Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis |
ORPHA:93304 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Short stature, Disproportionate short-trunk short s... |
ORPHA:163665 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Tetralogy of Fallot, Abnormality of the vertebral column, Lethargy, Failure to thrive, Abnormal v... |
OMIM:250620 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Osteoarthritis With Mild Chondrodysplasia |
|
Short stature, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebral... |
OMIM:604864 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Disproportionate short-trunk short stature, Irregular vertebral endplates, ... |
OMIM:609223 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Brachyolmia Type 2 |
|
Platyspondyly, Short stature |
OMIM:613678 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Short stature, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies |
OMIM:616583 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Postnatal growth retardation, Platyspondyly, Severe short stature, Scoliosis |
OMIM:618728 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Proportionate short stature |
OMIM:608361 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Disproportionat... |
OMIM:271630 |
Morquio Syndrome C |
|
Platyspondyly, Severe short stature |
OMIM:252300 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Lethargy, Intrauterine growth retardation |
ORPHA:26792 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Mild short stature, Platyspondyly, Vertebral wedging |
OMIM:617719 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Small for gestational age, Lethargy |
OMIM:617065 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Dental Anomalies And Short Stature |
|
Short stature, Mitral valve prolapse, Platyspondyly, Herniation of intervertebral nuclei, Scolios... |
OMIM:601216 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Short stature |
OMIM:609324 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:181350 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Lethargy, Failure to thrive |
OMIM:274270 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal intervertebral disk morphology, Abnormal heart valve morpho... |
ORPHA:1345 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Growth delay, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:613561 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Severe short stature, Flared, irregular rib ends |
ORPHA:168555 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Anterior rib cupping, Splenomegaly, Disproportionate short-trunk short... |
OMIM:602271 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Idiopathic Intracranial Hypertension |
|
Back pain, Lethargy, Obesity, Depression |
ORPHA:238624 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E... |
ORPHA:90044 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... |
ORPHA:171445 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Scoliosis |
ORPHA:85174 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Short stature |
OMIM:617974 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Lethargy, Cardiomegaly |
OMIM:619064 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Short stature, Hypoplasia of the odontoid process |
ORPHA:85172 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Lethargy |
ORPHA:254857 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Severe short stature, Ovoid vertebral bodies, Enlargement of the costochondral junction, Platyspo... |
OMIM:609052 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris |
OMIM:614025 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate... |
ORPHA:206559 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Osteoporosis of vertebrae, Short stature, Platyspondyly |
OMIM:156510 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:300695 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618228 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospon... |
ORPHA:85198 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Hypoplasia of the odontoid pr... |
OMIM:264180 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age |
OMIM:610498 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Glutaric Acidemia Type 3 |
|
Lethargy, Sacral dimple, Failure to thrive |
ORPHA:35706 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Short stature, Severe short statur... |
ORPHA:99642 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Congenital Myopathy 8 |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... |
OMIM:234250 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Proportionate short stature |
ORPHA:93283 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Lethargy |
OMIM:618224 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:613982 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly, Short stature |
OMIM:271600 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Lethargy |
OMIM:602390 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Failure to thrive, Lethargy, Scoliosis |
OMIM:201470 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hypertrophic ca... |
OMIM:212140 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Anterior rib punctate calcifications, Abnormal form of... |
ORPHA:1426 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Disproportionate sho... |
OMIM:602557 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Weight loss |
ORPHA:30925 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy |
OMIM:246900 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Lethargy, Ventricular septal defect, Short stature |
