| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Cardiomyopathy, Multicystic kidney dysplasia, Atrial ... |
ORPHA:1909 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Renal cyst, Mesome... |
OMIM:228940 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, ... |
OMIM:231060 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Asplenia, Annular pancreas, Atr... |
ORPHA:210122 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Short distal phalanx of... |
OMIM:601355 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Restrictive ventilatory defect, Muscle fiber hypertrophy, Skeletal muscle a... |
ORPHA:178464 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Short nose, Prominent n... |
ORPHA:401935 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
| Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Abnormality of the endocrine system, Truncus arteriosus, Renal agenesis |
OMIM:274210 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Abnormal respiratory system physiology, Respiratory insufficiency,... |
ORPHA:266 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Renal agenesis,... |
ORPHA:2516 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
OMIM:300717 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Micrognathia |
OMIM:601348 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Dou... |
OMIM:220210 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... |
ORPHA:295 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Adrenal insufficiency, Hydronephrosis, Wide nose, Pulmonic stenosis, T... |
ORPHA:251076 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Anteverted... |
OMIM:613124 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Anemi... |
ORPHA:3405 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Truncus arteriosus, Asplenia, Situs inversus... |
OMIM:615415 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Ventricular septal defect, Microg... |
OMIM:601186 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Truncus arteriosus, Malar flattening |
OMIM:611867 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalig... |
OMIM:265380 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... |
ORPHA:254361 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Dista... |
OMIM:619042 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Edema, Coarctation of aorta, Anemia, Hepatosplenomegaly, Atrial septal... |
ORPHA:101028 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
| Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Hydrocele test... |
OMIM:601927 |
| Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Micrognathia |
ORPHA:1918 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Hyperoxemia, Central apnea, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Micrognathia, Br... |
OMIM:609029 |
| Robinow Syndrome |
|
Short nose, Micropenis, Anteverted nares, Webbed penis, Ventricular septal defect, Micrognathia, ... |
ORPHA:97360 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Micrognathia, Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Hypogonadism, Abnormality ... |
OMIM:608540 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Shoulder girdle muscle ... |
OMIM:609456 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... |
OMIM:618845 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Hydrop... |
OMIM:613673 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter, Short nose, Polyhydramnios, Anteverted nares |
ORPHA:1450 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Depressed nasal bridge, Double... |
ORPHA:3426 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Stankiewicz-Isidor Syndrome |
|
Hypospadias, Prominent nose, Pineal cyst, Ventricular septal defect, Truncus arteriosus, Ureteral... |
OMIM:617516 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Double outlet ri... |
OMIM:179613 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Rowley-Rosenberg Syndrome |
|
Right ventricular hypertrophy, Pulmonary arterial hypertension, Reduced subcutaneous adipose tiss... |
OMIM:268500 |
| Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Respi... |
OMIM:609524 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Cardiac Valvular Defect, Developmental |
|
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis... |
OMIM:212093 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hydrops fetalis, Ascites, Pulmonic stenosis |
OMIM:619433 |
| Mulibrey Nanism |
|
Pericardial constriction, Depressed nasal bridge, Ascites, Hypoplastic frontal sinuses, Wide nose... |
OMIM:253250 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormality of the urinary system, Abno... |
ORPHA:1041 |
| Sonoda Syndrome |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:270460 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, Respiratory insufficiency due to muscle weakness, EMG: myop... |
ORPHA:399058 |
| Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Respiratory insufficiency, Weakness of facial musculature, Internally nucleated skeletal muscle f... |
OMIM:618654 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Premature birth, Anemia, Patent ductus arteriosus, Polyhydramnios, Renal hypoplasia/apla... |
ORPHA:2123 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... |
ORPHA:98913 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Weakness of facial musculature, Shoulder girdle muscle weakness, Scapula... |
