| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Progeroid facial appearance, Premature skin wrinkling, Femoral bowing,... |
OMIM:231070 |
| Asbestos Intoxication |
|
Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick... |
ORPHA:2302 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Neonatal death, Bowing of the long bones, ... |
OMIM:619751 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... |
OMIM:184260 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, T... |
ORPHA:70589 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, Scoliosis |
OMIM:617055 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... |
OMIM:610921 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Premature skin wrinkling |
ORPHA:101028 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Short nec... |
OMIM:601559 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Dermatoleukodystrophy |
|
Progeroid facial appearance, Large hands, Premature skin wrinkling |
OMIM:221790 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... |
ORPHA:896 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... |
OMIM:132400 |
| Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Palmoplantar keratoderma, Palmoplantar hyperhid... |
ORPHA:498359 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... |
ORPHA:2357 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea |
OMIM:267450 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi... |
OMIM:151210 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, R... |
ORPHA:536467 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Osteopenia, Premature skin wrinkling, Respiratory distress, Abnormal heart... |
ORPHA:363705 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Cutis laxa, Scoliosis, Premature skin wrinkling |
OMIM:614434 |
| Acrogeria |
|
Small hand, Skin ulcer, Prematurely aged appearance, Excessive wrinkled skin, Joint hypermobility... |
ORPHA:2500 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Premature skin wrinkling, Os odontoideum, Intrauterine growth retardation, Joint hype... |
OMIM:616603 |
| Odontochondrodysplasia |
|
Platyspondyly, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Respiratory distress, Death... |
ORPHA:166272 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Cog7-Cdg |
|
Abnormal heart morphology, Excessive wrinkled skin, Short neck, Adducted thumb, Long fingers, Abn... |
ORPHA:79333 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Respiratory distress, Ground-glass opacification, Cystic pattern on pulmonary HRCT, ... |
OMIM:610978 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:254361 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... |
ORPHA:439 |
| Elastoderma |
|
Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo... |
ORPHA:1209 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Prolonged neonatal jaundice, Genu valgum, Premature skin wrinkling |
ORPHA:631 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectasis, R... |
ORPHA:60032 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... |
OMIM:619773 |
| Meconium Aspiration Syndrome |
|
Transient pulmonary infiltrates, Aspiration pneumonia, Respiratory distress, Atelectasis, Intraut... |
ORPHA:70588 |
| Adams-Oliver Syndrome 4 |
|
Cutis marmorata, Umbilical hernia, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... |
ORPHA:922 |
| C1Q Deficiency 2 |
|
Atelectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower respiratory trac... |
OMIM:620321 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Progeroid facial appearance, Dense metaphyseal bands, Intrauterine growth retardation... |
ORPHA:50811 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Abnormal heart morpho... |
ORPHA:1143 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia, Death in infancy |
OMIM:254120 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... |
ORPHA:70587 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Redundant skin, Exc... |
ORPHA:1860 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm... |
ORPHA:2902 |
| Microphthalmia, Syndromic 8 |
|
Split foot, Premature skin wrinkling |
OMIM:601349 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... |
OMIM:615222 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility |
OMIM:300219 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... |
OMIM:100800 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly |
OMIM:615993 |
| Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... |
OMIM:212093 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... |
OMIM:610913 |
| Nicolaides-Baraitser Syndrome |
|
Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphology, Sandal gap, Exce... |
ORPHA:3051 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Respiratory distress, Flared elbow metaphyses, Limb undergrowth, Generalized osteoscl... |
ORPHA:1423 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:618354 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Dumbbell-shaped femur, Limitation of ... |
OMIM:156550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Arthrogryposis, Distal, Type 1A |
|
Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Arthrogryposis multipl... |
OMIM:108120 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Skin ulcer, Atelectasis, Generalized abnormality of skin, Osteomyelitis, Joint hyperm... |
ORPHA:2314 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Arthrogryposis Multiplex Congenita 5 |
|
Hand clenching, Scoliosis, Premature skin wrinkling, Elbow flexion contracture, Intrauterine grow... |
OMIM:618947 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Premature skin wrinkling, Intrauterine growth retardation... |
ORPHA:79325 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of the vertebral bod... |