ORPHA:49827 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Small for gestational age, Short neck, Cardiomegaly, Postnatal growth retardation,... |
OMIM:613320 |
Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Pericardial effusion, Cardiomegaly, La... |
OMIM:239850 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma... |
ORPHA:263297 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:28 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o... |
OMIM:184100 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:600649 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Severe short stature, Thoracolumbar scoliosis |
OMIM:313420 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Short neck, Platyspondyly, Intrauterine growth retardation, Failure to thrive |
OMIM:618958 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetr... |
OMIM:252920 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Lethargy |
OMIM:500007 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Severe short stature, Hyperlordosis, Short neck, Disproportionate short stature, Hepatosplenomega... |
ORPHA:93352 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Lethargy, Failure to thrive |
ORPHA:79312 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Dispropo... |
OMIM:619698 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... |
OMIM:156530 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Hepatomegaly, Failure to thrive, Lethargy |
OMIM:618226 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Ogden Syndrome |
|
Postnatal growth retardation, Lethargy, Ventricular septal defect, Scoliosis |
ORPHA:276432 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Weight loss, Depression |
ORPHA:178029 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Scoliosis, Intrauterine growth retardation, Failure to thrive, Leth... |
ORPHA:2169 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Large for gestational age |
ORPHA:276556 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Dilated cardiomyopathy, Short stature |
OMIM:618120 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Failure to thrive, Lethargy, Hepatomegaly |
ORPHA:2394 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect, Short neck, Abnormal rib morphology, Platyspondyly |
ORPHA:93267 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Atrial septal defect, Lethargy, Failure to thrive, Horizontal ribs |
OMIM:614857 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Small for gestational age, Short ribs, Lethargy, Failure to thrive, Patent foramen ov... |
OMIM:607143 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Lethargy, Hypertrophic cardio... |
ORPHA:3282 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Bone-marrow f... |
OMIM:278000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis |
OMIM:259440 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Large for gestational age |
ORPHA:276575 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Short stature, Scoliosis, Thin ribs |
OMIM:615220 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Kyphoscoliosis |
OMIM:617105 |
Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Short stature, Biconcave vertebral bodies, Vertebral wedging |
OMIM:610967 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Large for gestational age |
ORPHA:276580 |
Geroderma Osteodysplastica |
|
Severe short stature, Vertebral compression fracture, Abnormal form of the vertebral bodies, Grow... |
ORPHA:2078 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Mitral valve prolapse |
ORPHA:90653 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Severe short stature, Rhizomelia |
OMIM:619598 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Failure to thrive, Moderately short stature |
ORPHA:157965 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, Platyspondyly, Sco... |
OMIM:608940 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Mild pos... |
ORPHA:168549 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Lethargy, Cardiomegaly |
ORPHA:42 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom... |
OMIM:300280 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Dilated cardiomyopathy |
ORPHA:79230 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short stature, Short neck, Obesity, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:618395 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase... |
ORPHA:90041 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Rhizomelia, Short stature, Small for gestational age, Beaded ribs, Platys... |
OMIM:616229 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Short stature |
ORPHA:71267 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Ventricular septal defect, Small for gestational age, Short neck, Cardiom... |
OMIM:616897 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Irregular vertebral endplates,... |
OMIM:609616 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hypertrophic cardiomyopathy |
OMIM:619386 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly |
OMIM:184840 |
Thanatophoric Dysplasia, Type Ii |
|
Wide-cupped costochondral junctions, Platyspondyly, Short ribs, Neonatal death, Lethal short-limb... |
OMIM:187601 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebra... |
OMIM:610968 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Short stature |
ORPHA:250984 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Ventricular septal defect, Short stature, Short neck, Di... |
ORPHA:85194 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Severe short stature, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pl... |
OMIM:184250 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy |
OMIM:222748 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... |
OMIM:253000 |
Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Severe short stature |
ORPHA:2619 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Lethargy, Large for gestational age |
ORPHA:324575 |
Pyle Disease |
|
Platyspondyly, Scoliosis |
OMIM:265900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Disproportio... |
OMIM:271650 |
Bruck Syndrome 1 |
|
Short stature, Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis |
OMIM:259450 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Obesity, Irregular vertebral endplates, Platyspondyly... |
ORPHA:174 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal heart mo... |
OMIM:276950 |
Propionic Acidemia |
|
Hepatomegaly, Short stature, Cardiomyopathy, Lethargy, Failure to thrive |
OMIM:606054 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Short stature, Thoracic platyspondyly, Growth delay, Abnormal ... |
ORPHA:166011 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive, Short stature, Hepatosplenomegaly |
OMIM:611590 |
Dysosteosclerosis |
|
Ventricular septal defect, Short stature, Hypoplastic vertebral bodies, Irregular vertebral endpl... |
ORPHA:1782 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia |
OMIM:601438 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Dilated cardiomyopathy, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Hypoplastic vertebral bod... |
ORPHA:2347 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ... |
OMIM:156500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:255120 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Intrauterine growth retardation, H... |
OMIM:614702 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Short ribs, Beaking of vertebral bodies, ... |
OMIM:618961 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormality of the vertebral endplates, Platyspondyly, Disproportionate short stature, Ovoid vert... |
ORPHA:1856 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive |
ORPHA:349 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... |
ORPHA:2655 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Thin ribs, Platyspondyly, Intrauterine growth retard... |
OMIM:300863 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies... |
OMIM:230000 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Growth delay, Hepatomegaly, Lethargy |
ORPHA:289916 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... |
OMIM:612561 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... |
ORPHA:85451 |
Hypophosphatasia, Infantile |
|
Vertebral clefting, Platyspondyly, Stillbirth, Disproportionate short-limb short stature, Unossif... |
OMIM:241500 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Cuboid-shaped ... |
ORPHA:1517 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Stillbirth, Neonatal death, Lethargy |
OMIM:614922 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Weight loss, Cardiomegaly |
ORPHA:85447 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Abnormal rib... |
ORPHA:582 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Kyphosis, Splenomegaly, Growth delay, Delayed puberty, Abnorm... |
ORPHA:77259 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Lethargy, Hepatomegaly |
ORPHA:27 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco... |
ORPHA:1159 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:238970 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Lethargy |
OMIM:614299 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:201475 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Short stature, Scoliosis |
ORPHA:2771 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:616479 |
Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Anterior rib cupping, Short neck, Platyspondyly, Stillbirth, Disproportio... |
OMIM:269250 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Growth delay, Intrauterine growth retardation, Failure to thrive, Leth... |
ORPHA:79284 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
ORPHA:254361 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive, Short stature |
ORPHA:2089 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Weight loss, Cardiomyopathy, Apathy, Lethargy |
ORPHA:465508 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy |
ORPHA:156 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy |
OMIM:274400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Myofiber disarray |
OMIM:604377 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hypertension, Hyperuricemia |
ORPHA:77296 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:927 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Vertebral segmentation defect, Scoliosis, Abnormal heart morphology |
ORPHA:531151 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Failure to thrive, Lethargy, Hepatomegaly |
OMIM:251000 |
Thanatophoric Dysplasia, Type I |
|
Short neck, Wide-cupped costochondral junctions, Platyspondyly, Disproportionate short-limb short... |
OMIM:187600 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Platyspondyly, Thoracic kyphosis |
OMIM:619638 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Platyspondyly, Cervical sublu... |
OMIM:607095 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Abnormal heart ... |
OMIM:253220 |
Geroderma Osteodysplasticum |
|
Severe short stature, Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplat... |
OMIM:231070 |
Classic Galactosemia |
|
Hepatomegaly, Depression, Lethargy, Delayed puberty |
ORPHA:79239 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Pericardial effusion, Overwei... |