OMIM:619477 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Micrognathia, Aplasia/Hypoplasia of the maxilla, Aplasia/hypoplasia involving... |
ORPHA:40366 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia, Edema, Decreased... |
OMIM:607598 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Micrognathia... |
OMIM:616897 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Micrognathia, Abnormal heart morphology, Micropenis, Cryptorchidism, Microphallus, Trismus |
OMIM:218450 |
| Chime Syndrome |
|
Depressed nasal ridge, Ventricular septal defect, Hydronephrosis, Aplasia/Hypoplasia of the phala... |
ORPHA:3474 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Micrognathia, Fetal akinesia sequence, Hypoplasia of the thymus, Cardi... |
OMIM:617022 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
| Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Short nose, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... |
ORPHA:1200 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Tetralogy of Fallot, Perineal hypospadias, Cryptorchidism, Mic... |
OMIM:615542 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Foot oligodactyly |
OMIM:616589 |
| Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia |
OMIM:218010 |
| Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
| Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Nephrotic syndrome, Premature birth, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly,... |
OMIM:269920 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Fetal akinesia sequence, Microp... |
OMIM:618815 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
| Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
| Achondrogenesis |
|
Micrognathia, Short nose, Polyhydramnios, Thickened nuchal skin fold, Anteverted nares, Micromeli... |
ORPHA:932 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Premature birt... |
ORPHA:2256 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Increased circulating gonadotropin level, Atrial septal defect, Pulmon... |
OMIM:301030 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Varicose veins, Atr... |
OMIM:617300 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Wi... |
OMIM:618316 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Broad nasal tip, Micrognathia, Wide nasal bri... |
OMIM:615524 |
| Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, Respiratory insufficiency due to muscle weakness, EMG: ... |
ORPHA:171442 |
| Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognath... |
ORPHA:1919 |
| Achondrogenesis Type 1A |
|
Micrognathia, Short nose, Polyhydramnios, Thickened nuchal skin fold, Short foot, Short palm, Ant... |
ORPHA:93299 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Asbestos Intoxication |
|
Wheezing, Hypoxemia, Restrictive ventilatory defect, Atelectasis, Interlobular septal thickening,... |
ORPHA:2302 |
| Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Hb Bart'S Hydrops Fetalis |
|
Preeclampsia, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Oligohydra... |
ORPHA:163596 |
| Achondrogenesis Type 1B |
|
Micrognathia, Short nose, Polyhydramnios, Thickened nuchal skin fold, Short foot, Anteverted nare... |
ORPHA:93298 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... |
OMIM:617478 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter, Pulmonic stenosis |
OMIM:264140 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Anemia, Hydrops fetalis |
OMIM:236750 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
| Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
| Glycogen Storage Disease Iv |
|
Ascites, Edema, Decreased fetal movement, Tubulointerstitial fibrosis, Cardiomyopathy, Polyhydram... |
OMIM:232500 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Hydronephrosis, Microg... |
ORPHA:1727 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypoplastic nasal tip, Micrognathia, Persistent left superior vena cava, Double outlet right vent... |
ORPHA:3304 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, T... |
OMIM:300580 |
| Distal Monosomy 19P13.3 |
|
Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... |
ORPHA:96129 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Limb undergrowth, Polyhydramnios, Splenomegaly, Hydrops fetalis |
ORPHA:2204 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Myopathy, Respiratory distress |
ORPHA:91130 |
| Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Premature birth, Malar flattening, Short ribs, Polyhydramnios, Micromelia, Hydrops ... |
OMIM:215045 |
| Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Premature birth, D... |
ORPHA:96170 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly, Pleural effusion, Hydrops fetalis |
ORPHA:2414 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Short nose, Patent ductus arteri... |
ORPHA:261120 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... |
ORPHA:238329 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Cough, Left ventricular hypertrophy, Muscular... |
ORPHA:86812 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Fetal Trimethadione Syndrome |
|
Hypospadias, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Short nose, Transpo... |
ORPHA:1913 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Klippel-Trénaunay Syndrome |