ORPHA:2078 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Cutis Laxa-Marfanoid Syndrome |
|
Limitation of joint mobility, Emphysema, Abnormal heart valve morphology, Redundant skin, Arachno... |
ORPHA:171719 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Poor wound healing, Bruising susceptibility, Redundant skin, Mitral valve prolapse, G... |
OMIM:618000 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... |
ORPHA:1354 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type... |
OMIM:263000 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm... |
ORPHA:244 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Absent or minimally ossified vertebral bodies, Short neck, Narrow pelvis bo... |
ORPHA:66637 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... |
OMIM:265120 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Respiratory distress, Cone-shap... |
OMIM:617102 |
| Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... |
OMIM:620019 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Short Syndrome |
|
Radial deviation of finger, Slender long bone, Clinodactyly, Premature skin wrinkling, Intrauteri... |
OMIM:269880 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Sandal gap, Atelectasis, T... |
OMIM:613177 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Scoliosis, Clinodactyly |
OMIM:300934 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Bruising susceptibi... |
OMIM:612350 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Respiratory distress, Long palm, Arachnodactyly, Joint hyp... |
ORPHA:2759 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Dilatation of the ventricular cavity, Abnormal thoracic spine morphology, A... |
ORPHA:85438 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Respirator... |
OMIM:183900 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Dyspnea, Short neck |
ORPHA:1832 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Pulmonary hypoplasia, Short toe, Atelectasis, Short finger, Intrauterine gr... |
OMIM:269860 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Hip dislocation, Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin ... |
ORPHA:90348 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... |
OMIM:311300 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral bodies, Short long bone... |
OMIM:102370 |
| Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Osteopenia, Rhizomelia, Recurrent pneumonia, Micromelia, Respiratory distress, Gen... |
OMIM:613848 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Osteopenia, Progeroid facial appearance, Intrauterine gr... |
OMIM:608154 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Short toe, Atelectasis, Short finger, Respiratory d... |
ORPHA:333 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Recurrent respiratory infections, Peri... |
OMIM:601358 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Premature graying of hair, Dry skin, Vertebral segmentation defect, Prematurely aged a... |
ORPHA:2617 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
| Cog5-Cdg |
|
Joint contracture of the hand, Finger clinodactyly, Camptodactyly of finger, Premature skin wrink... |
ORPHA:263487 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Talipes equinovarus, Scoliosis, Camptodactyly of finger |
OMIM:614399 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lavage flu... |
OMIM:619611 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Avascular necrosis of ... |
ORPHA:1901 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Perimembranous ventricular septal defect, Atrial septal defect, Muscul... |
ORPHA:363444 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Osteopenia, Bruising susceptibility, Intrauterine growth retardation,... |
OMIM:612940 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal defect |
OMIM:620070 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Limitation of joint mobility, Hypopl... |
OMIM:607326 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator... |
ORPHA:3348 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling, Syndactyly |
ORPHA:1942 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu... |
OMIM:254210 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti... |
OMIM:620011 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cardiomyopathy, Respiratory distress, Lumbar hyperlordosis, Triceps weakness, Left ventricular hy... |
ORPHA:86812 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Abnormal pattern of ... |
ORPHA:77260 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... |
ORPHA:91359 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... |
OMIM:620233 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... |
ORPHA:1427 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypo... |
ORPHA:163966 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Neonatal death, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:612289 |
| Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Finger syndactyly, Facial wrinkling, Abnormal thumb morphology, S... |
ORPHA:93932 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology, Arachnodactyly, Cutis laxa, Hip dislocation |
OMIM:614100 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Diaphanospondylodysostosis |
|
Unossified sacrum, Tracheomalacia, Delayed vertebral ossification, Respiratory distress, Intraute... |
OMIM:608022 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... |
ORPHA:50251 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Ex... |
ORPHA:2032 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Prolonged neonatal jaundice, Atrial septal defect, Ventricula... |
OMIM:117550 |
| Heyn-Sproul-Jackson Syndrome |
|
Intrauterine growth retardation, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad ... |
