange Syndrome |
|
Hypertension, Ventricular septal defect, Increased susceptibility to fractures, Aortic regurgitat... |
ORPHA:79094 |
| Orofaciodigital Syndrome Xvii |
|
Prominent nose, Clubbing of fingers, Polydactyly, Short stature, Hearing impairment, Tetralogy of... |
OMIM:617926 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Chronic otitis media, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology,... |
ORPHA:276422 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| C Syndrome |
|
Short stature, Short nose, Fused sternal ossification centers, Patent ductus arteriosus, Delayed ... |
OMIM:211750 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Thick nasal alae, Macroglossia, Chronic otitis media, Epiphy... |
ORPHA:583 |
| Apert Syndrome |
|
Cutaneous finger syndactyly, Chronic otitis media, Hearing impairment, Overriding aorta, Delayed ... |
OMIM:101200 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Abnormal foot morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Ab... |
ORPHA:2990 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pes planus, Path... |
OMIM:271640 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Genu varum, Metaphyseal dysplasia, Irregular chondrocostal junctions, Metaphyseal irregularity, S... |
OMIM:250420 |
| Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Talipes equinovarus, Hearing impairment, 11 pairs of rib... |
OMIM:114290 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Conductive hearing impairment, Pericarditis, Double... |
ORPHA:397 |
| Ivic Syndrome |
|
Upper limb undergrowth, Triphalangeal thumb, Patent ductus arteriosus, Hearing impairment, Hypopl... |
OMIM:147750 |
| Gm1 Gangliosidosis Type 1 |
|
Hearing impairment, Beaking of vertebral bodies T12-L3, Abnormal placenta morphology, Low-set ear... |
ORPHA:79255 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Pectus excavatum, Short stature, Prominent nasal bridge, Patent ductus... |
OMIM:300472 |
| Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Fibular aplasia, Micrognathia, Depressed nasal bridge, Mesomelic leg shortenin... |
ORPHA:2756 |
| Codas Syndrome |
|
Crumpled ear, Metaphyseal dysplasia, Short stature, Pes valgus, Proximal placement of thumb, Dela... |
OMIM:600373 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Growth delay, Hemivertebrae, Abnormal vertebral morphology, Sclerocorn... |
ORPHA:77298 |
| Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Short nose, Hypoplasia of the radius, Hearing impairment, ... |
ORPHA:3258 |
| Sprengel Deformity |
|
Cervical segmentation defect, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Hemivertebrae, ... |
OMIM:184400 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle hypertrophy, Talipes equinovarus, Short stature, Overfolded heli... |
ORPHA:800 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Genu recurvatum, Pes planus, Camptodactyly, A... |
OMIM:182212 |
| Chromosome 18Q Deletion Syndrome |
|
Talipes equinovarus, Short stature, Pes planus, Patent ductus arteriosus, Proximal placement of t... |
OMIM:601808 |
| Caudal Regression Sequence |
|
Decreased muscle mass, Arrhinencephaly, Maternal diabetes, Hypertension, Talipes equinovarus, Abn... |
ORPHA:3027 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow... |
OMIM:210720 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Short stature, Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid proces... |
OMIM:609813 |
| Mosaic Trisomy 8 |
|
Short stature, Hearing impairment, Camptodactyly of finger, Anteverted nares, Protruding ear, Ver... |
ORPHA:96061 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Micrognathia, Patellar aplasia, Depressed nasal bridge, Pectus excavat... |
ORPHA:96167 |
| Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... |
ORPHA:2911 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Wide nose, Hearing impairment, Pulmonic stenosis, Tetr... |
ORPHA:251076 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Abnormality of the calcaneu... |
ORPHA:163966 |
| Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Short lower limbs, Pectus excavatum, Pectus carinatum, Dispropo... |
OMIM:259440 |
| Leopard Syndrome 3 |
|
Shield chest, Depressed nasal bridge, Growth delay, Short stature, Abnormal mitral valve morpholo... |
OMIM:613707 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Metatarsus adductus, Pectus excavatum, Vertebral fusion, Hyperextensible hand joints, Short nose,... |
OMIM:227330 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Short stature, M... |
OMIM:615355 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Short stature, Irregular vertebral endplates, Multiple joint disloca... |
OMIM:618395 |
| Orofaciodigital Syndrome Viii |
|
Broad nasal tip, Polydactyly, Short stature, Syndactyly, Bifid nasal tip, Short tibia |
OMIM:300484 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Convex nasal ridge, Intrauterine growth retardation, Short stature, Craniosynostosi... |
ORPHA:2145 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
| Hurler Syndrome |
|
Short stature, Hearing impairment, Camptodactyly of finger, Anteverted nares, Hypertension, Depre... |
ORPHA:93473 |
| Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Fused cervical vertebrae, Hip d... |
ORPHA:530983 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Short stature, Abnormal form of the vertebral bodies, Short nose, Pes planu... |
ORPHA:2308 |
| Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Ventricular septal defect, Micrognathia, Pectus excav... |
ORPHA:2789 |
| Timothy Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Prolonged QT interval, Cardiomegaly, Bradycard... |
OMIM:601005 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
| Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Chronic otitis media, Short nose, Hearing impairment, Finger syndactyly, Ca... |
ORPHA:1507 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Short stature, Delayed closure of the anterior fontane... |
OMIM:605274 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Short stature, Bowing of ... |
ORPHA:2097 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... |
OMIM:602111 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Hemivertebrae, Aphalangy of hands and feet, Aplasia of the phalanges o... |
OMIM:207620 |
| Osteopathia Striata With Cranial Sclerosis |
|