|
Ascites, Edema, Abnormal tricuspid valve morphology, Hematuria, Patent ductus arteriosus, Atrial ... |
ORPHA:90308 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
| Nuchal Bleb, Familial |
|
Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
| Bethlem Myopathy 2 |
|
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short toe |
OMIM:615297 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
| Neuraminidase Deficiency |
|
Cherry red spot of the macula, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomeg... |
OMIM:256550 |
| Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
| German Syndrome |
|
Cor pulmonale, Arthrogryposis multiplex congenita, Lymphedema |
OMIM:231080 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Premature birth, Polyhydramnios, Oligohydramnios, Tetralogy of Fallot, Mult... |
ORPHA:3033 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... |
OMIM:612937 |
| Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:185 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Wide nasa... |
OMIM:612541 |
| Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
| Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hypoplasia... |
OMIM:613390 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Endocardial fibroelastosis, Hand oligodactyly, Hydrops fetalis |
OMIM:276822 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... |
OMIM:619313 |
| 17Q21.31 Microduplication Syndrome |
|
Micrognathia, Short nose, Malar flattening, Anteverted nares, Delayed puberty |
ORPHA:217340 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
OMIM:608423 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the thymus, Polyhydramnios, Enamel hypoplasia, Autoimmun... |
OMIM:243150 |
| Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Micr... |
ORPHA:1926 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Trisomy 1Q |
|
Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Congenital megaureter, Wide no... |
ORPHA:261344 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose |
ORPHA:2015 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
OMIM:300718 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Asplenia, Mitral atres... |
OMIM:306955 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Skeletal muscle atrophy |
ORPHA:2400 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema |
OMIM:618773 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly, Hydrops fetalis |
OMIM:618052 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Micrognathia, Asplenia... |
ORPHA:99776 |
| Pallister-Hall-Like Syndrome |
|
Micrognathia, Depressed nasal bridge, Abnormal heart morphology, Renal dysplasia, Short nose, Sho... |
OMIM:241800 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Hydroureter, Short nose, Patent ductus arteriosus, Polyhydramnios, Abnormality of t... |
ORPHA:2547 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Short nose, Malar flattening, Atrial septal defect, Bulbous nose, Shor... |
OMIM:613458 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the kidney, Micrognathia |
OMIM:616901 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Convex nasal ridge, Mesomelia, Abnormal mitral valve morphology |
ORPHA:1277 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Generalized abnormality of skin, Asthma, Parenchymal consolidation... |
ORPHA:2902 |
| Lymphatic Malformation 1 |
|
Nonimmune hydrops fetalis, Hypoplasia of lymphatic vessels, Urethral stricture, Prominent superfi... |
OMIM:153100 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Congenital muscular dystrophy, Nocturnal hypoventilation, Increased variability in ... |
OMIM:616470 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Depressed nasal bridge, Ascites, Edema, Ma... |
OMIM:265300 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Abnormal heart morphology... |
ORPHA:2209 |
| Achondrogenesis, Type Ib |
|
Edema, Malar flattening, Short ribs, Polyhydramnios, Breech presentation, Micromelia, Hydrops fet... |
OMIM:600972 |
| Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
| Lymphatic Malformation 6 |
|
Micrognathia, Nonimmune hydrops fetalis, Ascites, Hydrocele testis, Edema, Chylothorax, Genital e... |
OMIM:616843 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Vascular dilatation, Anteverted nares, Dec... |
OMIM:616430 |
| Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
| Acrocardiofacial Syndrome |
|
Hypospadias, Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis... |
ORPHA:2008 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Pan... |
OMIM:600001 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
| Trisomy 13 |
|
Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Malar flattening, Patent du... |
ORPHA:3378 |
| Mmep Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cryptorchidism |
ORPHA:3434 |
| Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... |
OMIM:615382 |
| 3C Syndrome |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Hypoplasia of pen... |
ORPHA:7 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis, Depressed nasal bridge, Hypogonadism, Adrenal hypoplasia, Cryptorchi... |
ORPHA:85173 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory dist... |
ORPHA:2140 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis |
OMIM:616726 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:618138 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Cardiomyopathy, Lacticaciduria |
OMIM:619003 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Chronic pulmonary obstruction, Pro... |
ORPHA:437572 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
| Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Generalized amyotrophy, Facia... |
OMIM:602771 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Depressed nasal ridge, Cherry red spot of th... |
OMIM:230500 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Te... |
ORPHA:1166 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Long nose, Renal tubular acidosis, Hematu... |
OMIM:610205 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
| Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, ... |
ORPHA:244 |
| Femoral-Facial Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Maternal diabetes, Truncus arteriosus, Rena... |
OMIM:134780 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass opacificati... |
OMIM:610978 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Respiratory distress, Myopathy, Atelectasis |
OMIM:300219 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Renal tubular dysfunction, Double outlet right ventricle, Decreased fetal movemen... |
OMIM:614886 |
| Coffin-Siris Syndrome 10 |
|
Anteverted nares, Persistence of primary teeth, Ventricular septal defect |
OMIM:618506 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Pneumonia, Respiratory distress, Type 1 fibers relatively smaller... |
ORPHA:596 |
| Bowen Syndrome Of Multiple Malformations |
|
Hypospadias, Abnormal heart morphology, Micrognathia |
OMIM:211200 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Prune Belly Syndrome |
|
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Xerostomia, Abnormal heart m... |
OMIM:100100 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Long nose, Patent duc... |
OMIM:613680 |
| Sialidosis Type 2 |
|
Ascites, Splenomegaly, Nephropathy, Pedal edema, Hydrops fetalis |
ORPHA:87876 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Telangiectasia of the skin, Cutaneous photosensitivity, Retinal ... |
ORPHA:438134 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Bronchogenic Cyst |
|
Pneumonia, Cough, Abnormality of the diaphragm, Dyspnea, Abnormal pulmonary thoracic imaging find... |
ORPHA:2357 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis, Camptodactyly of finger |
ORPHA:896 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Short nose, Depressed nasal bridge, Retrognathia |
OMIM:614069 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Short nose, Prominent nasal bridge, Patent ductus arteriosus, Micropen... |
OMIM:613870 |
| Congenital Enterovirus Infection |
|
Myocarditis, Fetal ascites, Fetal distress, Leukocytosis, Neutropenia, Pericardial effusion, Leuk... |
ORPHA:292 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
| Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Emphysema, Flexion contracture |
ORPHA:171719 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Micrognathia, Mandibular aplasia, Short nose, Retrognathia, Anteverted nares |
ORPHA:1832 |
| Tetralogy Of Fallot |
|
Cryptorchidism, Tetralogy of Fallot, Abnormal nasal morphology |
ORPHA:3303 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... |
OMIM:616816 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal localization of kidney, Abnormal card... |
ORPHA:83473 |
| Microgastria-Limb Reduction Defects Association |
|
Cystic renal dysplasia, Horseshoe kidney, Hand oligodactyly, Asplenia, Phocomelia, Pelvic kidney,... |
OMIM:156810 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Depressed nasal bridge, Fetal akinesia sequence, Decreased fetal movem... |
ORPHA:85212 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short thumb, Short middle phalanx of the 2nd finger, Short middle phal... |
OMIM:614326 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Short lower limbs, Small hand, Pulmonic stenosis, Abnormal heart valve morphology, Short palm |
OMIM:126190 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Resp... |
OMIM:255320 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, R... |
OMIM:605355 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
| Non-Distal Trisomy 10Q |
|
Micrognathia, Convex nasal ridge, Depressed nasal bridge, Abnormality of the urinary system, Shor... |
ORPHA:1695 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
| Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
| Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc... |
OMIM:155050 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Dehydration, Dicarboxylic aciduria, Pulmonic stenosis |
ORPHA:79159 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
| Fraser Syndrome 3 |
|
Micrognathia, Convex nasal ridge, Wide nose, Hypoplasia of the bladder, Short toe, Hydrops fetalis |
OMIM:617667 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
| Burn-Mckeown Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, Mandibular ... |
OMIM:608572 |
| Boomerang Dysplasia |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Aplasia/Hypoplasia of the ... |
ORPHA:1263 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Micrognathia, Mitral valve prolapse, Increased mean... |
