Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency |
ORPHA:295 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion |
OMIM:619462 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Hydrops fetalis, Syncope, Nonimmune hydrops fetalis, Ve... |
OMIM:603830 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... |
ORPHA:1041 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... |
ORPHA:1909 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Ascites, Pulmonic stenosis,... |
OMIM:619433 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Hyperuricemia |
OMIM:308950 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Preecla... |
ORPHA:163596 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:618815 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Diabetes mellitus, Action tremor, Hypercholesterolemia, Obesity |
ORPHA:77296 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ascites, Premature birth |
ORPHA:2123 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... |
OMIM:620014 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Edema, Ascites, Portal hypertension, C... |
OMIM:232500 |
Transaldolase Deficiency |
|
Telangiectasia, Hydrops fetalis, Atrial septal defect, Edema, Biventricular hypertrophy |
ORPHA:101028 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Cardiomyopathy |
ORPHA:3222 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia |
ORPHA:510 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Hepatomegaly, Elevated circulatin... |
OMIM:617872 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:619003 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Internal... |
ORPHA:90308 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Fai... |
OMIM:617744 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Lymphedema, Atrial septal d... |
OMIM:601927 |
Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Congestive heart failure, Cardiomegaly, Ascites, Premature birth |
OMIM:269920 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:608540 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Failure to thrive, Diabetes mellitus, Increased blood urea nitrogen, Hyponatremia,... |
OMIM:613845 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Maternal diabetes, Insulin resistance, Diabetes mellitus, Hypertrophic cardiomyopa... |
ORPHA:79083 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Breech presentation, Edema, Stillbirth |
OMIM:600972 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Premature birth |
OMIM:215045 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Decreased plasma carnitine, Hypoglycemia, Hyperammonemia, Hepatomegaly |
OMIM:246450 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia |
OMIM:613092 |
Mulibrey Nanism |
|
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Cardiom... |
OMIM:253250 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:2204 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Decreased fet... |
ORPHA:292 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Decreased fetal movement, Edema, Ascites |
OMIM:608776 |
Burkitt Lymphoma |
|
Hyperuricemia |
ORPHA:543 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hypophosphatemia, Large for gestational age, Diabetes mellitus, Hypogl... |
OMIM:616026 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... |
ORPHA:275555 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Hyperuricemia |
ORPHA:261222 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, P... |
ORPHA:69735 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia,... |
ORPHA:348 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
Xanthinuria, Type Ii |
|
Hypouricemia, Hyperxanthinemia, Increased circulating hypoxanthine concentration |
OMIM:603592 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Hydrops fetalis, Cardiomegaly, Ascites, Facial edema |
OMIM:256550 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Patent ductus arteriosus, Cardiomegaly, Persiste... |
ORPHA:363705 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hyperuricemia, Dilated cardiomyopathy, Decreased HDL cholesterol concentration,... |
OMIM:203800 |
Sialidosis Type 2 |
|
Pedal edema, Ascites, Hydrops fetalis |
ORPHA:87876 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Left ventricular hypert... |
OMIM:616733 |
Fetal Gaucher Disease |
|
Fetal akinesia sequence, Hydrops fetalis, Decreased fetal movement, Intracranial hemorrhage, Stil... |
ORPHA:85212 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Cardiomegaly, Nonimmune hydrops fetalis |
OMIM:618838 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Anhydramnios |
OMIM:613885 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... |
OMIM:265300 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Type I diabetes mellitus, Failure to thrive, Hypoglycem... |
ORPHA:199299 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hypertrophic cardio... |
OMIM:616897 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval, Pericardial effusion |
ORPHA:231111 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Congestive heart failure, Nonimm... |
ORPHA:367 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Neonatal death, Premature birth, Cardiomyopathy |
OMIM:618839 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hydrops fetalis, Prenatal maternal abnormality, Dilated cardiomyopathy, Congestive heart failure,... |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Premature birth |
OMIM:618835 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Failure to thrive, Hydroxyprolinemia |
OMIM:239000 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Nonketotic hypoglycemia, Dilated cardiomyopathy, Hyperammonemia, Recu... |
ORPHA:20 |
Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... |
OMIM:212093 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Failure to thrive, Hypouric... |
OMIM:227810 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Hypoalbuminemia |
ORPHA:88643 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Enlarged kidney, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Fasting hypoglycemia |
OMIM:232200 |
Lesch-Nyhan Syndrome |
|
Choreoathetosis, Opisthotonus, Hyperuricemia, Dystonia |
OMIM:300322 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Decreased fetal movement, Hydrops fetalis |
OMIM:255320 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas |
OMIM:153100 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal he... |
ORPHA:36412 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Decreased fetal movement, Atrial septal defect, Multiple mu... |
OMIM:620070 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural effusion, Ed... |
OMIM:616843 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Overwe... |