ORPHA:26793 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Short stature, Dextrocardia, Small for gestational age, Atrial septal defect, Letha... |
OMIM:277380 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Lethargy |
OMIM:616483 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia, Hepatosplenomegaly |
ORPHA:79237 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Kyphosis, Platyspondyly, Short stature |
ORPHA:93274 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Beaking o... |
OMIM:618641 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Smith-Mccort Dysplasia 1 |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Short neck, Wafer-thin platyspond... |
OMIM:151210 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Platyspondyly, Disproportionate short-limb short st... |
OMIM:608728 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Increased intervertebral spac... |
ORPHA:93314 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, Atrial septal defec... |
ORPHA:398069 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Hepatomegaly, Lethargy, Thin ribs |
OMIM:617397 |
Chondroectodermal Dysplasia With Night Blindness |
|
Platyspondyly, Short stature |
ORPHA:319195 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
OMIM:269920 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy... |
ORPHA:528 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Severe short stature, Scoliosis |
OMIM:126550 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri... |
OMIM:253250 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia, Epistaxis |
ORPHA:90042 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Beaded ribs, Thin ribs, Platyspondyly, Disproportionate short-limb sho... |
OMIM:166210 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Cervical kyphosis, Proportionate short stature, Postnatal growth retar... |
ORPHA:79345 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop... |
ORPHA:398124 |
Odontochondrodysplasia |
|
Platyspondyly, Short stature, Scoliosis |
ORPHA:166272 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Cervical instability, Abnormally ossified vertebrae, Abnormal vertebral morphology, Platyspondyly |
ORPHA:93346 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Dilated cardiomyopathy, Small for gestational age |
OMIM:609015 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumbar... |
OMIM:230600 |
Gaucher Disease, Type I |
|
Splenomegaly, Hepatomegaly, Aortic valve stenosis, Vertebral compression fracture |
OMIM:230800 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Lethargy, Weight loss |
ORPHA:79242 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Lethargy, Failure to thrive |
OMIM:605711 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Smith-Mccort Dysplasia 2 |
|
Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh... |
OMIM:615222 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Citrullinemia Type I |
|
Lethargy, Failure to thrive |
ORPHA:247525 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Intrauterine growth retardation, Lethargy |
ORPHA:765 |
Hall-Riggs Syndrome |
|
Platyspondyly, Failure to thrive, Short stature, Scoliosis |
ORPHA:2107 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Dilated cardiomyopathy, Intrauterine growth retardation, Hypertrophi... |
ORPHA:71212 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiomyopathy, Lethargy, Hepatomegaly |
OMIM:212138 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short stature, Kyphoscoliosis, Moderately short stature, Irregular vertebral endplates, Platyspon... |
OMIM:612350 |
Typhoid |
|
Splenomegaly, Hepatomegaly, Lethargy |
ORPHA:99745 |
Spondyloocular Syndrome |
|
Short stature, Mitral valve prolapse, Platyspondyly, Decreased body weight, Atrial septal defect,... |
OMIM:605822 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Necrotizing Enterocolitis |
|
Lethargy, Small for gestational age, Abnormal heart morphology |
ORPHA:391673 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Irregular sclerotic endplates, Platyspondyly, Flared, irregular rib ends, Pear-shaped... |
OMIM:602111 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Short stature, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of... |
ORPHA:354 |
Stickler Syndrome, Type I |
|
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... |
OMIM:108300 |
Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs |
OMIM:617952 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Platyspondyly, Short ribs |
OMIM:614524 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... |
ORPHA:79240 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Short stature, Coronal cleft vertebrae, Platyspondyly, Mesomelic short... |
OMIM:184260 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Disproportionate short-limb short stature |
ORPHA:93351 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short stature, Rhizomelia, Thin ribs, Platyspondyly, ... |
OMIM:613848 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Anterior rib cupping, Short neck, Thin ribs, Posterior rib cupping, Platyspondyly, St... |
OMIM:228520 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Thin ribs, Platyspondyly, Intrauterine growth retardation |
ORPHA:163966 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Ventricular septal defect, Large for gestational age, Postnatal growth... |
ORPHA:254534 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev... |
ORPHA:93672 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Splenomegaly, Lethargy, Failure to thrive |
OMIM:201100 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Disproportionate short-trunk shor... |
OMIM:184252 |
Mycetoma |
|
