Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Deat... |
OMIM:184260 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... |
OMIM:610978 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Transaldolase Deficiency |
|
Atrial septal defect, Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia |
ORPHA:101028 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atelectasis, Abnormal finger morphology... |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... |
ORPHA:141152 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Large hands, Progeroid facial appearance |
OMIM:221790 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... |
ORPHA:2902 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Short neck, Knee flexion contracture, Femoral bowing, Tib... |
OMIM:601559 |
Bronchogenic Cyst |
|
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal peric... |
ORPHA:2357 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... |
OMIM:132400 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Excessive s... |
ORPHA:498359 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Prominent superficial veins, Bicuspid aortic valv... |
ORPHA:363705 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Anterior atl... |
ORPHA:536467 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ... |
OMIM:151210 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Small hand, Skin ulcer, Short foot, Join... |
ORPHA:2500 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... |
OMIM:177170 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Dermal translucency, Os odontoideum, Hip dislocation, Cutis laxa, Talip... |
OMIM:616603 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... |
ORPHA:244 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... |
ORPHA:166272 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... |
ORPHA:1209 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Joint stiffness, Hypoplastic i... |
ORPHA:1860 |
Cog7-Cdg |
|
Short neck, Long fingers, Jaundice, Abnormal finger morphology, Abnormal heart morphology, Excess... |
ORPHA:79333 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... |
ORPHA:1143 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ... |
OMIM:620321 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi... |
ORPHA:254361 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Cutis marmorata |
OMIM:615297 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Progeroid facial appearance, Slender long bones with narrow ... |
ORPHA:50811 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Neonatal respiratory distress, Rocker bottom foot, Kyphoscoliosis, Short neck, ... |
OMIM:618947 |
Acromesomelic Dysplasia 2A |
|
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... |
OMIM:619611 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... |
ORPHA:79127 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling, Split foot |
OMIM:601349 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... |
OMIM:615222 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Polydactyly, Bronchiolitis |
OMIM:615993 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death, Joint hypermobility |
OMIM:300219 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metap... |
ORPHA:1423 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Excessive wrinkled skin, Ab... |
ORPHA:3051 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Cutis laxa, Talipes equinovarus, Camptodactyly, Intrauter... |
ORPHA:79325 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... |
OMIM:212093 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed... |
OMIM:156550 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Prematurely aged appearance, Recurrent fractures, Redundant skin, Os... |
ORPHA:2078 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Decreased hip abduction, Congenital hip dislocation, Single transverse palmar cr... |
OMIM:108120 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Prominent superficial veins, Thoracic scoliosis, Prematurely aged appe... |
OMIM:618000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Dyspnea, Hemiv... |
ORPHA:2759 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Short neck, Atelectasis, Sho... |
OMIM:269860 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodi... |
ORPHA:66637 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short... |
OMIM:183900 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... |
ORPHA:1302 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Redundan... |
OMIM:613177 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m... |
OMIM:617102 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Scoliosis |
OMIM:300934 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Prominent superficial veins, Camptodactyly of finger,... |
OMIM:612350 |
Interstitial Lung Disease 2 |
|
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... |
OMIM:178500 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Clinodactyly, Split hand, Abnormal p... |
OMIM:157900 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Farber Disease |
|
Respiratory distress, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelectasis, Sh... |
ORPHA:333 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Prominent superficial veins, Slender long bone, Premature skin ... |
OMIM:269880 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Dermal translucency, Redundant neck skin, Prematurely aged appearance, ... |
ORPHA:90348 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... |
ORPHA:77260 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Respiratory distress... |
OMIM:613848 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Clubbing, Bronchiecta... |
ORPHA:60033 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Progeroid facial appearance, Genu valgum, Slender long bones with narrow diaphyses, D... |
OMIM:608154 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Cardiomyopathy, Scoliosis, ... |
ORPHA:86812 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Prematurely aged appearance, Kyphosis, Reduced bone mineral density, Premature graying of hair, V... |
ORPHA:2617 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Cog5-Cdg |
|
Camptodactyly of finger, Short neck, Genu valgum, Finger clinodactyly, Intrauterine growth retard... |
ORPHA:263487 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Perimembranous ventricular septal defec... |
ORPHA:363444 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Recurrent respiratory infections, Sandal gap, Single t... |
OMIM:601358 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects |
OMIM:620070 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Coxa valga, Av... |
ORPHA:1901 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Redundant skin, Atrial septal defect, Neonatal death, Recurrent aspiration... |
OMIM:612289 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Re... |
OMIM:612940 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... |
ORPHA:93932 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Premature skin wrinkling |
ORPHA:1942 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... |
ORPHA:137914 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Prolonged ne... |
OMIM:117550 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Redundant skin, Kyphosis, ... |
OMIM:616482 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... |
ORPHA:2414 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Multiple joint contractures, Broad hallux, Single transverse palmar cr... |
OMIM:305450 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Intrauterine growth retardation, Broad phalanx, Short phalanx of finger, Broad ... |
OMIM:618724 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Crackles, Dyspnea, Premature graying of hair, Clubbing of fingers, Reticular pattern ... |
OMIM:614742 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar... |
OMIM:618150 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Abnormality of the han... |
ORPHA:1387 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... |
OMIM:615042 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa |
OMIM:618499 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Metatarsus adductus, C... |
OMIM:601680 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, H... |
OMIM:617895 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In... |
OMIM:616733 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Premature osteoarthritis, Flexion... |
OMIM:215150 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Intrauterine growth retardation |
