Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Dyspnea, Glucose intolerance, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
OMIM:235200 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... |
OMIM:212140 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, R... |
OMIM:618886 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hypertrophic cardiomyopathy, Hy... |
OMIM:614702 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Isolated Anencephaly |
|
Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia |
OMIM:619064 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... |
ORPHA:99931 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes |
OMIM:269920 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea |
ORPHA:615 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyp... |
ORPHA:42 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Hypocalcemia, Pulmonary arteria... |
OMIM:601005 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Pulmonary arterial hypertension, Hyperalan... |
OMIM:619051 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... |
ORPHA:95430 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Elevated ... |
ORPHA:308552 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... |
OMIM:603903 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating... |
OMIM:608836 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
ORPHA:465508 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... |
ORPHA:439 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... |
ORPHA:2298 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free fatty ac... |
OMIM:610768 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... |
OMIM:306955 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... |
ORPHA:79330 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Hypo... |
OMIM:614921 |
Familial Aortic Dissection |
|
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea |
ORPHA:229 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Tachypnea,... |
ORPHA:3427 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentratio... |
OMIM:620306 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... |
OMIM:164310 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Elevated circulating creatine kinas... |
OMIM:606070 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased... |
OMIM:261740 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Mildly elevated creatine kinase |
ORPHA:600 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Highly elevated creatine kinase, Respiratory failure,... |
ORPHA:258 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Chylothorax, Thymus hyperplasia |
OMIM:619036 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Insulin resistance, Abnorm... |
ORPHA:96182 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomeg... |
ORPHA:14 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress, Panhypopituitarism, Decreased response to growth hormo... |
OMIM:618922 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Elevated circulating creatine kinase concentration... |
ORPHA:365 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependen... |
ORPHA:96191 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Ventricular septal defect, Stridor, Aspiration |
OMIM:614653 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration |
OMIM:618733 |
Esophageal Atresia |
|
Respiratory distress, Ventricular septal defect, Maternal diabetes, Episodic respiratory distress... |
ORPHA:1199 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Cough, Elevated hepat... |
OMIM:619991 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Iro... |
OMIM:300855 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Tropical Endomyocardial Fibrosis |
|
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement,... |
ORPHA:75565 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tachypnea, Polycystic ovarie... |
ORPHA:137675 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Pleural effusion, Atrial septal di... |
ORPHA:1677 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Opitz Gbbb Syndrome |
|
Aspiration, Ventricular septal defect, Cryptorchidism |
OMIM:300000 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Halperin-Birk Syndrome |
|
Aspiration, Perimembranous ventricular septal defect |
OMIM:618651 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Fucosidosis |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Upper airway obstruction, Abnormal aortic valve morphol... |
ORPHA:581 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni... |
OMIM:252500 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol... |
OMIM:256040 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Cardiomyopathy |
ORPHA:2131 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Bohring-Opitz Syndrome |
|
Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardio... |
OMIM:130650 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, N... |
ORPHA:116 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia... |
ORPHA:51 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Neonatal respiratory distress, Apnea, Decreased response to growth hormone stim... |
OMIM:619503 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Cryptorchidism |
ORPHA:404448 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Ectopic posterior pituitary, Apnea |
ORPHA:98889 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Cryptorchidism, Asthma, Abnormal hea... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Cryptorchidism, Asthma, Abnormal hea... |
ORPHA:353277 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration |
OMIM:619777 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... |
ORPHA:904 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Cardiomyopathy, Atrial septal defect, Pu... |
ORPHA:3472 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... |
ORPHA:744 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial cal... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Subv... |
OMIM:182250 |