OMIM:618724 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Abnormality of the hand,... |
ORPHA:1387 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... |
OMIM:305450 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Arthrogryposis, Distal, Type 2B1 |
|
Rocker bottom foot, Arthrogryposis multiplex congenita, Scoliosis, Camptodactyly of finger, Ulnar... |
OMIM:601680 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Intrauterine growth retardation, Left ventricular hypertrophy, Flexion cont... |
OMIM:616733 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Pericardial effusion, Bronchiectas... |
ORPHA:411703 |
| Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Abnormal pulmonary interstiti... |
OMIM:617180 |
| Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... |
OMIM:178500 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurre... |
OMIM:215150 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Decrease... |
OMIM:215140 |
| Ruvalcaba Syndrome |
|
Small hand, Kyphosis, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short ph... |
OMIM:180870 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Respiratory distress, Ventricular septal defe... |
OMIM:617895 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Rhizomelia, Respiratory distress, Lumbar hyperlordosis, Femoral bowing, Redundant ... |
OMIM:616482 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Spina bifida occulta |
OMIM:619227 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint contracture of fing... |
OMIM:151200 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Poor wound healing, Sandal gap, Bruising susceptibility, Abnormal heart valve morphology, Recurre... |
ORPHA:230851 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Osteopenia, Progeroid facial appearance, Joint hypermobility, Arachnodacty... |
ORPHA:75496 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Dyspnea, Recurrent ... |
ORPHA:60033 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress |
ORPHA:238329 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Scoliosis, Congenital contracture, Death in infancy |
OMIM:615042 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture, Hyporeflexia of upper limbs, Shoulder girdle m... |
ORPHA:2596 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation, Patent foramen ovale, Adducted thumb, Atri... |
ORPHA:89844 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Scoliosis, Camptodactyly of finger, Ulnar deviation of the hand or of... |
OMIM:114300 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Left ventricular hypertrophy, Death in infancy |
OMIM:616974 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... |
OMIM:611717 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Wrist hypermobility, Joint hypermobility, Hip dysplasia, Finger joint hyper... |
ORPHA:544503 |
| Vertical Talus, Congenital |
|
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis |
OMIM:192950 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Congenital hip dislocation, Osteopenia, Respiratory distress, Arachnodactyly, Multiple prenatal f... |
OMIM:271225 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Short neck, Broad phalanx, Bilate... |
ORPHA:56304 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory distress, Knee flexion... |
OMIM:608799 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy |
OMIM:300580 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... |
ORPHA:1145 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Respiratory distress, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrat... |
ORPHA:36238 |
| Progeroid Syndrome, Petty Type |
|
Short distal phalanx of finger, Intrauterine growth retardation, Redundant skin, Reduced subcutan... |
ORPHA:2963 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Choanal Atresia |
|
Tracheomalacia, Respiratory distress, Cyanosis, Polydactyly, Craniosynostosis, Recurrent respirat... |
ORPHA:137914 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Osteopenia, Progeroid facial appearance, Prominent veins on trunk, In... |
ORPHA:2962 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Pallor, Hypertrophic cardiomyopathy |
OMIM:613561 |
| Stüve-Wiedemann Syndrome |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... |
ORPHA:3206 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:261243 |
| Arterial Tortuosity Syndrome |
|
Arachnodactyly, Hip dislocation, Hypertrophic cardiomyopathy, Avascular necrosis of the capital f... |
ORPHA:3342 |
| Three M Syndrome 3 |
|
Slender long bone, Increased vertebral height, Joint hypermobility, Short neck, Prominent calcane... |
OMIM:614205 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo... |
OMIM:166250 |
| Congenital Vertical Talus |
|
Distal arthrogryposis, Rocker bottom foot, Equinus calcaneus, Achilles tendon contracture |
ORPHA:178382 |
| Ogden Syndrome |
|
Facial wrinkling, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Short neck, ... |
OMIM:300855 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... |
ORPHA:1302 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory distress, Hypertrophic cardiomyopathy, Respiratory tract infection, Card... |
ORPHA:365 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Pleural effusion, Cyanosis, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Short finger, Avascular ne... |
OMIM:190351 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect |
OMIM:614954 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Dermal translucency, Elbow flexion contracture, Intrauterine growth retardation, Exce... |
OMIM:614438 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Redundant skin, Patent foramen ovale, Muscular ventricular septal defect |
