Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites |
ORPHA:295 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Fetal distress, Reduced ejection fraction, Paroxysmal su... |
ORPHA:45452 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... |
ORPHA:1041 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Hydrops fetalis |
OMIM:618052 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Ascites, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonic s... |
OMIM:619433 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Cardiomyopathy, Atrial septal defect, Oligohydramnios... |
ORPHA:1909 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Ventricular hypertrophy, Atr... |
OMIM:115197 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic ste... |
ORPHA:2414 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
Hb Bart'S Hydrops Fetalis |
|
Preeclampsia, Pericarditis, Polyhydramnios, Oligohydramnios, Congestive heart failure, Hydrops fe... |
ORPHA:163596 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death |
OMIM:276822 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia sequence, Bradycardia, Hydrop... |
OMIM:618815 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios, Single umbilical ... |
ORPHA:3405 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia |
ORPHA:510 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hyperuricemia |
ORPHA:3222 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Premature birth, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis |
ORPHA:2123 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Edema, Atrial septal defect, Hydrops fetalis |
ORPHA:101028 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia |
OMIM:613092 |
Glycogen Storage Disease Iv |
|
Ascites, Edema, Decreased fetal movement, Cardiomyopathy, Polyhydramnios, Portal hypertension, Hy... |
OMIM:232500 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Obesity, Action tremor, Hyperuricemia |
ORPHA:77296 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid |
OMIM:608540 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Achondrogenesis, Type Ib |
|
Edema, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis |
OMIM:600972 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Stillbirth, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
Klippel-Trénaunay Syndrome |
|
Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal h... |
ORPHA:90308 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohydramnios, Atria... |
OMIM:601927 |
Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Hyperuricemia |
OMIM:300323 |
Infantile Sialic Acid Storage Disease |
|
Ascites, Premature birth, Cardiomegaly, Congestive heart failure, Hydrops fetalis |
OMIM:269920 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Dysplastic Cortical Hyperostosis |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Congenital Enterovirus Infection |
|
Myocarditis, Fetal ascites, Fetal distress, Pericardial effusion, Premature birth, Decreased feta... |
ORPHA:292 |
Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Tricu... |
OMIM:212093 |
Burkitt Lymphoma |
|
Hyperuricemia |
ORPHA:543 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Hyperuricemia |
ORPHA:261222 |
Mulibrey Nanism |
|
Pericardial constriction, Ascites, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, H... |
OMIM:253250 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia |
OMIM:617056 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Decreased plasma carnitine, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyponatremia, Failure to thrive, Hyperuricemia |
OMIM:613845 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... |
OMIM:619313 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Small for gestationa... |
OMIM:616733 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Edema, Decreased fetal movement, Abnormal cardiac septum morphology |
OMIM:608776 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Congenital Tricuspid Valve Dysplasia |
|
Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Premature birth, Card... |
ORPHA:555874 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperuricemia |
OMIM:102730 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Hyperuricemia |
OMIM:300661 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pre... |
ORPHA:363705 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Hyperuricemia |
ORPHA:411536 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Neuraminidase Deficiency |
|
Ascites, Cardiomegaly, Cardiomyopathy, Facial edema, Hydrops fetalis |
OMIM:256550 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Ascites, Palpebral edema, Palmar telangiectasia, Pleural effusion, Hydrop... |
ORPHA:69735 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Increased body mass index, Small for gestational age |
ORPHA:275555 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Fetal akinesia sequence, Neonatal death, Decreased fetal movement, Still... |
ORPHA:85212 |
Sialidosis Type 2 |
|
Ascites, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Xanthinuria, Type Ii |
|
Hypouricemia |
OMIM:603592 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Hyperuricemia, Hypertriglyceridemia |
ORPHA:79083 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Hepatomegaly, Large for gestational age |
OMIM:616026 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... |
ORPHA:199241 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
Lesch-Nyhan Syndrome |
|
Opisthotonus, Hyperuricemia, Hyperuricosuria |
OMIM:300322 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormality of the amniotic fluid, Arrhythmia, ... |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:618839 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Bradycardia, Persis... |
OMIM:618775 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Weight loss, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Premature birth, Neonatal death, Nonimmune hydrops fetalis |
OMIM:618835 |
Achondrogenesis, Type Ii |
|
Edema, Hydrops fetalis, Stillbirth, Polyhydramnios |
OMIM:200610 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Truncal obesity, H... |
OMIM:203800 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... |
ORPHA:26793 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Polyhydramnios, Si... |
OMIM:616897 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Oligohydramnios, Overriding aor... |
OMIM:617022 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Small vessel vasculit... |
ORPHA:36412 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Hyperuricosuria |