OMIM:612561 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Abnormal ... |
ORPHA:98905 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Wide nasal bridge, Bulbous nose, Dysplastic pulmonary valve, Anteverted nares, Precocious puberty |
OMIM:300958 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Short nose, Renal cyst, Wide nasal bridge, Short 5th finger, Ab... |
OMIM:615583 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Maternal hypertension, Hydronephrosis |
ORPHA:2669 |
| Cholesterol Pneumonia |
|
Tachypnea, Cyanosis, Cough, Pneumonia |
OMIM:215030 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis, Skeletal muscle atrophy |
OMIM:252320 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Mcdonough Syndrome |
|
Prominent nose, Ventricular septal defect, Micrognathia, Mandibular prognathia, Pulmonic stenosis... |
OMIM:248950 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... |
OMIM:613759 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Premature birth, Anemia, Cardiomegaly, Decreased circulating cortisol ... |
OMIM:618838 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Absent radius, Transposition of ... |
OMIM:314390 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Incre... |
OMIM:616867 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Ventricular hypertrophy, Prominent nasal bridge, Atr... |
OMIM:612946 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Malar flattening, Micrognathia |
ORPHA:1388 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Short middle phalanx of finger, Short thumb |
ORPHA:391646 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Low hanging columell... |
OMIM:618494 |
| Mental Retardation, X-Linked 91 |
|
Short foot, Short nose, Small hand, Short 5th finger |
OMIM:300577 |
| Methimazole Embryofetopathy |
|
Hypospadias, Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Polyhyd... |
ORPHA:1923 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Ventricular septal defect, Hydronephrosis, Micrognathia, Ascites, Mal... |
OMIM:235255 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Pericardial effusion, Ascites, Edema, Decreased fetal movement, Short nos... |
OMIM:608776 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Micrognathia, Rhizomelia, Anemia, Wide nasal bridge, Small hand, Lef... |
OMIM:611209 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect, Micrognathia |
OMIM:608227 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
| Achondrogenesis, Type Ia |
|
Short clavicles, Depressed nasal bridge, Hypoplastic scapulae, Short nose, Short ribs, Polyhydram... |
OMIM:200600 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Serkal Syndrome |
|
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Pulmonic steno... |
ORPHA:139466 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Abnormal heart morphology, Limb undergrowth, Spontaneous abortion, Wide nasal bridg... |
ORPHA:1865 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Maternal dia... |
ORPHA:860 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormality of the nares, Polyhydramnios |
ORPHA:3469 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Micrognathia, Abnormal heart morphology, Premature sternal synostosis, Short sternum, Cryptorchidism |
OMIM:184800 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... |
ORPHA:91359 |
| Gaucher Disease, Perinatal Lethal |
|
Micrognathia, Nonimmune hydrops fetalis, Depressed nasal bridge, Ascites, Premature birth, Decrea... |
OMIM:608013 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Renal agenesis, Truncus arteriosus... |
ORPHA:508498 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micrognathia, Short middle phalanx of finger, Wide nasal bridge, Micropenis, Abnorma... |
OMIM:612626 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe, Short nose, Atria... |
OMIM:619356 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Depressed nasal ridge, Hydronephrosis, Micrognathia, Decreased fetal movement, Renal atrophy, Cry... |
OMIM:618578 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Horseshoe kidney, Ventricular septal defect, Depressed nasal bridge, Mandibular prog... |
OMIM:619103 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Leukopenia, Double outlet right ventricle... |
OMIM:301056 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Hydronephrosis, Narrow nose, Depressed nasal bridge, Micrognathia, Coarctation ... |
OMIM:618454 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia, Short n... |
OMIM:228520 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Micropenis, Microretrognathia |
OMIM:618021 |
| Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Coarctation of aorta, Bifid nose, Short palm, Ectopic ki... |
ORPHA:268249 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Autosomal Recessive Amelia |
|
Amelia, Micrognathia, Amelia involving the upper limbs, Polyhydramnios, Abnormal cardiac septum m... |
ORPHA:1027 |
| Platyspondylic Dysplasia, Torrance Type |
|
Depressed nasal bridge, Hypoplastic scapulae, Malar flattening, Polyhydramnios, Short foot, Short... |
ORPHA:85166 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Respiratory insufficiency, Respiratory insufficiency due to muscle weakne... |
OMIM:255310 |
| Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Polyhydramnios, Vesicoureteral reflux |