ORPHA:90041 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H... |
ORPHA:95409 |
Hereditary Fructose Intolerance |
|
Hyperuricemia, Hypophosphatemia, Hypermagnesemia, Reactive hypoglycemia, Hepatomegaly |
ORPHA:469 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis |
ORPHA:834 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Failure... |
OMIM:229600 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Failure to thrive, Increased circulating guanosine c... |
OMIM:613179 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Splenomegaly |
OMIM:232220 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Hypertension, Peripheral edema |
ORPHA:79126 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, A... |
OMIM:230500 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Impaired glucose tolerance, Glycosuria, Maturity-onset diabetes of the young, Diab... |
OMIM:137920 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating creatine ... |
ORPHA:94093 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Addison Disease |
|
Hyperuricemia, Weight loss, Hyperkalemia, Type I diabetes mellitus, Increased circulating renin l... |
ORPHA:85138 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Ascites, Generalized edema |
ORPHA:90362 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
Alg8-Cdg |
|
Hydrops fetalis, Oligohydramnios, Edema, Ascites, Premature birth |
ORPHA:79325 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed... |
OMIM:153400 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Tremor, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth |
OMIM:200610 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Congestive heart failure, Nonimmune hydrops fetali... |
ORPHA:137667 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Impaired gluconeogenesis, Decreased plasma carnitine, Elevated circulating creati... |
OMIM:212140 |
Trisomy 1Q |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Increased n... |
ORPHA:261344 |
Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Atrial septal defect |
ORPHA:3378 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Ascites, Abnormal myocardium ... |
ORPHA:77259 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Ascites |
ORPHA:93552 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Failure to thrive, Hepatomegaly, Elevated circulating c... |
OMIM:608104 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ... |
OMIM:619487 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia |
OMIM:618183 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomegal... |
OMIM:617022 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fe... |
OMIM:607823 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Dextrocardia, Situs inversus t... |
OMIM:613095 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pericardi... |
OMIM:235510 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Mitral valve calcification, Hydrops fetalis, Pericardial effusio... |
ORPHA:77261 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness, Fatigable weakness of neck muscles, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Enlarged kidney, Failure to thrive, Hypoglycemia, Hypoglycemic seizures, Hyperlipi... |
ORPHA:79259 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Edema, Pleural effusion |
OMIM:617822 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Atrial sept... |
ORPHA:99776 |
Gm1 Gangliosidosis |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Congestive heart failure, A... |
ORPHA:354 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypertaurinemia, Increased urinary taurine, Hypocystinemia, Hypouricemia |
OMIM:615501 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis, Pulmonary insufficiency, Congestive heart failure |
OMIM:166210 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Nonket... |
OMIM:608836 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites |
ORPHA:2905 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Abnormality of the amniotic... |
OMIM:212065 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Situs inversus totalis, Enlarged kidney, Hyperkalemia |
OMIM:602088 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Hyperuricemia |
OMIM:300661 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Increased placental thickness, Hydrops fetalis, Abnormal heart morphology |
ORPHA:1865 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h... |
ORPHA:73224 |
Q Fever |
|
Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Abnormal left ventricular fun... |
ORPHA:781 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Reflex asystolic syncope, A... |
ORPHA:79329 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Desquamation of skin soon after birth, Decreased fetal movement, Nonimmune hydrop... |
OMIM:608013 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia, Hepatomegaly |
OMIM:232240 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis, Cardiomyopathy |
ORPHA:88618 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive,... |
ORPHA:411634 |
Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... |
ORPHA:79328 |
Wilson Disease |
|
Aminoaciduria, Glycosuria, Limb dystonia, Decreased circulating ceruloplasmin concentration, Incr... |
OMIM:277900 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hyperuricemia |
ORPHA:93111 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... |
OMIM:255120 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Pleural effusion, Epistaxis, Subconjunctival hemorrhage |
ORPHA:464329 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis |
OMIM:256540 |
Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Abnormal heart valve morphology, Cardiomyopathy |
OMIM:253220 |
Cockayne Syndrome |
|
Hyperuricemia, Cachexia, Intention tremor, Diabetes mellitus, Action tremor, Hepatomegaly, Spleno... |
ORPHA:191 |
Fibrochondrogenesis 1 |
|
Patent foramen ovale, Hydrops fetalis, Stillbirth |
OMIM:228520 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Increased nuchal translucency, Absence of stomach bu... |
OMIM:200600 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Diabetes mellitus, Hypertrophic cardiomyopathy, Hyperlipidemia, Elevated cir... |
ORPHA:439232 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... |
ORPHA:230 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Generalized a... |
ORPHA:3337 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Atrioventricular canal defect, Nonimmune hydrops fetalis, Pleural effusion, Paten... |
OMIM:265380 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Oligohydramnios, Stillbirth,... |
OMIM:617667 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Lymphedema, Nonimmune hydrops fetalis, Facial telangiectasia in butterfly midface distribution, P... |