ORPHA:411543 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Nonimmune hydrops fetalis, Fetal akinesia sequence, Ascites, Polyhydramni... |
ORPHA:367 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating inosine concentration, Failure to thrive, Splenomegaly, Tremo... |
OMIM:613179 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema |
OMIM:153100 |
Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... |
OMIM:265300 |
Minicore Myopathy With External Ophthalmoplegia |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Hypouricemia, Renal, 1 |
|
Hypouricemia |
OMIM:220150 |
Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypokalemia, Failure to thrive, Hypophosphatemia |
OMIM:227810 |
Hirsutism, Skeletal Dysplasia, And Mental Retardation |
|
Hyperuricemia |
OMIM:142625 |
Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... |
OMIM:616843 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Palmar telangiectasia, Palpebral edema, Predominantly lower limb lymph... |
OMIM:607823 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... |
ORPHA:95409 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Hepatomegaly, Weight loss, Hyperuricemia, Hyperammonemia |
ORPHA:20 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis, Elevated circulating creatinine concentration |
OMIM:613095 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Failure to thrive, Weight loss, Hyperuricemia |
ORPHA:199299 |
Acute Interstitial Pneumonia |
|
Hypertension, Peripheral edema, Pleural effusion, Pericardial effusion |
ORPHA:79126 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Congestive ... |
OMIM:230500 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia |
OMIM:618183 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Transient aminoaciduria, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, H... |
OMIM:229600 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Hypertension, Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion |
OMIM:108050 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Trisomy 13 |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:3378 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion |
OMIM:617822 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Overweight,... |
ORPHA:90041 |
Hypomagnesemia 3, Renal |
|
Hypomagnesemia, Failure to thrive, Hyperuricemia |
OMIM:248250 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Capillary Malformation-Arteriovenous Malformation |
|
Lymphedema, Telangiectasia, Nonimmune hydrops fetalis, Abnormal heart morphology, Epistaxis, Cere... |
ORPHA:137667 |
Alg8-Cdg |
|
Ascites, Premature birth, Edema, Oligohydramnios, Hydrops fetalis |
ORPHA:79325 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Ascites, Edema, Raynaud phenomenon, Pleural effusion |
ORPHA:93552 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertension, Pericarditis, Pericardial effusion, Ascites, Edema, Increased blood pressure, Left ... |
OMIM:619487 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Ascites, Edema, Pleural effusion, Generalized edema |
ORPHA:90362 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion |
ORPHA:92 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Ascites, Pulmonary arterial hypertension, Abnormal myocardium morphology, P... |
ORPHA:77259 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Mitral valve calcification, Pulmonary arterial hypertension, Abnormal heart... |
ORPHA:77261 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Opisthotonus, Increased urinary taurine |
OMIM:615501 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Abnormal heart morphology, Premature birth, Cardiomyopathy, Patent duc... |
ORPHA:354 |
Nephronophthisis 2 |
|
Hyperkalemia, Situs inversus totalis, Elevated circulating creatinine concentration, Enlarged kidney |
OMIM:602088 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:166210 |
Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Endocardial fibroelastosis, Patent ductus arteriosus, Po... |
ORPHA:99776 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... |
ORPHA:85138 |
Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:613011 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Abnormality of the amniotic fluid |
OMIM:212065 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormal heart morphology, Spontaneous abortion, Single umbilical artery, Increased placental thi... |
ORPHA:1865 |
Poems Syndrome |
|
Pericardial effusion, Ascites, Edema, Pulmonary arterial hypertension, Pleural effusion |
ORPHA:2905 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis |
ORPHA:834 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Endocardial fibroelastosis, Cardiom... |
OMIM:212140 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema, Congestive heart failure, Sudden c... |
ORPHA:73224 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Achondrogenesis, Type Ia |
|
Stillbirth, Hydrops fetalis, Polyhydramnios |
OMIM:200600 |
Trisomy 1Q |
|
Ventricular septal defect, Patent ductus arteriosus, Polyhydramnios, Increased nuchal translucenc... |
ORPHA:261344 |
Q Fever |
|
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, V... |
ORPHA:781 |
Mgat2-Cdg |
|
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Reflex asystolic ... |
ORPHA:79329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pericardial lymphangiectas... |
OMIM:235510 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine |
ORPHA:54057 |
Gaucher Disease, Perinatal Lethal |
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Nonimmune hydrops fetalis, Ascites, Premature birth, Neonatal death, Decreased fetal movement, Ca... |
OMIM:608013 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria |
ORPHA:94088 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Hyperlipidemia, Failure to thrive, Hyperuricemia, Hypercholesterolemia, Hypertrigly... |
ORPHA:79259 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Campomelia, Cumming Type |
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Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Alg9-Cdg |
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Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal heart mor... |
ORPHA:79328 |
Carnitine Palmitoyltransferase I Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Pyruvate Kinase Deficiency Of Red Cells |
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Nonimmune hydrops fetalis, Abnormality of the amniotic fluid |
OMIM:266200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
Kaposiform Lymphangiomatosis |