ORPHA:26792 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Chitayat Syndrome |
|
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary interst... |
OMIM:617180 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Short ... |
ORPHA:2756 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:365 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... |
OMIM:610910 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Dermal translucency, Congenital hip dislocation, ... |
ORPHA:2962 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Spina bifida occulta |
OMIM:619227 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... |
OMIM:244400 |
Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung ... |
OMIM:215140 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... |
OMIM:613561 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Progeroid facial appearance, Kyphoscoliosis, Palmoplantar c... |
ORPHA:75496 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor... |
ORPHA:1427 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Abnormal heart valve morphology, Sandal gap, Recurrent shoulder dislocation, Poor ... |
ORPHA:230851 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Atelectasis, Flexion contracture, Respiratory insufficiency, Card... |
ORPHA:258 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, ... |
ORPHA:3342 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... |
ORPHA:2596 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, ... |
ORPHA:89844 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Delay... |
OMIM:114290 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Arthrogryposis, Distal, Type 3 |
|
Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p... |
OMIM:114300 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Dyspnea, Flexion contracture, Recurrent pneumonia, Upper airway obst... |
ORPHA:435628 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti... |
ORPHA:56304 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... |
ORPHA:544503 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Redundant skin, Cardiomegaly, Secundum ... |
OMIM:300855 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... |
OMIM:608799 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in... |
OMIM:187601 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Int... |
ORPHA:2963 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Short phalanx of finger, Genu ... |
OMIM:615777 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Short neck, Dyspnea, Hypoplasia of the radius, Abnormality of t... |
ORPHA:3015 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Re... |
OMIM:211530 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Neonatal respiratory distress, Short neck, Metatarsus adductus, Calcaneovalgus d... |
OMIM:616266 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, Generalized ab... |
ORPHA:740 |
Congenital Vertical Talus |
|
Achilles tendon contracture, Distal arthrogryposis, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... |
OMIM:166250 |
Alg12-Cdg |
|
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Redundant skin |
ORPHA:79324 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulm... |
OMIM:612387 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... |
ORPHA:226313 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Myocarditis, Nonproductive cough, Atelectasis, Rhinit... |
ORPHA:319213 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Prominent superficial veins, Flexion contracture, Osteoporosis, Elbow flexion contrac... |
OMIM:614438 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Proximal pl... |
OMIM:217980 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Three M Syndrome 3 |
|
Short neck, Hyperlordosis, Increased vertebral height, Slender long bone, Hip dysplasia, Clinodac... |
OMIM:614205 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor |
ORPHA:49827 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor w... |
OMIM:225400 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax... |
ORPHA:199241 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... |
OMIM:618652 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Flexion contracture, Flat glenoid fossa, Hemivertebrae, Cutaneous finger sy... |
OMIM:224690 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Dyspnea, Diffuse alveolar hemorrhage, ... |
ORPHA:99931 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Myocarditis, Dyspnea, Limitation of joint mobility... |
ORPHA:728 |
Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... |
ORPHA:185 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Laron Syndrome |
|
Prematurely aged appearance, Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly |
ORPHA:633 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Premature graying of hair, Premat... |
ORPHA:363618 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Overlapping toe, Cya... |
ORPHA:3309 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Recurrent fractures, Upper limb asymmetry, Reduced bone mineral density |
ORPHA:137608 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Short neck, Secundum atrial septal defect, Neonatal asphyxia, Jaundice, Respira... |
OMIM:608779 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies,... |
OMIM:260400 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Atrial septal defect, Spina bifida occulta, Hypoplastic cerv... |
OMIM:150250 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles, Intrauterine growth re... |
OMIM:619793 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... |
ORPHA:1318 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Platys... |
OMIM:300863 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:619189 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Genu varum, Long toe, Prematurely... |
OMIM:264090 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Redundant skin, Cutis laxa, Excessive wrinkled skin, Scoliosis, Intra... |
OMIM:219200 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Sco... |
OMIM:619383 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Chylopericardium, Pulmonary... |
ORPHA:538 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flexion, Hyperlordos... |
OMIM:615065 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Progeroid facial appearance, Increased susceptibility to fractures, E... |
ORPHA:357058 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Prominent veins on trunk, Shou... |
ORPHA:536532 |
Werner Syndrome |
|
Increased bone mineral density, Miscarriage, Rocker bottom foot, Prematurely aged appearance, Joi... |
ORPHA:902 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... |
OMIM:601612 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Generalized joint laxity, Abnorm... |
ORPHA:357074 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w... |
ORPHA:98915 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radiu... |
OMIM:607143 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... |
OMIM:618278 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short neck, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Respir... |
ORPHA:562528 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Congenital hip dislocation, Redundant skin, Progeroid facial appear... |
OMIM:278250 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Congenital malformation of the left heart, Hypoplastic vertebral bodies, Long toe, 2-... |
ORPHA:3455 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Dry skin |
ORPHA:1035 |
Episodic Ataxia Type 1 |
|
Hand clenching, Kyphoscoliosis, Respiratory distress, Scoliosis |
ORPHA:37612 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid facial appearance, Prema... |
OMIM:123700 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Spina bif... |
ORPHA:500 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Limited elbow movement, Joint stiffness, Pr... |
OMIM:614008 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... |
OMIM:614613 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Seckel Syndrome |
|
Sandal gap, Prematurely aged appearance, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflex... |
ORPHA:808 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal lung lobation, Atrial septal defect, Arachnodactyly, Atelectasis, Chronic pu... |
ORPHA:567 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth... |
ORPHA:439822 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short neck, Recurrent bronchopulmonary in... |
OMIM:617303 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Atelis Syndrome 1 |
|
Atrial septal defect, Dry skin, Ventricular septal defect |