ORPHA:79324 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal... |
OMIM:618652 |
| Radio-Renal Syndrome |
|
Chylothorax, Micromelia, Abnormal form of the vertebral bodies, Respiratory distress, Pleural eff... |
ORPHA:3015 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Dry skin, P... |
ORPHA:226313 |
| Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... |
OMIM:224690 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m... |
ORPHA:740 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
| Keppen-Lubinsky Syndrome |
|
Recurrent pneumonia, Progeroid facial appearance, Premature skin wrinkling, Increased susceptibil... |
ORPHA:435628 |
| Laron Syndrome |
|
Short toe, Brachydactyly, Osteoarthritis, Prematurely aged appearance, Abnormality of the elbow |
ORPHA:633 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, D... |
ORPHA:178320 |
| Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Dyspnea, Abnorm... |
OMIM:612387 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Reduced bone mineral density, Recurrent fractures, Upper limb asymmetry, Excessive wrinkled skin |
ORPHA:137608 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Atrial septal defect, Ventricular ... |
OMIM:615996 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Campomelia, Cumming Type |
|
Clubbing of toes, Micromelia, Death in infancy, Bowing of the long bones, Brachydactyly, Prematur... |
ORPHA:1318 |
| Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Cyanosis, Redundant neck skin, Talipes equinovarus, Short ... |
ORPHA:3309 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorte... |
OMIM:300863 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Intrauterine growth retardation, Redundant skin, Excessive wrinkled s... |
OMIM:219200 |
| Restrictive Dermopathy 2 |
|
Overtubulated long bones, Respiratory distress, Intrauterine growth retardation, Cyanosis, Short ... |
OMIM:619793 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Progeroid facial appearance, Intrauterine growth retardation, Increas... |
ORPHA:357058 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... |
OMIM:611134 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Respiratory distress, Hypertrophic cardiomyopathy, Overlapping ... |
OMIM:619383 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... |
OMIM:143095 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Short neck, Advanced ossification of carpal bones, Flat acetab... |
OMIM:615777 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... |
ORPHA:199241 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Premature skin wrinkling, Emphysema, Premature gr... |
ORPHA:363618 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Recurrent pneumonia, Scoliosis |
ORPHA:254875 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Werner Syndrome |
|
Small hand, Subcutaneous calcification, Skin ulcer, Premature graying of hair, Joint stiffness, P... |
ORPHA:902 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Talipes equinovarus... |
OMIM:150250 |
| Wiedemann-Rautenstrauch Syndrome |
|
Clinodactyly, Prominent scalp veins, Dry skin, Reduced subcutaneous adipose tissue, Talipes equin... |
OMIM:264090 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Tracheomalacia, Cardiomyopathy, Respiratory distress, Redundant neck skin, Short ne... |
OMIM:217980 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Elbow dislocation, Prominent veins on trunk, Mitral valve prolapse, Arachnodactyly, Hip dislocati... |
ORPHA:536532 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Scimitar Syndrome |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypoplastic left... |
ORPHA:185 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Limitation of... |
ORPHA:93259 |
| Relapsing Polychondritis |
|
Erythema, Limitation of joint mobility, Atelectasis, Abnormal pattern of respiration, Abnormal ao... |
ORPHA:728 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Short tibia, Sanda... |
OMIM:607143 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Hypermobility of distal interphalangeal joints, Elbow flexion contrac... |
OMIM:615065 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Reduced subcutaneous adipose tissue, Synovitis, Irregular sclerotic endpla... |
ORPHA:3455 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... |
OMIM:123700 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis... |
OMIM:260400 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Lujo Hemorrhagic Fever |
|
Atelectasis, Respiratory distress, Stiff neck, Ecchymosis, Myocarditis, Purpura |
ORPHA:319213 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Cardiomyopathy, Hypoventilation, Hyperlordosis, Recurrent lower respiratory tract in... |
ORPHA:258 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Stillbirth |
OMIM:263630 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... |
ORPHA:3078 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Osteopenia, Slender long bone, Progeroid facial appearance, Muscular ... |
OMIM:278250 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Abno... |
ORPHA:500 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Intrauterine growth retardation, Brachydactyly, Short metatarsal, Advanced... |
OMIM:614613 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... |
OMIM:616749 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Atrial septal defect, Single ventricle, Tracheomalacia, Abnormal heart... |
ORPHA:95430 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Congenital hip dislocation, Recurrent pneumonia, Osteopenia, Po... |
OMIM:225400 |
| Nestor-Guillermo Progeria Syndrome |
|
Progeroid facial appearance, Pathologic fracture, Dry skin, Joint stiffness, Mandibular osteolysi... |