OMIM:613674 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, 11 pairs of ribs, Tetralogy of Fallot, Lymphopenia, Th... |
OMIM:618624 |
| Alg9-Cdg |
|
Hypoplastic nipples, Short nose, Abnormal left ventricular outflow tract morphology, Hypoplasia o... |
ORPHA:79328 |
| Endocardial Fibroelastosis |
|
Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy, Anterior hypopituitarism, C... |
ORPHA:2022 |
| Rhizomelic Syndrome |
|
Micrognathia, Rhizomelia, Pulmonic stenosis |
OMIM:268250 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Premature birth, Pelvic kidney, Glomer... |
ORPHA:93101 |
| Ohdo Syndrome |
|
Micrognathia, Depressed nasal bridge, Short nose, Wide nasal bridge, Hypoplasia of teeth, Antever... |
OMIM:249620 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Obstructive sleep apnea, Fatty replacement of skeletal muscl... |
OMIM:618823 |
| Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Depressed nasal bridge, Premature birth, Rhizomelia, Short nose, Coarctation of aor... |
ORPHA:50945 |
| Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Ascending tubular aorta aneurysm, Uret... |
OMIM:270100 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal hypoplasia, Micrognathia, Renal agenesis, Depressed nasal bridge, Short nose, ... |
ORPHA:171839 |
| Gm1 Gangliosidosis |
|
Depressed nasal ridge, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Cherry... |
ORPHA:354 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge, Abnormal heart morpholo... |
ORPHA:284169 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Malar flattening, Delayed eruption of teeth, Ectopic kidney, Lymphedema, Ventricular septal defec... |
OMIM:235510 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Abnormal heart morphology, Short nose |
DECIPHER:52 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Patent ductus arteriosus, Microp... |
OMIM:618142 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Right ventricular hypertrophy, Wide nose, Short nose, Atrial septal de... |
OMIM:614261 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Abnormal coronary artery morphology, Coarctation o... |
ORPHA:980 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| Polyvalvular Heart Disease Syndrome |
|
Prominent nose, Micrognathia, Mitral valve prolapse, Pulmonic stenosis, Abnormal heart valve morp... |
ORPHA:228410 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Wide nose, Short nose, Patent du... |
OMIM:613457 |
| Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Horseshoe kidney, Depressed nasal bridge, Pericardial effusion, Ascit... |
ORPHA:2136 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Short nose, Small hand, Wide nasal bridge, Atr... |
OMIM:145420 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal cardiac septum morphology |
ORPHA:2370 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Micrognathia, Midshaft hypospadias, Wide nasal bridge, Patent ductus arteriosus, De... |
ORPHA:2863 |
| Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Oligohydramnios, Throm... |
OMIM:617021 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Limb undergrowth, Short nose, Hepatosplenomegaly, Abnormal renal morphology |
ORPHA:221054 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Respiratory insufficiency, Torticollis, Respiratory insufficiency due... |
OMIM:254090 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose, Malar flattening, Retrognathia, Enuresis |
OMIM:613670 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Carious teeth, Truncus arteriosus, Hypoplasia of the thymus, Abnormal dental enamel ... |
ORPHA:567 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Depressed nasal ridge, Short nose, Bifid nasal tip, Recurrent urinary tract inf... |
OMIM:616854 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Ventricular septal defect, Micrognathia, Atrioventricular canal defect, Wide nasal bridge, Absent... |
OMIM:600123 |
| 46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... |
OMIM:618901 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect, Limb undergrowth, Overhang... |
OMIM:619142 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Depressed nasal ridge, Micrognathia, Abnormality of the ureter, Ascites, Anemia, Pol... |
ORPHA:1046 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Depressed nasal bridge, Pulmonic stenosis, Atrial septal defect, Bul... |
OMIM:618499 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Micrognathia, Aminoaciduria, Abnormal heart morphology, Hypoplasia of the thymus, Polycystic kidn... |
OMIM:214110 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short 5th metacarpal, Short nose, Perimembranous ventricular septal defect, Pulmonic stenosis, Tr... |
OMIM:617877 |
| Digeorge Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Truncus arteriosus, Micrognat... |
OMIM:188400 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability i... |
OMIM:619334 |
| Tetraploidy |
|
Hydronephrosis, Convex nasal ridge, Micrognathia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of... |
ORPHA:3305 |
| Johanson-Blizzard Syndrome |
|
Dextrocardia, Hypospadias, Hydronephrosis, Underdeveloped nasal alae, Edema, Short nose, Anemia, ... |
ORPHA:2315 |
| Autosomal Dominant Omodysplasia |
|
Micrognathia, Depressed nasal bridge, Rhizomelia, Short nose, Malar flattening, Short 1st metacar... |