OMIM:620184 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Calcaneovalgus deformity, Bruising susceptibility, Mitral valve prolapse |
OMIM:225320 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hand poly... |
OMIM:314390 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, ... |
OMIM:119600 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Barber-Say Syndrome |
|
Brachydactyly, Redundant skin, Talipes equinovarus, Clinodactyly of the 5th finger, Premature ski... |
OMIM:209885 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Recurrent fractures, Osteomalacia, Joint stif... |
ORPHA:534 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol... |
ORPHA:314655 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Telangiectasia of the skin, Prematurely aged appearance, Premat... |
ORPHA:100 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect, Hype... |
OMIM:615355 |
Zygomycosis |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Atelectasis, Pneumothorax, Osteolysis, Endocardi... |
ORPHA:73263 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619115 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough |
ORPHA:142 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2658 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metacarp... |
OMIM:108720 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Redundant skin, Hydrocephalus, Holoprosencephaly, Atrial septal defect |
ORPHA:93274 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Slender long bone, Short 5th f... |
OMIM:612921 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Purpura, Apnea, Cardiomegaly, Pulmonary hypoplasia, Neonatal death, Arthrog... |
OMIM:608013 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bron... |
ORPHA:1199 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Abnormal heart morphology |
ORPHA:352490 |
Larsen-Like Syndrome |
|
Joint laxity, Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodacty... |
OMIM:608545 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Prematurely aged appearance, Redundant skin |
ORPHA:1807 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Telangiectasia of the skin, Lack of skin elasticity, Mitral valv... |
ORPHA:758 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Prematurely aged appearance, Lack of... |
ORPHA:2959 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Dry skin, Stillbirt... |
OMIM:210710 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Recurrent respiratory infections, Neuropathic spinal arthropathy, Congenital hip di... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Recurrent respiratory infections, Neuropathic spinal arthropathy, Congenital hip di... |
ORPHA:98914 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contractu... |
OMIM:620369 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Recurrent respiratory infections, Sacral dimple, Postaxial po... |
OMIM:300968 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Prominent fingertip pads, Sandal gap, Dysplastic tricuspid valve, Small han... |
OMIM:612863 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myofiber disarray, Hypertrophic cardiomyopathy, Inspirato... |
OMIM:604377 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Abnormal morphology of ulna, Redundant skin, Short neck, Genu va... |
ORPHA:1340 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Flexion contracture, Limitation of join... |
ORPHA:90153 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:249270 |
Martsolf Syndrome 1 |
|
Joint laxity, Recurrent respiratory infections, Short metacarpal, Thoracic scoliosis, Lumbar hype... |
OMIM:212720 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Redundant skin, Cutaneous finger syndactyly, Talipes equinovaru... |
OMIM:200110 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hyp... |
OMIM:620306 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... |
ORPHA:99646 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Single transverse palmar crease, Short neck, Flexion contracture, Hemiverteb... |
ORPHA:96334 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Short neck, Slender fi... |
ORPHA:251028 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... |
OMIM:620278 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... |
ORPHA:747 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Prominent superficial veins, Prematurely aged appearance, Recurrent fractures, Ost... |
OMIM:601812 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... |
ORPHA:508533 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... |
OMIM:212140 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphoscoliosis, Gener... |
ORPHA:2834 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odo... |
OMIM:258480 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Atrial septal def... |
ORPHA:79330 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... |
ORPHA:1120 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Ventricular septal defect, Postaxial hand polydactyly,... |
ORPHA:2519 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Calcaneovalgus deformity, Hyporeflexia of upper limbs, Scoliosis |
ORPHA:93952 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hypoplasia of the ulna, Recurrent respiratory infections, Jaundice, Early ossif... |
OMIM:208500 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... |
OMIM:608612 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prematurely aged appearance, Abnormal fingertip morphology, Progeroid facial appearance, Osteolys... |
ORPHA:90154 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... |
OMIM:601356 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Short Syndrome |
|
Excessive wrinkled skin, Joint hyperflexibility, Brachydactyly, Short palm |
ORPHA:3163 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, F... |
OMIM:251230 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Recurrent respiratory infections, Respiratory distress, Contractures of the large joi... |
ORPHA:329178 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Flexion contracture, Respiratory insufficiency, Abn... |
ORPHA:367 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Secundum atrial septal... |
OMIM:249420 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Bilateral single transverse palmar creases, Micromelia, Short neck, Adducte... |
ORPHA:50810 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Jaundice, Ventricular septal defect |
ORPHA:290 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata... |
ORPHA:3260 |
Feingold Syndrome Type 1 |
|
Abnormal heart morphology, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular s... |
ORPHA:391641 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... |
OMIM:202650 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... |
OMIM:616914 |
Werner Syndrome |
|
Low back pain, Prematurely aged appearance, Progeroid facial appearance, Osteoporosis, Reduced bo... |
OMIM:277700 |
Recon Progeroid Syndrome |
|
Joint laxity, Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Livedo re... |
OMIM:620370 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:274000 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... |
OMIM:157800 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Sacral dimple, Tapered finger, Contracture of the distal interphalangeal joint of t... |
OMIM:605130 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t... |
OMIM:271665 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, Contractures of the large joints, Congenital contr... |
ORPHA:191 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Redundant skin |
ORPHA:2655 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Pallor, Endocardial fibroelastosis, Patent foramen ovale |
ORPHA:60041 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... |
ORPHA:1329 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... |
OMIM:612474 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart |
OMIM:618142 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... |
ORPHA:210122 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Mitral atresia, Muscular ventricu... |
OMIM:619503 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Respiratory tract infection, Myocardit... |
ORPHA:36234 |
Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ventricular septal defect, Episodic tachypnea, Pneumonia, Pericardial effus... |
ORPHA:26793 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... |
OMIM:610536 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Ventricular septal defect, Kyphosis, Abnormal heart morphology,... |