OMIM:614008 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Hadziselimovic Syndrome |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect |
OMIM:612946 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga |
OMIM:132450 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Hand clenching, Scoliosis, Kyphoscoliosis |
ORPHA:37612 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent pneumonia, Respiratory distress, Hypertrophic cardiomyopathy, Acetabular dysplasia, Dea... |
OMIM:617303 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis |
OMIM:244400 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Seckel Syndrome |
|
Cone-shaped epiphysis, Scoliosis, Sandal gap, Intrauterine growth retardation, Joint hypermobilit... |
ORPHA:808 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Pde4D Haploinsufficiency Syndrome |
|
Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f... |
ORPHA:439822 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... |
ORPHA:538 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... |
ORPHA:85167 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... |
OMIM:228900 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Hand clenching |
ORPHA:240103 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Bruising susceptibility, Mitral valve prolapse, Joint hypermobility |
OMIM:225320 |
| Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... |
OMIM:208530 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Avian Influenza |
|
Pneumonia, Respiratory distress, Ground-glass opacification, Pleural effusion, Pulmonary infiltra... |
ORPHA:454836 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... |
ORPHA:1826 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Abnormal heart morphology, Apnea... |
ORPHA:314655 |
| Atelis Syndrome 1 |
|
Dry skin, Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arthrogryposis multiplex congenita, Abnormal pattern of respiration, Ulnar deviation of the hand ... |
ORPHA:562528 |
| Tularemia |
|
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... |
ORPHA:3392 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Small hand, Clinodactyly, Brachydactyly, Pericardial effusion, Short phalanx of finger, Broad finger |
OMIM:614684 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Congenital contracture, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Tal... |
OMIM:616266 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia |
ORPHA:264675 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Hand muscle atrophy, Dyspnea... |
OMIM:211530 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Telangiectasia of the skin, Recurrent respiratory infections, Prematur... |
ORPHA:100 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Intrauterine growth retardation, Overlapping fingers, Excessive wr... |
OMIM:608779 |
| Barber-Say Syndrome |
|
Dermal translucency, Premature skin wrinkling, Dry skin, Redundant skin, Talipes equinovarus, Bra... |
OMIM:209885 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Neonatal death, Talipes equinovarus, Short nec... |
OMIM:108720 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Kyphoscoliosis, Decreased palmar ... |
ORPHA:2980 |
| Three M Syndrome 2 |
|
Short 5th finger, Slender long bone, Clinodactyly, Intrauterine growth retardation, Lumbar hyperl... |
OMIM:612921 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia |
ORPHA:596 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency, Bruising susceptibility, Poor wound healing, Atrial septal defect |
OMIM:619115 |
| Cardiomyopathy, Dilated, 2J |
|
Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
| Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Pneumonia, Subcutaneous hemorrhage |
ORPHA:238459 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Left ventricular... |
OMIM:615355 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... |
OMIM:615067 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Scoliosis, Limitation of joint mobility, Finger syndactyly, Cranial hyperostos... |
ORPHA:2658 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Limitation of joint mobility, Tracheo... |
ORPHA:93260 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Intrauterine growth retardation, Apnea, Petechiae, Neonatal death, Cardiome... |
OMIM:608013 |
| 22Q11.2 Deletion Syndrome |
|
Atelectasis, Abnormal lung lobation, Multiple suture craniosynostosis, Tetralogy of Fallot, Intra... |
ORPHA:567 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca... |
OMIM:119600 |
| Congenital Myopathy 22B, Severe Fetal |
|
Spinal rigidity, Tapered toe, Shoulder flexion contracture, Slender long bone, Respiratory distre... |
OMIM:620369 |
| Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Joint hypermobility, Kyphoscoliosis, Talipes equinovarus, Bip... |
OMIM:608545 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Prematurely aged appearance, Abnormal sacroiliac joint morphology, Redundant skin |
ORPHA:1807 |
| Pseudoxanthoma Elasticum |
|
Restrictive cardiomyopathy, Bruising susceptibility, Striae distensae, Excessive wrinkled skin, L... |
ORPHA:758 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
| Thanatophoric Dysplasia Type 2 |
|
Redundant skin, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly |
ORPHA:93274 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:401935 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Pulmonary fibrosis, Osteolysis, Fus... |
OMIM:612852 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Atrial septal defect, Umbilical hernia |
ORPHA:352490 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Abnormal epiphysis morphology, Skin ulcer, Atelectasis, Osteomalacia, Kyphosis, Jo... |