ORPHA:93328 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Dep... |
OMIM:610733 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Short foot, Atrial septal defect, Vesicoureteral re... |
ORPHA:228399 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, Respiratory insufficiency d... |
ORPHA:486815 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Intercostal muscle weakness, Respiratory insufficiency, Myositis, Ma... |
ORPHA:258 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Premature birth, Limb undergrowt... |
OMIM:608149 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Polyhydramnios, Atrial septal defect, Anteverted nares |
OMIM:263630 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Aplastic clavicle, Short ribs, Polyhydramnios, Micropenis, Atrial septal ... |
OMIM:616546 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
| Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
| Pentasomy X |
|
Micrognathia, Small hand, Wide nasal bridge, Patent ductus arteriosus, Short foot, Abnormal cardi... |
ORPHA:11 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Broad nasal tip, Depressed nasal bridge, Double outlet right ventricle, Paten... |
OMIM:618223 |
| Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
| Hypertelorism And Tetralogy Of Fallot |
|
Hypospadias, Depressed nasal bridge, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of ... |
OMIM:239711 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Hypospadias, Abnormal aortic morphology, Micrognathia, Atrioventricu... |
ORPHA:251071 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
| Peho-Like Syndrome |
|
Edema, Short nose, Retrognathia |
OMIM:617507 |
| Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level |
OMIM:125700 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Small hand, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:2868 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Renal agenesis, Double outlet right ventricle, Hypogonadotropic hypogonad... |
ORPHA:2326 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Thrombocytosis,... |
ORPHA:84064 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... |
OMIM:616730 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Codas Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Short nose, Abnormal dental enamel morphology,... |
ORPHA:1458 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short nose, Short columella... |
ORPHA:1248 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Abnormal hemidiaphragm morpholog... |
ORPHA:2257 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Increased urinary potassium, Premature birth, Edema, Decreased glomerular filtrat... |
OMIM:602522 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Micrognathia, Broad nasal tip, Short nose, Wide nasal bridge, Mesomelia, A... |
OMIM:618529 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Premature birth, Malar ... |
ORPHA:261330 |
| Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Long nose, Abnormality of the urinary system, Wide nose, Patent ductus arteriosus, Tetralogy of F... |
ORPHA:2184 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
| Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous fistula, Lymphedema, Nonimmune hydrops fetalis, Abnormal heart morphology, Abnormal... |
ORPHA:137667 |
| Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Hypothyroi... |
OMIM:619189 |
| Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Maternal diabetes, Fetal distress |
ORPHA:45452 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Abnormality of the ureter, Congenital posterior urethral valve, Patent... |
ORPHA:2970 |
| Orofaciodigital Syndrome Xv |
|
Anteverted nares, Hydronephrosis, Wide nasal bridge |
OMIM:617127 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Low hanging columella, C... |
OMIM:272440 |
| Perlman Syndrome |
|
Micrognathia, Short nose, Wide nasal bridge, Anteverted nares, Retrognathia, Abnormal pancreas mo... |
ORPHA:2849 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Polysplenia, Apl... |
OMIM:201000 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Short middle phalanx of finger, Tricus... |
ORPHA:391641 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Hydronephrosis, Broad nasal tip, Prominent nasal bridge, Patent ductus... |
ORPHA:457193 |
| Grange Syndrome |
|
Ventricular septal defect, Short palm, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Miller-Dieker Syndrome |
|
Short nose, Anteverted nares, Nephropathy, Polyhydramnios |
ORPHA:531 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Malar flattening, Wide nasal bridge, Bulbous nose, Atrial septal defect |
ORPHA:93946 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Muscular dystrophy, Muscle fib... |
OMIM:253700 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... |
ORPHA:119 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... |
OMIM:610913 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
| Kleefstra Syndrome |
|
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Mandibular prognat... |
ORPHA:261494 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Underdeveloped nasal alae, Ventricular septal defect, Neutropenia, Depressed nasal b... |
ORPHA:163956 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Carious teeth, Short nose, Pulmonic stenosis, Anteverted nares, Cryp... |