ORPHA:79329 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Lumbar hyperlordosis, Joint stiffness, Sh... |
ORPHA:505248 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... |
ORPHA:1335 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short neck, Small hand, ... |
ORPHA:177907 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abnormal tricuspid va... |
ORPHA:7 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... |
OMIM:618316 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bo... |
OMIM:618188 |
Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Prematurely aged appearance... |
ORPHA:870 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy |
ORPHA:79312 |
Gapo Syndrome |
|
Prematurely aged appearance, Abnormal form of the vertebral bodies, Joint hyperflexibility, Abnor... |
ORPHA:2067 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Umbilical hernia, Patent ... |
ORPHA:329224 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... |
OMIM:617660 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:613870 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:615668 |
Chand Syndrome |
|
Atelectasis, Short fifth metatarsal, Dry skin |
ORPHA:1401 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Jaundice, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Telangiectasia, Atrial septal defect, Umbilical hernia,... |
OMIM:612582 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis |
OMIM:276822 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Redundant neck skin |
ORPHA:1842 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Redundant skin, Short toe, Limb unde... |
OMIM:225410 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricl... |
ORPHA:3304 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly |
ORPHA:2707 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Scleromyxedema |
|
Aged leonine appearance, Abnormality of the hand, Abnormal lung morphology, Abnormal pulmonary ar... |
ORPHA:167635 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
OMIM:618494 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Dry skin, Pulmonic stenosis |
OMIM:611553 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect |
OMIM:603387 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect |
OMIM:615502 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Cough, Osteolysis, Pulmonary infilt... |
ORPHA:228123 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:254913 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept... |
ORPHA:392 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Progeroid facial appearance, Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... |
ORPHA:555874 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Silver-Russell Syndrome |
|
Sandal gap, Upper limb asymmetry, Abnormal appendicular skeleton morphology, Scoliosis, Abnormali... |
ORPHA:813 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Umbilical hernia, Pa... |
ORPHA:500159 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Hydrocephalus, Dry skin, Ventricular septal defect |
OMIM:614576 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Premature graying of h... |
ORPHA:79474 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Joint laxity, Arachnodactyly, Progeroid facial appearance, Pulmonary art... |
OMIM:208050 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Calcaneovalgus deformity, Recurrent upper re... |
OMIM:612513 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... |
ORPHA:2847 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Spontaneous pneumothor... |
OMIM:606721 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pe... |
ORPHA:781 |
Marfan Syndrome |
|
Bicuspid aortic valve, Equinus calcaneus, Flexion contracture, Emphysema, Arachnodactyly, Scolios... |
OMIM:154700 |
3-Methylglutaconic Aciduria, Type V |
|
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:610198 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Subvalvular aortic stenosis, Short phalanx ... |
OMIM:600430 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor |
OMIM:609053 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr... |
ORPHA:508488 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Dry skin, Pulmonic stenosis |
OMIM:618282 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Poor wound healing, Mitral valve prolapse |
OMIM:615539 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Sho... |
OMIM:256520 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Hypop... |
ORPHA:3404 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Dilated cardiomyopathy, Abnormal left ventricle morphology, Small hand,... |
OMIM:300845 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calc... |
ORPHA:522077 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... |
OMIM:261740 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Prematurely aged appearance, Abnormal... |
ORPHA:909 |
Transaldolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Telangiectasia |
OMIM:606003 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:619769 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Brachioradialis areflexia, Flexion contracture, Recurrent pneum... |
OMIM:616271 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Jaundice, Atrial septal defect, Patent foramen ovale, Right ventricula... |
OMIM:208085 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, S... |
OMIM:170390 |
Adnp Syndrome |
|
Joint laxity, Respiratory distress, Broad hallux, Single transverse palmar crease, Sandal gap, Ab... |
ORPHA:404448 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Subc... |
OMIM:613001 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale |
ORPHA:88630 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Single transverse palmar crease, Flexion contracture, Hypoplastic iliac win... |
OMIM:180849 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Alazami Syndrome |
|
Atrial septal defect, Cutis marmorata |
ORPHA:319671 |
Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Intrauterine growth retardation, Excessive wrinkled skin |
ORPHA:3322 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... |
ORPHA:2554 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Intrauterine growth retardation, Scoliosis, Congenital foot contractures |
ORPHA:565624 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Apical muscular ventricular septal defect |
OMIM:301022 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Sacral dimple, Prematurely... |
OMIM:619950 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Redundant neck skin, Overlapping toe, Craniosynostosis, Palmoplantar cutis ... |
OMIM:123790 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... |
ORPHA:1880 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Hy... |
OMIM:133540 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale |
OMIM:616867 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Tetanus |
|
Respiratory distress, Stiff neck, Tachypnea |
ORPHA:3299 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Neonatal asphyxia, Dyspnea, Wheezing, ... |
ORPHA:141127 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, ... |
OMIM:617300 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr... |
ORPHA:31204 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Reduced subcutaneous adipo... |
OMIM:270450 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis, Atrial septal de... |
OMIM:609029 |
Prune Belly Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal def... |
OMIM:617478 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort... |
ORPHA:2299 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:610733 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve |
OMIM:615009 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Cockayne Syndrome Type 2 |
|
Progeroid facial appearance, Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retard... |
ORPHA:90322 |
Emanuel Syndrome |
|
Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic steno... |
ORPHA:96170 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... |
OMIM:619343 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Brachydactyly, Neonatal respiratory distr... |
OMIM:616268 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618870 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Redundant neck skin, Ventricular septal defect |
OMIM:617360 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Ventricular septal defect, Hypoplastic right heart, Short neck, Kyphos... |
OMIM:616894 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly,... |
OMIM:619269 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Apnea, Flexio... |