ORPHA:534 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Atelectasis, Death in childhood, Cardiomegaly, Tachypnea, Recurrent resp... |
OMIM:618278 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Slender finger, Jaundice |
OMIM:250940 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... |
OMIM:606895 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short distal phalanx of finger, Osteopenia, Progeroid facial appearance, Multiple joint contractu... |
ORPHA:2959 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Respiratory distress, Joint hypermobility, Postaxial polydactyly, Atrial septal defec... |
OMIM:300968 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema |
ORPHA:100057 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pulmonary artery atresia, Tracheomalacia, Atelectasis, Patent foramen ovale, Cardiomegaly, Talipe... |
OMIM:620371 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Small hand, Sandal gap, Prominent fingertip pads, Respiratory distress, Intrauterine growth retar... |
OMIM:612863 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Respiratory distress, Cardiomegaly, Talipes equinovarus, Pneumothorax, Short femur, ... |
OMIM:620306 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Tetralogy of Fallot, Muscular ventricular septal defect, Dry skin, Patent foramen ovale, Ventricu... |
OMIM:210710 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bro... |
OMIM:606763 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Respiratory distress, Hypoventilation, Talipes equinovarus, Limited wrist e... |
ORPHA:98915 |
| Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Hypertrophic cardiomyopathy, Dry skin, Abnormal heart valve morphology,... |
ORPHA:1340 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea, Acute infectious pneumonia |
ORPHA:140896 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Limitation of joint mobility, Progeroid facial appearance, Lack o... |
ORPHA:90153 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Prominent veins on trunk, Intrauterine growth retardation, Redundant ... |
ORPHA:357074 |
| Congenital Laryngeal Web |
|
Respiratory distress, Abnormal cardiac septum morphology |
ORPHA:2374 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... |
OMIM:614299 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
OMIM:249270 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Dry skin, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone ossification, Genu v... |
ORPHA:99646 |
| Ablepharon-Macrostomia Syndrome |
|
Toe syndactyly, Premature skin wrinkling, Dry skin, Cutaneous finger syndactyly, Redundant skin, ... |
OMIM:200110 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Slender finger, Small hand, Broad thumb, Osteopenia, Broad hallux, Abnormal hip bone morphology, ... |
ORPHA:251028 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Slender long bone, Prematurely aged appearance, Tibial bowing, Fl... |
OMIM:601812 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... |
OMIM:610910 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect |
OMIM:300887 |
| Mogs-Cdg |
|
Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Thoracic scoliosis, Pulmonary ... |
ORPHA:79330 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Slender ulna, Tracheomalacia, Cardiomyopathy, Avascular necrosis o... |
OMIM:212720 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Ca... |
OMIM:212140 |
| Zygomycosis |
|
Atelectasis, Osteolysis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneu... |
ORPHA:73263 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... |
OMIM:612561 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Humeroradia... |
OMIM:251230 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Scoliosis, Calcaneovalgus deformity, Hyporeflexia of upper limbs |
ORPHA:93952 |
| Short Syndrome |
|
Excessive wrinkled skin, Brachydactyly, Short palm, Joint hypermobility |
ORPHA:3163 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metaca... |
OMIM:601356 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Progeroid facial appearance, Decreased adipose tissue around neck, Death in early adulthood, Shor... |
OMIM:608612 |
| Alfadhel Syndrome |
|
Talipes equinovarus, Nasal flaring, Joint hypermobility |
OMIM:620655 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Contractures of the large joints, Respiratory distress, Recurrent respiratory infecti... |
ORPHA:329178 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... |
ORPHA:1120 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Myofiber disarray, Death in infancy, Irregular... |
OMIM:604377 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:613751 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Tracheomalacia, Respiratory distress, Situs inversus totalis, Pulm... |
OMIM:202650 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress, Proximal muscle weakness in upper limbs, Upper limb amyotrophy |
OMIM:620375 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale |
OMIM:619149 |
| Frank-Ter Haar Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes equinovarus, ... |
OMIM:249420 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Bronchitis, Clinodactyly, Respiratory distress, Tetralogy of Fallo... |
ORPHA:1199 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| White Forelock With Malformations |
|
Spina bifida occulta, Atrial septal defect |
ORPHA:2475 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Joint contracture of the hand, Chylothorax, Respiratory distress, Death in childhood, Death in in... |
OMIM:620278 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Ventricular septal ... |
ORPHA:96334 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Short distal phalanx of finger, Progeroid facial appearance, Acroo... |
ORPHA:90154 |