Back pain, Vertebral compression fracture, Abnormal form of the vertebral bodies |
ORPHA:2583 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
Cole-Carpenter Syndrome 1 |
|
Vertebral compression fracture, Short stature, Scoliosis |
OMIM:112240 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short... |
OMIM:620076 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, Broad ... |
OMIM:617022 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Scoliosis, Lethargy, Failure to thrive |
ORPHA:398079 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric... |
OMIM:610131 |
Ollier Disease |
|
Platyspondyly |
ORPHA:296 |
Scrub Typhus |
|
Splenomegaly, Myocarditis, Lethargy |
ORPHA:83317 |
Dyggve-Melchior-Clausen Disease |
|
Severe short stature, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Abnormality of ... |
ORPHA:239 |
Desbuquois Dysplasia 1 |
|
Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, Platyspondyly, ... |
OMIM:251450 |
Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility |
OMIM:208230 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Bic... |
OMIM:259770 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... |
ORPHA:412 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Spatulate ribs, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly... |
OMIM:177170 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the ver... |
ORPHA:93360 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Vertebral compression fracture, Cervical spinal canal stenosis |
OMIM:620232 |
Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Cardiomyopathy, Failure to thrive in infancy, Lethargy |
ORPHA:746 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Thin ribs, Platyspondyly |
OMIM:616294 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... |
OMIM:617052 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased body weight, Lethargy, Large for gestational age |
ORPHA:263455 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Anisospondyly |
ORPHA:163649 |
Bruck Syndrome 2 |
|
Platyspondyly, Short stature |
OMIM:609220 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Short stature, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft... |
OMIM:255800 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral... |
ORPHA:93315 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly |
OMIM:601356 |
Osteogenesis Imperfecta, Type Xvii |
|
Vertebral compression fracture, Short stature, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
Osteogenesis Imperfecta, Type Xx |
|
Intrauterine growth retardation, Vertebral compression fracture, Disproportionate short-limb shor... |
OMIM:618644 |
Renal Hypoplasia, Bilateral |
|
Short stature, Small for gestational age, Growth delay, Lethargy, Failure to thrive |
ORPHA:97362 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Disproportionate short stature, ... |
ORPHA:1427 |
Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Disproportionate short-limb short stature, Scoliosis |
OMIM:619131 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Failure to thrive, Le... |
ORPHA:2609 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect, Lethal short... |
ORPHA:1860 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy |
OMIM:618348 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney |
OMIM:608836 |
Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Kyphoscoliosis, Platyspondyly, Scoliosis, Decreased body weight |
OMIM:614856 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Flaring of lower rib cage, Short neck, Postnatal growth retardation, Hypopl... |
OMIM:223800 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Thin ribs, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebr... |
OMIM:610915 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Short stature, Coronal cleft vertebrae, Platyspondyly, Beaking of vertebral... |
OMIM:215150 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Cardiomegaly |
OMIM:620306 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Severe short stature, Kyphoscoliosis, Disproportionate short-trunk short stature, Platyspondyly, ... |
ORPHA:93316 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Lethargy, Overweight, Depression |
ORPHA:99832 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Vertebral compression fracture |
OMIM:602080 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Optic atrophy |
OMIM:619576 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... |
OMIM:300972 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Rhizomelia, Short neck |
OMIM:612813 |
Semilobar Holoprosencephaly |
|
Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ... |
ORPHA:220386 |
Kniest Dysplasia |
|
Short neck, Hypoplasia of the odontoid process, Disproportionate short stature, Disproportionate ... |
ORPHA:485 |
Alobar Holoprosencephaly |
|
Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Abnormal heart morphology, Growth delay, Depression, Apathy, Scoliosis, Lethargy, ... |
ORPHA:93924 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mitral valve prolapse, Lethargy, Failure to thrive, Right atrial enlargement |
OMIM:620233 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210200 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Severe short stature, Thoracolumbar kyphoscoliosis, Platyspondyly |
OMIM:618853 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodie... |
OMIM:102500 |
Sillence Syndrome |
|
Back pain, Slender build, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral... |
ORPHA:3168 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Disproportio... |
OMIM:242900 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Lethargy |