ORPHA:17 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion |
ORPHA:292 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Ski... |
ORPHA:537 |
Noonan Syndrome 10 |
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Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Palmoplanta... |
OMIM:616564 |
Cryptococcosis |
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Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Osteo... |
ORPHA:1546 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Kyphoscolios... |
ORPHA:798 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
Noonan Syndrome 13 |
|
Atrial septal defect, Dry skin, Bruising susceptibility, Mitral valve prolapse |
OMIM:619087 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Hydrocephalus |
OMIM:614846 |
Primary Dystonia, Dyt4 Type |
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Respiratory distress, Kyphoscoliosis |
ORPHA:98805 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... |
OMIM:619657 |
Microphthalmia, Syndromic 9 |
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Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Pulmonic stenosis, Atrial sep... |
OMIM:601186 |
Xfe Progeroid Syndrome |
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Prematurely aged appearance, Dry skin, Death in adolescence, Scoliosis, Cutaneous photosensitivity |
OMIM:610965 |
Mitochondrial Trifunctional Protein Deficiency |
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Equinus calcaneus, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Left ventricul... |
ORPHA:746 |
Trichothiodystrophy 5, Nonphotosensitive |
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Intrauterine growth retardation, Cutaneous photosensitivity, Cutis marmorata, Progeroid facial ap... |
OMIM:300953 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Alagille Syndrome 2 |
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Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
Japanese Encephalitis |
|
Respiratory distress, Stiff neck, Pulmonary edema, Elbow flexion contracture, Distal upper limb m... |
ORPHA:79139 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Knee flexion contracture, Talipes equinovarus, Aspiration, Wrist flexion co... |
OMIM:618733 |
Alg3-Cdg |
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Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Holocarboxylase Synthetase Deficiency |
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Respiratory distress, Tachypnea |
ORPHA:79242 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Arachnodactyly, Progeroid facial appearance, Adducted thumb |
ORPHA:412057 |
Digeorge Syndrome |
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Pilonidal sinus, Ventricular septal defect, Atelectasis, Asthma, Chronic pulmonary obstruction, R... |
OMIM:188400 |
Listeriosis |
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Respiratory distress, Back pain, Pericarditis, Osteomyelitis, Stiff neck, Miscarriage, Pneumonia,... |
ORPHA:533 |
Sepsis In Premature Infants |
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Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ... |
ORPHA:90051 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Osteopenia, Respiratory distress, Congenital hip dislocation, Atrial septal defect, Joint laxity,... |
ORPHA:480880 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Classical Ehlers-Danlos Syndrome |
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Osteopenia, Striae distensae, Prematurely aged appearance, Phalangeal dislocation, Poor wound hea... |
ORPHA:287 |
Noonan Syndrome 2 |
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Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Prematurely aged appearance, Hydrocephalus, Dry skin, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Spina bifida occulta, Transposition of the great arteries, Pulmonic st... |
OMIM:201000 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Mitral valve calcification, Sandal gap, Progeroid facial appearance, Joint stiffness,... |
OMIM:619127 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Nivelon-Nivelon-Mabille Syndrome |
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Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Dilated cardiomyopathy, ... |
ORPHA:79404 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Trisomy 13 |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3378 |
Alagille Syndrome |
|
Atrial septal defect, Telangiectasia of the skin, Spina bifida occulta, Ventricular septal defect |
ORPHA:52 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contractu... |
ORPHA:83617 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Hydrocephalus |
OMIM:614886 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Prematurely aged appearance, Progeroid faci... |
OMIM:216400 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology |
ORPHA:90308 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy |
OMIM:251000 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Atrial septal defect, Aortic valve stenosis, Hydrocephalus |
ORPHA:459061 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Ectodermal dysplasia, Promi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Ectodermal dysplasia, Promi... |
ORPHA:363958 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
Pachyonychia Congenita |
|
Respiratory distress, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar hyperkeratosis... |
ORPHA:2309 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar cutis gyrata, Palmoplantar keratoderma, Respiratory distress, Craniosynostosis |
ORPHA:1555 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Cat Eye Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... |
OMIM:115470 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Right ventri... |
OMIM:616028 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617061 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... |
ORPHA:371428 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect |
OMIM:614857 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Endocardi... |
ORPHA:99776 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due... |
OMIM:256810 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Proximal upper limb muscle hype... |
ORPHA:280365 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Atrial septal defect, Umbilical hernia... |
OMIM:601808 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... |
OMIM:617088 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Abnormal form of the vertebral b... |
ORPHA:904 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Hydrocephalus, Communicating hydrocephalus, Right atrial enlargement |
OMIM:615219 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Single transverse palmar crease, Osteopor... |
OMIM:615273 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Jaundice, Patent foramen ovale, Petechiae |
OMIM:251290 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness |
ORPHA:206436 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Doors Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostos... |
ORPHA:79500 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:608149 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:254346 |
Kid Syndrome |
|
Progeroid facial appearance, Equinus calcaneus, Coxa valga, Patellar hypoplasia, Knee flexion con... |
ORPHA:477 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Progeroid facial appearance, Cardio... |
OMIM:256040 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Recurrent respiratory infections, Rhizomelia, Craniosynostosis, Short neck, Phalangea... |
OMIM:266920 |
Stevenson-Carey Syndrome |
|
Atrial septal defect |
OMIM:611961 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Redundant skin, Camptodactyly of finger, Excessive wrinkled skin, Dry skin |
ORPHA:920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... |
ORPHA:221008 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Respiratory distress |
ORPHA:990 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cyanosis, Dextrocardia |
ORPHA:2257 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiomyopathy, Pallor, Aspiration, Flushing |
ORPHA:2131 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology |
ORPHA:1292 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Contractural Arachnodactyly, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:121050 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Hypoplastic lef... |
OMIM:100300 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy... |
ORPHA:340 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth... |