| Microlissencephaly-Micromelia Syndrome |
|
Micromelia, Respiratory distress, Bilateral single transverse palmar creases, Short neck, Adducte... |
ORPHA:50810 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalange... |
OMIM:101800 |
| Congenital Rubella Syndrome |
|
Jaundice, Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
| Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Neuropathic spinal arthropathy, Cyanosis, Episodic respiratory distre... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Neuropathic spinal arthropathy, Cyanosis, Episodic respiratory distre... |
ORPHA:98914 |
| Cockayne Syndrome |
|
Congenital contracture, Abnormal epiphysis morphology, Contractures of the large joints, Prematur... |
ORPHA:191 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia |
ORPHA:2248 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
| Feingold Syndrome Type 1 |
|
Abnormal heart morphology, Multiple muscular ventricular septal defects, Tricuspid stenosis, Tric... |
ORPHA:391641 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Bruising susceptibility, Progeroid facial appearance, Intrauterine growth retardation, Reduced su... |
OMIM:616914 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress |
ORPHA:254864 |
| Recon Progeroid Syndrome |
|
Progeroid facial appearance, Dry skin, Long thumb, Cutaneous photosensitivity, Joint hypermobilit... |
OMIM:620370 |
| Werner Syndrome |
|
Subcutaneous calcification, Progeroid facial appearance, Low back pain, Osteoporosis, Prematurely... |
OMIM:277700 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Ventricular septal defect, Atrial septal defect, Posta... |
ORPHA:2519 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... |
OMIM:157800 |
| Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Wiedemann-Steiner Syndrome |
|
Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j... |
OMIM:605130 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Atri... |
OMIM:600373 |
| Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Brachydac... |
ORPHA:79329 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Congenital Heart Block |
|
Endocardial fibroelastosis, Pallor, Cyanosis, Patent foramen ovale, Pericardial effusion |
ORPHA:60041 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Redundant skin, Atrial septal defect |
ORPHA:2655 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Patent foramen ovale... |
ORPHA:26793 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypoplastic left heart, Erythema, Mitral atresia, Muscular ventricular septal defect, Dry skin, R... |
OMIM:619503 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Tetral... |
ORPHA:51636 |
| Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Preaxial hand polydactyly, Respiratory distress, Ventricular septal defect, Atria... |
OMIM:610536 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... |
OMIM:612474 |
| Wrinkly Skin Syndrome |
|
Atrial septal dilatation, Congenital hip dislocation, Osteopenia, Prominent veins on trunk, Multi... |
ORPHA:2834 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Generalized abnormality of skin, Respiratory distress, Abnormal cardiomyo... |
ORPHA:367 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Opsismodysplasia |
|
Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Recurrent respiratory infect... |
OMIM:258480 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Clinodactyly, Respiratory distress, Abnormal heart morphology, Overlapping toe, Clino... |
ORPHA:177907 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Respiratory distress, Osteomyelitis, Respiratory tract infection, Ecchymosis, Myocardi... |
ORPHA:36234 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:2140 |
| Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, A... |
ORPHA:1335 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Angioedema, Swelling of proximal interphalangeal joints, Respiratory dist... |
ORPHA:3260 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal heart morphology, Hydrocephalus, Atrial septal defect, Umbilical hernia |
OMIM:175700 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Fractured rib, Metaphyseal spurs, Respiratory distress, Femoral bowing, Subperiosteal... |
OMIM:618188 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all... |
ORPHA:77258 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial ... |
ORPHA:329224 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
| Gapo Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Joint hypermobilit... |
ORPHA:2067 |
| Scleromyxedema |
|
Abnormal forearm morphology, Abnormal pulmonary artery morphology, Generalized abnormality of ski... |
ORPHA:167635 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
| Acitretin/Etretinate Embryopathy |
|
Abnormality of the calcaneus, Atrioventricular canal defect, Conotruncal defect, Aplasia/hypoplas... |
ORPHA:40366 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Short neck, Broad phalanx, Short metacarpal... |
OMIM:271665 |
| Chand Syndrome |
|
Short fifth metatarsal, Dry skin, Atelectasis |
ORPHA:1401 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Poor wound healing, Short toe, Bruising susceptibility, Spontaneous neonatal pneumoth... |
OMIM:225410 |
| Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:615668 |
| Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... |
OMIM:617660 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:7 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Neoplasm of the lung |
ORPHA:142 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia |
OMIM:231680 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis |
ORPHA:464453 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Umbilical hernia |
OMIM:618205 |
| Meacham Syndrome |
|
