Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... |
OMIM:619433 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Hyperuricemia |
OMIM:308950 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... |
ORPHA:2414 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
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, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi... |
OMIM:618815 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Obesity, Hyperuricemia, Hypercholesterolemia, Action tremor |
ORPHA:77296 |
Diffuse Neonatal Hemangiomatosis |
|
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
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 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Cardiomyop... |
OMIM:232500 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hyperuricemia |
ORPHA:3222 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia |
ORPHA:510 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Failure to thrive, Bicuspid aortic valve, Tremor, Decreased serum creatinin... |
OMIM:617744 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa... |
OMIM:613845 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis |
OMIM:608540 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Patent ductus a... |
ORPHA:90308 |
Infantile Sialic Acid Storage Disease |
|
Premature birth, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Ascites |
OMIM:269920 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... |
ORPHA:79083 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia |
OMIM:613092 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Mulibrey Nanism |
|
Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Pericardial constri... |
OMIM:253250 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia, Obesity |
ORPHA:261222 |
Burkitt Lymphoma |
|
Hyperuricemia |
ORPHA:543 |
Congenital Disorder Of Glycosylation, Type Il |
|
Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuri... |
OMIM:616026 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Preeclampsia |
|
Type I diabetes mellitus, Increased body mass index, Elevated circulating creatinine concentratio... |
ORPHA:275555 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... |
ORPHA:555874 |
Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperb... |
ORPHA:348 |
Neuraminidase Deficiency |
|
Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Ascites |
OMIM:256550 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Sialidosis Type 2 |
|
Ascites, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:203800 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Small for gestationa... |
OMIM:616733 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Intracranial hemorrhage, Stil... |
ORPHA:85212 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr... |
OMIM:620244 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... |
OMIM:620167 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Anhydramnios |
OMIM:613885 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Type I diabe... |
ORPHA:199299 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Singl... |
OMIM:616897 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequence, Congesti... |
ORPHA:367 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Failure to thrive |
OMIM:239000 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Dilated cardiomyopathy, Hyperammonemia, Weight loss, Recur... |
ORPHA:20 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... |
ORPHA:199241 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... |
OMIM:620070 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... |
ORPHA:90041 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... |
OMIM:212093 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Enlarged kidney |
OMIM:232200 |
Lesch-Nyhan Syndrome |
|
Choreoathetosis, Dystonia, Hyperuricemia, Opisthotonus |
OMIM:300322 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... |
OMIM:609015 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel... |
ORPHA:36412 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... |
ORPHA:95409 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Glycosuria, Hypokalemia,... |
OMIM:227810 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis |
ORPHA:834 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Tremor, Splenomegaly, Failure to thr... |
OMIM:613179 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria |
OMIM:615605 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hepatomegaly, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, H... |
OMIM:229600 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperlipidemia, Hyperuricemia, Enlarged kidney |
OMIM:232220 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor |
OMIM:612736 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... |
ORPHA:94093 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
Gm1-Gangliosidosis, Type I |
|
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... |
OMIM:230500 |
Alg8-Cdg |
|
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios |
ORPHA:79325 |
Addison Disease |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... |
ORPHA:85138 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Achondrogenesis, Type Ii |
|
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Trisomy 1Q |
|
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu... |
ORPHA:261344 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Pulmonary arterial hypertensio... |
ORPHA:77259 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Increased blood pre... |
OMIM:619487 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Perimembranous ventricular septal de... |
OMIM:608104 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Hydrops fetal... |
OMIM:617022 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Cardiom... |
ORPHA:42 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... |
ORPHA:77261 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Hyperuri... |
ORPHA:79259 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Premature birth, Congestive heart failure, Patent ductus arteriosus, H... |
ORPHA:354 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Patent ... |
ORPHA:99776 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality... |
OMIM:212065 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney |
OMIM:602088 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites |
ORPHA:2905 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Hyperuricemia |
OMIM:300661 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232240 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Increased placental thickness, Hydrops fetalis, Abnormal heart morphology |
ORPHA:1865 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... |
ORPHA:781 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
Wilson Disease |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, ... |
OMIM:277900 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Decreased fetal movement, Tricuspid regurgitation, Ventricular septal... |
ORPHA:79328 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hyperuricemia |
ORPHA:93111 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion |
ORPHA:464329 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Cockayne Syndrome |
|
Hepatomegaly, Diabetes mellitus, Cachexia, Action tremor, Splenomegaly, Hyperuricemia, Intention ... |
ORPHA:191 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Hyperlipidemia, Elevated circulating creatinine concentration, Hypertrophic ca... |
ORPHA:439232 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis |
OMIM:256540 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Fibrochondrogenesis 1 |
|
Stillbirth, Patent foramen ovale, Hydrops fetalis |
OMIM:228520 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Weight l... |
ORPHA:3337 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... |
OMIM:137940 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... |
ORPHA:99827 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Elevated circulating creatinine concentration |
OMIM:614376 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Abnormal heart valve morphology, Hydrops fetalis |
OMIM:253220 |
Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Hydrops fetalis, Abnormal placenta morphology |
ORPHA:79255 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein concentration, A... |
ORPHA:97214 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Hypertension, Hypertrophic ca... |
OMIM:615846 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Farber Disease |
|
Joint swelling, Ascites, Hydrops fetalis |
ORPHA:333 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... |
ORPHA:79282 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Low-to-normal blood pressure, Sy... |
ORPHA:358 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Elevated urinary S-sulfocysteine level, Hypouricemia, Increased urinary taurine, Opisthotonus |
OMIM:252150 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia |
ORPHA:760 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary taurine, Hypouricemia, Opisthotonus |
OMIM:252160 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... |
ORPHA:51608 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Epistaxis, Edema |
ORPHA:167 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... |
OMIM:620369 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Pericarditis, Pericardial effusion |
ORPHA:1272 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis |
ORPHA:268249 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Hydro... |
OMIM:300868 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse |
ORPHA:536532 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
Oligomeganephronia |
|
Secundum atrial septal defect, Elevated circulating creatinine concentration, Small for gestation... |
ORPHA:2260 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Hypertension, Atrial s... |
OMIM:139210 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Hypertension, Atrial septal defect, Le... |
OMIM:613610 |
Pearson Syndrome |
|
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal ... |
ORPHA:699 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Cardiomyopathy, Elevated circulating creatinine concentration |
ORPHA:247691 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote... |
ORPHA:49041 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... |
ORPHA:3472 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Failure to thrive |
OMIM:616881 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Enlarged kidney, Mitral valve prolapse |
ORPHA:730 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Atrial septal defect, Exaggerated startle response, Patent foramen ovale |
OMIM:620327 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly |
OMIM:268800 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Hydrops fetalis |
ORPHA:3261 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... |
ORPHA:845 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive |
OMIM:617864 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... |
ORPHA:99826 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Diamond-Blackfan Anemia |
|
Atrial septal defect, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morpho... |
ORPHA:124 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia |
OMIM:615574 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Niemann-Pick Disease Type C |
|
Ascites, Hydrops fetalis, Fetal ascites |
ORPHA:646 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we... |
ORPHA:340 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Hepatoerythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Failure to thrive, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjug... |
OMIM:619534 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Igg4-Related Kidney Disease |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Failure to thrive, 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 |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... |
ORPHA:99829 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Failure to thrive |
OMIM:617527 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardio... |
OMIM:216340 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... |
ORPHA:79318 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Decreased serum i... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Exaggerated startle response, Ventricular septal defect |
OMIM:619522 |