ORPHA:90068 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620327 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Cutis laxa, Atrial sep... |
OMIM:245600 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... |
OMIM:600001 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Redundant skin |
ORPHA:96167 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cutis marmorata |
OMIM:617602 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... |
ORPHA:97214 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Umbilical hernia, Cutis marmorata |
OMIM:619758 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Holoprosencephaly |
ORPHA:261236 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death |
OMIM:620024 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale |
OMIM:616866 |
Distal Triplication 15Q |
|
Atrial septal defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:314588 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Neonatal death |
OMIM:311900 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Atrial septal defe... |
OMIM:235510 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:158170 |
Down Syndrome |
|
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Partial a... |
OMIM:190685 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia |
ORPHA:404443 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Ectodermal dysplasia, Common atrium |
OMIM:225500 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Osteomyelitis, Pneumonia, Urticaria, Inte... |
ORPHA:37042 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cutis laxa |
OMIM:605039 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Abnormal heart morpho... |
ORPHA:79282 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition... |
ORPHA:99050 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Petechiae |
OMIM:617397 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616777 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Joint contrac... |
OMIM:615919 |
Buratti-Harel Syndrome |
|
Atrial septal defect |
OMIM:619314 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Dry skin |
OMIM:610443 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o... |
ORPHA:2008 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio... |
ORPHA:769 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Progeroid facial appearance, Flexion contracture, Recurrent pneu... |
OMIM:614098 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Pulmonic stenosis, Atrial sept... |
OMIM:610759 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Recurrent respiratory infections, Ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Dry skin |
OMIM:614941 |
Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Jaundice |
ORPHA:1667 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno... |
OMIM:270100 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... |
ORPHA:453499 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
ORPHA:2255 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244300 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect |
ORPHA:363528 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Atrial septal defect, Bruising su... |
OMIM:615582 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Situs inversus totalis |
OMIM:267010 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus, Bruising susceptibility |
OMIM:618162 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial sep... |
ORPHA:980 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice, Intrauterine growth retardation |
OMIM:617156 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology |
ORPHA:261311 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300963 |
Distal Deletion 10Q |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:96148 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect |
ORPHA:3380 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:224900 |
Chromosome Xp11.3 Deletion Syndrome |
|
Asthma, Progeroid facial appearance |
OMIM:300578 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300998 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Dry skin |
OMIM:305100 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Cyanosis, Osteomalacia, Cardiomegaly, Pericardial ... |
ORPHA:51608 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent foramen ovale, Neonatal death |
OMIM:620244 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612562 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:614114 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear... |
ORPHA:3384 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus |
OMIM:207410 |
Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral valve prol... |
ORPHA:2556 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Partial anomalous pulmo... |
OMIM:265380 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616364 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema |
ORPHA:31826 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Dry skin |
ORPHA:2637 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale, Dermal ... |
OMIM:617506 |
Syndromic Diarrhea |
|
Ventricular septal defect, Bicuspid aortic valve, Dry skin, Abnormal heart morphology, Atrial sep... |
ORPHA:84064 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Abnormal heart valve morphology, Redundant skin, Prematurely aged app... |
ORPHA:286 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Dry skin |
ORPHA:261323 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis |
OMIM:300867 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect |
ORPHA:397709 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P... |
OMIM:300707 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Facial telangi... |
OMIM:602782 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Cockayne Syndrome Type 1 |
|
Scoliosis, Cutaneous photosensitivity, Foot joint contracture, Progeroid facial appearance |
ORPHA:90321 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect |
OMIM:609625 |
3Mc Syndrome 1 |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Conjunctival telangiectasia |
OMIM:257920 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:607323 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Dextrocardia |
OMIM:277380 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect |
OMIM:613309 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect |
ORPHA:2728 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Histiocytoid ca... |
OMIM:309801 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261279 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect |
ORPHA:436003 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, Pulmonary valve def... |
ORPHA:1600 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
OMIM:115150 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Cardiorespiratory arrest |
ORPHA:31824 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Neonatal death, Situs inversus totalis |
OMIM:208540 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect |
OMIM:614749 |
Mckusick-Kaufman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart |
ORPHA:2473 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
ORPHA:1790 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:251061 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Petechiae, Hypopnea, Purpura |
ORPHA:2330 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger |
ORPHA:521445 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Abnormality of the vertebral spinous processes, Thoracolumbar k... |
ORPHA:1299 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cutis marmorata, Hydrocephalus, Atrial septal defect, Aortic valve ste... |
ORPHA:96121 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Spina bifida occulta, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Large placenta, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1708 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Progeroid facial appearance, Unicameral bone cyst |
ORPHA:79086 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Respiratory distress |
ORPHA:1051 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Redundant skin, Cutis laxa, Atrial ... |
OMIM:617403 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... |
OMIM:619268 |
Plague |
|
Respiratory distress, Abnormality of the elbow, Endocarditis, Skin ulcer, Acute infectious pneumo... |
ORPHA:707 |
Jacobsen Syndrome |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Holoprosencephaly |
OMIM:147791 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect |
ORPHA:261330 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Pulmonic stenosis |