OMIM:137940 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... |
ORPHA:99827 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Hepatomegaly |
OMIM:614376 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Hereditary Xanthinuria |
|
Hyperxanthinemia, Hypouricemia |
ORPHA:3467 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Atrial septal defect |
OMIM:616546 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy |
ORPHA:79255 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Hyperuricemia, Bacterial endocarditis, Aortopulmonary window, Vent... |
ORPHA:97214 |
Hennekam Syndrome |
|
Hydrops fetalis, Lymphedema, Pericardial effusion, Chylothorax, Ascites |
ORPHA:2136 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Tremor, Elevated circulating creatinine concentration |
OMIM:274150 |
Aicardi-Goutieres Syndrome 7 |
|
Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Edema, Hemateme... |
OMIM:615846 |
Gitelman Syndrome |
|
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... |
ORPHA:358 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased... |
ORPHA:85450 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hydrops fetalis, Dilated cardiomyopathy, Sub... |
ORPHA:79282 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Farber Disease |
|
Ascites, Hydrops fetalis, Joint swelling |
ORPHA:333 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Partial anomalous pulmonary ... |
OMIM:617478 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Greenberg Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Echogenic fetal bowel, Stillbirth, La... |
OMIM:215140 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia |
ORPHA:760 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Polyhydramnios, Hydrops fetalis, Ventricular... |
ORPHA:51608 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv... |
ORPHA:91347 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Opisthotonus, Increased urinary taurine, Hypouricemia |
OMIM:252160 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Opisthotonus, Increased urinary taurine, Hypouricemia |
OMIM:252150 |
Chédiak-Higashi Syndrome |
|
Epistaxis, Edema, Pleural effusion, Pericardial effusion |
ORPHA:167 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation |
OMIM:263520 |
Multiple Myeloma |
|
Weight loss, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Sple... |
ORPHA:29073 |
Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites |
ORPHA:538 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Patent ductus arteriosus |
ORPHA:1272 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect |
ORPHA:268249 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Fetal distress, Atrial septal defect, ... |
OMIM:300868 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse |
ORPHA:536532 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Oligomeganephronia |
|
Small for gestational age, Elevated circulating creatinine concentration, Secundum atrial septal ... |
ORPHA:2260 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Hydrops fetalis, Edema, Fetal polyuria, Premature birth |
OMIM:602522 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Exaggerated startle response |
ORPHA:3198 |
Myhre Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Hypertension, Atrial s... |
OMIM:139210 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Abnormal pericardium morphology, Mitral valve calcification, Hyd... |
ORPHA:355 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Hydrops fetalis, Left ventricular... |
OMIM:613610 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia |
OMIM:618885 |
Pearson Syndrome |
|
Hydrops fetalis, Corneal stromal edema, Cardiac conduction abnormality, Abnormal heart morphology... |
ORPHA:699 |
Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Premature birth |
ORPHA:50945 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration, Cardiomyopathy |
ORPHA:247691 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Hype... |
ORPHA:3472 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Mitral valve prolapse, Enlarged kidney |
ORPHA:730 |
Stiff-Person Syndrome |
|
Diabetes mellitus, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Decreased fetal movement, Nonimmun... |
OMIM:208150 |
Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Exaggerated startle response |
OMIM:616881 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion |
OMIM:181000 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Sandhoff Disease |
|
Cardiomegaly, Exaggerated startle response, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Vasculitis |
ORPHA:3261 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Asparagine Synthetase Deficiency |
|
Failure to thrive, Exaggerated startle response |
OMIM:615574 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Pericarditis, Hypoglycemia, Hype... |
ORPHA:99826 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Exaggerated startle response |
OMIM:617864 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La... |
ORPHA:845 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Blackfan-Diamond Anemia |
|
Abnormal heart morphology, Nonimmune hydrops fetalis, Atrial septal defect, Ventricular septal de... |
ORPHA:124 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Ascites, Hydrops fetalis |
ORPHA:646 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventricular canal defect, Ve... |
OMIM:619534 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Decreased body weight, Hyperkal... |
ORPHA:340 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Hepatoerythropoietic Porphyria |
|
Edema, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis |
ORPHA:95159 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Weight loss, Enlarged kidney, Pericarditis, Elevated cir... |
ORPHA:449395 |
Plaa-Associated Neurodevelopmental Disorder |
|
Failure to thrive, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Congenital Erythropoietic Porphyria |
|
Edema, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis |
ORPHA:79277 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pancreatic hyperplasia, Elevat... |
ORPHA:99829 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Patent foramen ovale, Hydrops fetalis, Ventricul... |
OMIM:216340 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Failure to thrive, Exaggerated startle response |
OMIM:617527 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Pmm2-Cdg |
|
Lymphedema, Pericardial effusion, Intracranial hemorrhage, Angina pectoris, Pericarditis, Hypertr... |
ORPHA:79318 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Exaggerated startle response, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Atrial septal defect |
OMIM:619522 |