ORPHA:2701 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Mandibular prognathia, Abnormal heart morphology, Short nose, Prominent nasolabi... |
ORPHA:391372 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Pedal edema, Peripheral arte... |
OMIM:126320 |
| Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Prominent nose, Ventricular septal defect, Ascending tubular aorta aneurysm, Depress... |
OMIM:601808 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
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Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
| Distal Trisomy 5Q |
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Dextrocardia, Hypospadias, Ventricular septal defect, Carious teeth, Micrognathia, Aplasia/Hypopl... |
ORPHA:96097 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Ascites, Hydrocele testis, Abnormality of the lymphatic system, Palpebral edema, Pleural effusion... |
ORPHA:69735 |
| Craniosynostosis, Herrmann-Opitz Type |
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Micrognathia, Convex nasal ridge, Short nose, Malar flattening, Abnormality of the urethra, Oligo... |
ORPHA:2145 |
| Blackfan-Diamond Anemia |
|
Hypospadias, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Reticulocytopenia, Ventricul... |
ORPHA:124 |
| Gaucher Disease Type 3 |
|
Pericardial effusion, Mitral valve calcification, Hematuria, Anemia, Splenomegaly, Abnormal heart... |
ORPHA:77261 |
| Timothy Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent ductus arteriosus, Tetral... |
OMIM:601005 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Small hand, Pate... |
OMIM:612863 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Amelia, Abnormality of the spleen, Horseshoe kidney, Renal agenesis, Truncus arteriosus, Phocomel... |
ORPHA:2538 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Neutropenia, Anemia, Short middle phalanx of the 4th finger, Congenital thrombocytopenia, Thrombo... |
OMIM:616738 |
| Penile Agenesis |
|
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Maternal diabetes,... |
ORPHA:49 |
| Distal Trisomy 18Q |
|
Carious teeth, Micrognathia, Short nose, Prominent nasal bridge, Thickened nuchal skin fold, Choa... |
ORPHA:1716 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumoni... |
OMIM:610921 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Nephrocalcinosis, Right ventricular hypertrophy, Renal t... |
OMIM:208085 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Hydronephrosis, Micrognathia, Abnormality of the urinary system, Abnormal heart mor... |
ORPHA:96092 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Single umbilical artery, Hypoplastic left heart, Cryptorchidism, Hypop... |
ORPHA:2772 |
| Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Neutropenia, Ascites, Iron deficiency anemia, Double outlet right ventric... |
ORPHA:1667 |
| Woods Syndrome |
|
Low hanging columella, Ventricular septal defect, Wide nasal bridge, Supernumerary nipple |
OMIM:615236 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... |
OMIM:618348 |
| Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Micrognathia, Wide nose, Bifid nasal tip |
ORPHA:398156 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Horseshoe kidney, Neutropenia, Increased mean corpu... |
OMIM:612562 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Short nose, Malar flattening |
OMIM:122880 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Short nose, Wide nasal bridge, Short foot, Short metacarpal, Short toe |
OMIM:614078 |
| Zellweger Syndrome |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Pre... |
ORPHA:912 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Ventricular septal defect, Hydronephrosis, Broad nasal tip, Micrognat... |
ORPHA:1655 |
| Greenberg Dysplasia |
|
Malar flattening, Short ribs, 11 pairs of ribs, Hepatosplenomegaly, Hypoplasia of the maxilla, Hy... |
OMIM:215140 |
| Gm1 Gangliosidosis Type 1 |
|
Broad nasal tip, Depressed nasal bridge, Cherry red spot of the macula, Cardiomyopathy, Hepatospl... |
ORPHA:79255 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, Ventricular septal defect, Wide nasal bridge, Atrial septal defect, Cryptorchidis... |
OMIM:618950 |
| Trisomy 17P |
|
Urethral valve, Hydronephrosis, Prominent nose, Micrognathia, Hypoplasia of penis, Urethral steno... |
ORPHA:261290 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Micrognathia, Wide nasal bridge, Hypoplasia of the radius, Shor... |
OMIM:311900 |
| Fryns Syndrome |
|
Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morphology, Hydronephrosis, Microgn... |
ORPHA:2059 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Ascites, Hypoplastic scapulae, Renal cyst, Short ribs, Polycystic ... |
OMIM:614091 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Pulmonic stenosis, Polyuria, Hypercalciuria, Aortic valve sten... |
OMIM:143880 |
| German Syndrome |
|
Micrognathia, Depressed nasal bridge, Wide nasal bridge, Tetralogy of Fallot, Abnormal cardiac se... |
ORPHA:2077 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Central hypoventilation, ... |
ORPHA:171881 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal heart valve ... |
OMIM:253220 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... |
ORPHA:397744 |