OMIM:257300 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Dilated cardiomyopathy, Episodic respiratory distress, Hypertrophic cardiomyopath... |
ORPHA:255210 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:79345 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Respiratory failure, Gene... |
ORPHA:805 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Umbilical hernia, Pat... |
ORPHA:2745 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Single transverse palmar crease, Nasal flaring, Asthma, Short palm, Brachydactyly |
ORPHA:466943 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect |
OMIM:602482 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:464738 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Jaundice, Ventricular septal defect |
OMIM:614866 |
Alg9-Cdg |
|
Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil... |
ORPHA:79328 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Hydrocephalus, Spina bifida occulta, Ventricular septal defect |
OMIM:300373 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Dry skin, Mitral stenosis, Tetralogy of... |
ORPHA:163956 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect |
OMIM:618005 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... |
ORPHA:1507 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Pallor, Atrial septal defect, Spina bifida occulta |
OMIM:105650 |
Genitopatellar Syndrome |
|
Atrial septal defect |
ORPHA:85201 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:609192 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Cutis marmorata |
OMIM:620072 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Cutis laxa, Biventricular hyper... |
OMIM:617402 |
Chops Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return |
OMIM:616368 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology |
ORPHA:369837 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect |
ORPHA:70 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Umbilical hernia, Dysplastic aort... |
OMIM:602535 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Cutis laxa, Pulmonic stenosis, Atrial sep... |
ORPHA:536471 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Progeroid facial appearance |
OMIM:610651 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... |
ORPHA:97360 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Mitral valve prolapse |
ORPHA:251066 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect |
ORPHA:163979 |
Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aortic valve morphology, Left ventricu... |
ORPHA:576 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Hydropic placenta, Stillbirth, Neonatal death, Scaling skin,... |
OMIM:275210 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Cyanosis |
ORPHA:2886 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... |
ORPHA:352665 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Cutis marmorata, Holoprosencephaly, Atrial septal defect, Atrioventric... |
ORPHA:818 |
Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Subcutaneous lipoma, Abnormal heart morphology |
ORPHA:79076 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis |
OMIM:614609 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect |
OMIM:617063 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect |
OMIM:603467 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo... |
ORPHA:363700 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1465 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect |
OMIM:614080 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect |
ORPHA:398069 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Hydrocephalus, Aqueductal stenosis |
OMIM:619512 |
Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology... |
ORPHA:84 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Mitral valve prolapse, Umbilical hernia, Tricuspid valve prolapse, Atrial septal defect, Ecchymos... |
OMIM:601776 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Dry skin, Scaling skin, Skin ulcer |
ORPHA:2526 |
Vici Syndrome |
|
Atrial septal defect, Cardiomyopathy, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:242840 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Pulmonic st... |
OMIM:218040 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Fragile skin |
OMIM:271640 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Holoprosencephaly, Subvalvular aortic stenosis |
ORPHA:1052 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Cranioectodermal Dysplasia 2 |
|
Cutis laxa, Ectodermal dysplasia, Atrial septal defect, Left ventricular hypertrophy, Patent fora... |
OMIM:613610 |
Hardikar Syndrome |
|
Ventricular septal defect, Jaundice, Partial anomalous pulmonary venous return, Prolonged neonata... |
OMIM:301068 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
ORPHA:280633 |
Oligomeganephronia |
|
Secundum atrial septal defect, Branchial cyst |
ORPHA:2260 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Skin ulcer, ... |
ORPHA:95455 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Patellar aplasia, Knee fl... |
OMIM:606170 |
Diamond-Blackfan Anemia |
|
Atrial septal defect, Ventricular septal defect, Pallor, Abnormal heart morphology |
ORPHA:124 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect |
OMIM:613834 |
Leptospirosis |
|
Respiratory distress, Pericarditis, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |
Immunodeficiency 87 And Autoimmunity |
|
Jaundice, Dilated cardiomyopathy, Biventricular hypertrophy, Atrial septal defect, Atrioventricul... |
OMIM:619573 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
Fryns Syndrome |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:229850 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Scaling skin, Transposition of the great arteries, Short umbilical ... |
ORPHA:1662 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... |
ORPHA:466791 |
Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with... |
OMIM:620305 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Prolonged neonatal jaundice, Atrial septal defect, Patent foramen ovale, Right ve... |
OMIM:620186 |
Gitelman Syndrome |
|
Pericardial effusion, Respiratory distress, Gout |
ORPHA:358 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect |
OMIM:618891 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Prominent superficial veins, Cor triatriatum, Pulmonic stenosis |
OMIM:612541 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... |
OMIM:619534 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Semil... |
OMIM:301044 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:163950 |
Degcags Syndrome |
|
Ventricular septal defect, Premature graying of hair, Pallor, Pulmonic stenosis, Atrial septal de... |
OMIM:619488 |
Lymphatic Malformation 6 |
|
Atrial septal defect |
OMIM:616843 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Hydrocephalus, Severe photosensitivity, Holoprosencephaly, Atrial sept... |
OMIM:270400 |
Pancreatic And Cerebellar Agenesis |
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Secundum atrial septal defect, Reduced subcutaneous adipose tissue |
OMIM:609069 |
Chromosome 13Q14 Deletion Syndrome |
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Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Holoprosencephaly |
OMIM:613884 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:610168 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Respiratory distress, Kyphos... |
ORPHA:79318 |
Yunis-Varon Syndrome |
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Redundant neck skin, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Atri... |
ORPHA:3472 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Abnormality of the pulmonar... |
ORPHA:261537 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Atrial septal defect |
OMIM:213980 |
Bardet-Biedl Syndrome 20 |
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Atrial septal defect |
OMIM:619471 |
Liver Disease, Severe Congenital |
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Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Microphthalmia, Syndromic 2 |
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Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... |
OMIM:300166 |
Myhre Syndrome |
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Atrial septal defect, Ventricular septal defect, Pericardial effusion, Aortic valve stenosis |
OMIM:139210 |
Alagille Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice |
OMIM:118450 |
Poland Syndrome |
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Atrial septal defect, Encephalocele, Spina bifida occulta, Dextrocardia |