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Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Pleural effusion |
ORPHA:464329 |
Fibrochondrogenesis 1 |
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Patent foramen ovale, Stillbirth, Hydrops fetalis |
OMIM:228520 |
Mucopolysaccharidosis Type 7 |
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Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
Galactosialidosis |
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Nonimmune hydrops fetalis, Conjunctival telangiectasia |
OMIM:256540 |
Mucopolysaccharidosis, Type Vii |
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Abnormal heart valve morphology, Cardiomyopathy, Hydrops fetalis |
OMIM:253220 |
Diffuse Alveolar Hemorrhage |
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Weight loss, Elevated circulating creatinine concentration |
ORPHA:90060 |
Hereditary Xanthinuria |
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Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Nonimmune hydrops fetalis, Pleural effusion, Ascites |
OMIM:617049 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Hepatomegaly, Elevated circulating creatinine concentration |
OMIM:614376 |
Juvenile Nephropathic Cystinosis |
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Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... |
ORPHA:411634 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration |
OMIM:123550 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Familial Osteodysplasia, Anderson Type |
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Hyperuricemia |
ORPHA:2769 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... |
ORPHA:99827 |
Cockayne Syndrome |
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Hepatomegaly, Cachexia, Intention tremor, Hyperuricemia, Splenomegaly, Action tremor |
ORPHA:191 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Hypouricemia, Opisthotonus, Increased urinary taurine |
OMIM:252160 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Ascites, Hydrops fetalis |
OMIM:614091 |
Relapsing Fever |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Atrial septal defect, Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Fetal polyuria, Premature birth, Edema, Polyhydramnios, Hydrops fetalis |
OMIM:602522 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hepatomegaly, Decreased HDL cholesterol concentration, Weight loss, Elevated circulating creatini... |
ORPHA:85450 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Fraser Syndrome 3 |
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Hydrops fetalis |
OMIM:617667 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Pulm... |
OMIM:265380 |
Developmental And Epileptic Encephalopathy 68 |
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Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Generalized aminoaciduria, Hypokalemia, Weight loss, Hypophosphatemia, Hyperuricosu... |
ORPHA:3337 |
Eisenmenger Syndrome |
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Hepatomegaly, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal defect, A... |
ORPHA:97214 |
Greenberg Dysplasia |
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Nonimmune hydrops fetalis, Neonatal death, Cardiomegaly, Stillbirth, Polyhydramnios, Pleural effu... |
OMIM:215140 |
Gm1 Gangliosidosis Type 1 |
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Abnormal placenta morphology, Cardiomyopathy, Hydrops fetalis |
ORPHA:79255 |
Sickle Cell Anemia |
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Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Gitelman Syndrome |
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Prominent U wave, Syncope, Maternal diabetes, Abnormal T-wave, Pericardial effusion, Prolonged QT... |
ORPHA:358 |
Lethal Ataxia With Deafness And Optic Atrophy |
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Hypouricemia |
ORPHA:1187 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmonary arterial hypert... |
ORPHA:79282 |
Danon Disease |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia |
ORPHA:760 |
Multiple Myeloma |
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Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Sple... |
ORPHA:29073 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Elevated circulating creatinine... |
OMIM:617478 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Hyperuricemia |
ORPHA:93111 |
Hennekam Syndrome |
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Lymphedema, Pericardial effusion, Ascites, Hydrops fetalis, Chylothorax |
ORPHA:2136 |
Aapoaiv Amyloidosis |
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Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Cardiac amyloidosis, ... |
ORPHA:439232 |
Tsh-Secreting Pituitary Adenoma |
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Hypertension, Pericardial effusion, Ventricular arrhythmia, Palpitations, Congestive heart failur... |
ORPHA:91347 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia |
OMIM:235400 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Hypouricemia, Opisthotonus, Increased urinary taurine |
OMIM:252150 |
Farber Disease |
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Ascites, Joint swelling, Hydrops fetalis |
ORPHA:333 |
Oligomeganephronia |
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Elevated circulating creatinine concentration, Secundum atrial septal defect, Small for gestation... |
ORPHA:2260 |
Generalized Arterial Calcification Of Infancy |
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Recurrent spontaneous abortion, Hypertension, Myocardial calcification, Fetal distress, Pericardi... |
ORPHA:51608 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Hydrops fetalis |
OMIM:263520 |
Aymé-Gripp Syndrome |
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Pericarditis, Pericardial effusion, Patent ductus arteriosus |
ORPHA:1272 |
Chédiak-Higashi Syndrome |
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Edema, Epistaxis, Pleural effusion, Pericardial effusion |
ORPHA:167 |
Mycophenolate Mofetil Embryopathy |
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Ventricular septal defect, Hydrops fetalis |
ORPHA:268249 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Mitral valve prolapse, Pericardial effusion |
ORPHA:536532 |
Cranioectodermal Dysplasia 2 |
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Hypertension, Patent ductus arteriosus, Polyhydramnios, Left ventricular hypertrophy, Atrial sept... |
OMIM:613610 |
Lymphangioleiomyomatosis |
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Lymphedema, Chylopericardium, Ascites, Gastrointestinal hemorrhage, Chylothorax |
ORPHA:538 |
Familial Isolated Dilated Cardiomyopathy |
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Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
ORPHA:154 |
Bacterial Toxic-Shock Syndrome |
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Myocarditis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:36234 |
Gaucher Disease |
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Mitral valve calcification, Pulmonary arterial hypertension, Abnormal heart valve morphology, Aor... |
ORPHA:355 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Ab... |
ORPHA:860 |
Hereditary Elliptocytosis |
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Hydrops fetalis |
ORPHA:288 |
Myhre Syndrome |
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Hypertension, Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Atrial s... |
OMIM:139210 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated circulating creatinine concentration, Cardiomyopathy |
ORPHA:247691 |
Pearson Syndrome |
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Corneal stromal edema, Cardiac conduction abnormality, Abnormal heart morphology, Cardiomyopathy,... |
ORPHA:699 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Atrial septal defect, Hydrops fetalis, Polyhydramnios |
OMIM:300868 |
Igg4-Related Retroperitoneal Fibrosis |
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Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote... |
ORPHA:49041 |
Attrv122I Amyloidosis |
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Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... |
ORPHA:85451 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration, Mitral valve prolapse, Enlarged kidney |
ORPHA:730 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Blomstrand Lethal Chondrodysplasia |
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Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Yunis-Varon Syndrome |
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Hypertension, Ventricular septal defect, Renovascular hypertension, Pulmonary arterial hypertensi... |
ORPHA:3472 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Cardiomyopathy, Dilated, 1Y |
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Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exaggerated startle r... |
OMIM:253800 |
Congenital Disorder Of Glycosylation, Type Iit |
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Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine |
OMIM:618885 |
Sarcoidosis, Susceptibility To, 1 |
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Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion |
OMIM:181000 |
Phocomelia, Schinzel Type |
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Hydrops fetalis |
ORPHA:2879 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... |
ORPHA:90038 |
Autoimmune Lymphoproliferative Syndrome |
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Vasculitis, Hydrops fetalis |
ORPHA:3261 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Asparagine Synthetase Deficiency |
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Failure to thrive, Exaggerated startle response |
OMIM:615574 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Sandhoff Disease |
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Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response |
OMIM:268800 |
Igg4-Related Kidney Disease |
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Pericarditis, Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:449395 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dextrocardia, Hepatomegaly, Primum atrial septal defect, Ventricular septal defect, Failure to th... |
OMIM:619534 |
Blackfan-Diamond Anemia |
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Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Nonimmune hydrops fet... |
ORPHA:124 |
Marburg Hemorrhagic Fever |
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Hyperamylasemia, Pericarditis, Hypokalemia, Elevated circulating creatine kinase concentration, E... |
ORPHA:99826 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Niemann-Pick Disease Type C |
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Fetal ascites, Ascites, Hydrops fetalis |
ORPHA:646 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Elevated circulating creatinine concentration, Decreased body weight, Hyperphosphat... |
ORPHA:340 |
Hepatoerythropoietic Porphyria |
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Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid |
ORPHA:95159 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Stiff-Person Syndrome |
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Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response |
ORPHA:309246 |
Pauci-Immune Glomerulonephritis |
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Elevated circulating creatinine concentration |
ORPHA:93126 |
Yellow Fever |
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Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:99829 |
Congenital Erythropoietic Porphyria |
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Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid |
ORPHA:79277 |
Cardiomyopathy, Familial Hypertrophic, 3 |
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Hypertrophic cardiomyopathy |
OMIM:115196 |
Tay-Sachs Disease |
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Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response |
ORPHA:845 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response |
OMIM:272750 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Premature birth, Pulmonary arterial hypertension, Cardiomyopathy, Poly... |
OMIM:216340 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote... |
ORPHA:91500 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Failure to thrive, Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
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Failure to thrive, Exaggerated startle response |
ORPHA:521426 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response |
ORPHA:438216 |
Pmm2-Cdg |
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Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Pericardial effusion, Angina ... |
ORPHA:79318 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Exaggerated startle ... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Atrial septal defect, Exaggerated startle response |
OMIM:619522 |