ORPHA:2911 |
Chromosome 16P13.3 Duplication Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Patent foramen ovale |
OMIM:225250 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Atrial septal defect, Patent foramen ovale |
OMIM:620005 |
Omodysplasia 1 |
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Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:258315 |
Oculoectodermal Syndrome |
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Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:600268 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Perianal erythema, Ectodermal dysplasia, Scaling skin, Neonatal death, Atrial septal defect, Umbi... |
OMIM:308205 |
Helsmoortel-Van Der Aa Syndrome |
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Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology |
OMIM:615873 |
Bent Bone Dysplasia Syndrome 2 |
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Atrial septal defect |
OMIM:620076 |
Simpson-Golabi-Behmel Syndrome |
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Atrial septal defect, Cardiomyopathy, Umbilical hernia, Ventricular septal defect |
ORPHA:373 |
Oculodentodigital Dysplasia |
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Atrial septal defect |
OMIM:164200 |
Wolf-Hirschhorn Syndrome |
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Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology |
ORPHA:280 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
ORPHA:3047 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Single transverse palmar crease, Short neck, Flexion contracture, Cam... |
OMIM:601803 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Carpenter Syndrome 2 |
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Dextrocardia, Situs inversus totalis, Cutis laxa, Transposition of the great arteries, Atrial sep... |
OMIM:614976 |
Neurocardiofaciodigital Syndrome |
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Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot |
OMIM:619869 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Abnormality of the pulmonar... |
ORPHA:261552 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Di... |
OMIM:607872 |
Orofaciodigital Syndrome Xiv |
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Atrial septal defect, Occipital encephalocele, Ventricular septal defect, Holoprosencephaly |
OMIM:615948 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:353281 |
Renpenning Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
OMIM:309500 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Bicuspid aortic valve, Recurren... |
ORPHA:2152 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Atrial septal defect |
OMIM:300868 |
Coffin-Siris Syndrome 1 |
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Ventricular septal defect, Cutis marmorata, Tetralogy of Fallot, Atrial septal defect, Umbilical ... |
OMIM:135900 |
Zttk Syndrome |
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Atrial septal defect, Ventricular septal defect |
OMIM:617140 |
Loeys-Dietz Syndrome 3 |
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Ventricular hypertrophy, Striae distensae, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic... |
OMIM:613795 |
Microgastria-Limb Reduction Defect Syndrome |
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Atrial septal defect, Truncus arteriosus |
ORPHA:2538 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:438213 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect |
ORPHA:459070 |
Cerebrocostomandibular Syndrome |
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Atrial septal defect, Ventricular septal defect |
OMIM:117650 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Premature graying of hai... |
OMIM:194050 |
Tetrasomy 9P |
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Pericarditis, Dextrocardia, Jaundice, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal... |
ORPHA:3310 |
Viss Syndrome |
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Prominent superficial blood vessels, Ventricular septal defect, Coronary sinus enlargement, Mitra... |
OMIM:619472 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... |
OMIM:214800 |
Schinzel-Giedion Midface Retraction Syndrome |
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Atrial septal defect |
OMIM:269150 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:220386 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:353277 |
Turnpenny-Fry Syndrome |
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Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:618371 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndactyly, Coronal craniosynosto... |
OMIM:614188 |
Alström Syndrome |
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Respiratory distress, Thoracic scoliosis, Dorsocervical fat pad, Chronic bronchitis, Kyphosis, Sh... |
ORPHA:64 |
Wolf-Hirschhorn Syndrome |
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Atrial septal defect, Hydrocephalus, Ventricular septal defect |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Ventricular septal defect, Hydrocephalus, Cardiomyopathy, Total anomalous pulmonary venous return... |
OMIM:312870 |
Transient Neonatal Diabetes Mellitus |
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Umbilical hernia, Abnormal heart morphology |
ORPHA:99886 |
Townes-Brocks Syndrome 1 |
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Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Umbilical hern... |
OMIM:107480 |
Diphallia |
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Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Kabuki Syndrome 1 |
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Atrial septal defect, Hydrocephalus, Ventricular septal defect |
OMIM:147920 |
Ctcf-Related Neurodevelopmental Disorder |
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Atrial septal defect, Prolonged neonatal jaundice |
ORPHA:363611 |
Cornelia De Lange Syndrome |
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Atrial septal defect, Ventricular septal defect, Cutis marmorata |
ORPHA:199 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Hydrocephalus, Frontal encephalocele, Stillbirth, Atrial septal defect |
OMIM:268300 |
Floating-Harbor Syndrome |
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Atrial septal defect, Umbilical hernia, Mesocardia |
OMIM:136140 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Holoprosencephaly, Atrial septal defect, Umbilical hernia, Atrioventri... |
ORPHA:672 |
Penile Agenesis |
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Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:99413 |
Mosaic Monosomy X |
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Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:99228 |
Monosomy X |
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Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:99226 |
Turner Syndrome |
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Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart |
ORPHA:881 |
Mowat-Wilson Syndrome |
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Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology |
OMIM:235730 |
Peters-Plus Syndrome |
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Ventricular septal defect, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Umbilical hernia |
OMIM:261540 |
Faciocardiomelic Syndrome |
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Common atrium |
OMIM:612731 |
Floating-Harbor Syndrome |
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Atrial septal defect, Mesocardia, Tetralogy of Fallot |
ORPHA:2044 |
Sotos Syndrome |
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Ventricular septal defect, Abnormal heart morphology, Prolonged neonatal jaundice, Atrial septal ... |
ORPHA:821 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Umbilical hernia, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect |
OMIM:300896 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Atrial septal defect, Abnormal heart morphology |
ORPHA:500150 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Ventricular septal defect |
OMIM:619522 |
Townes-Brocks Syndrome |
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Atrial septal defect, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Te... |
ORPHA:857 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:613355 |
Johanson-Blizzard Syndrome |
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Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:243800 |