OMIM:201450 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Thin ribs, Lumbar hemivertebrae, Cardiomegaly |
ORPHA:2463 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Hepatosplenomeg... |
OMIM:614866 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Short stature, Small for gestational age, Short neck, Abnormal heart m... |
ORPHA:124 |
Saul-Wilson Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the odontoid process, Irregular verteb... |
OMIM:618150 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Hyperlordosis, Spinal rigidity, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Postnatal growth retardation, Anterior scalloping of vertebral bodies, Cuboid-shaped ... |
OMIM:611717 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Lethargy, Hepatomegaly |
ORPHA:159 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Small for gestational age, Short nec... |
ORPHA:1830 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... |
OMIM:616482 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Kniest Dysplasia |
|
Rhizomelia, Short neck, Disproportionate short-trunk short stature, Coronal cleft vertebrae, Plat... |
OMIM:156550 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Lethargy, Dilated cardiomyopathy |
OMIM:618321 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Dilated cardiomyopathy, Weight loss, Apathy, Lethargy |
ORPHA:20 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
11 pairs of ribs, Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Short neck, Mit... |
OMIM:245600 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t... |
OMIM:252500 |
Greenberg Dysplasia |
|
11 pairs of ribs, Hepatomegaly, Rhizomelia, Beaded ribs, Costal cartilage calcification, Punctate... |
OMIM:215140 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Apathy, Decreased body weight, Neon... |
OMIM:608013 |
Desbuquois Dysplasia 2 |
|
Severe short stature, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Truncal obe... |
OMIM:615777 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thoracic platyspondyly, Enla... |
OMIM:619636 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Dilated cardiomyopathy, Depression, Bradykinesia, Left ventricular hy... |
ORPHA:254892 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Medulloblastoma |
|
Back pain, Lethargy |
ORPHA:616 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, Platyspondyly, ... |
ORPHA:79255 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphoscoliosis, Platyspondyly |
OMIM:184253 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebr... |
OMIM:226980 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:251110 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Kyphoscoliosis, Mitral valve prolapse, Vertebral compression fracture, C1-C2 sublu... |
OMIM:259600 |
Dengue Fever |
|
Hepatomegaly, Lethargy |
ORPHA:99828 |
Atelosteogenesis Type I |
|
Rhizomelia, Coronal cleft vertebrae, Platyspondyly, Neonatal short-trunk short stature, Scoliosis... |
ORPHA:1190 |
Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Hypercholesterolemia, Papilledema, Rod-cone dystrophy |
OMIM:619471 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular ... |
ORPHA:261250 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hypertension, ... |
ORPHA:79259 |
Lowry-Wood Syndrome |
|
Platyspondyly, Short stature |
ORPHA:1824 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:275350 |
Familial Hypoaldosteronism |
|
Growth delay, Lethargy, Failure to thrive |
ORPHA:427 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Abnormal heart morphology, Growth delay, Intrauterine growth retardation,... |
ORPHA:79282 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syn... |
OMIM:127550 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Kyphoscoliosis, Cervical spine instability, Platyspondyly, Decreased body weight |
OMIM:615349 |
Dysosteosclerosis |
|
Increased intervertebral space, Disproportionate short stature, Hypoplastic vertebral bodies, Irr... |
OMIM:224300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Short stature, Kyphoscoliosis, Short neck, Scoliosis, Vertebral compression fracture |
OMIM:309583 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Disproportionate short-limb short stature |
ORPHA:85166 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Cervical instability, Thoracolumba... |
OMIM:617425 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Sh... |
ORPHA:457395 |
Czech Dysplasia |
|
Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis, Intervertebral space ... |
OMIM:609162 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad... |
ORPHA:90674 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short stature, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis |
OMIM:616723 |
Beck-Fahrner Syndrome |
|
Depression, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:99931 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Lethargy |
OMIM:229700 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Disproportionate short stature, Abnormal rib morphology, Rhizomelic arm shortening, ... |
ORPHA:93317 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... |
ORPHA:363618 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Short neck, Overweight, Growth delay, Lethargy, Decreased cervical spine mobi... |
ORPHA:226307 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Splenomegaly, Concentric hypertrophic cardiomyopathy, Growth delay, Lethargy, Hyper... |
OMIM:252010 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:251100 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Postnatal growth retardation, Intrauterine growth retardation, Platyspondyly, Scoliosis |
OMIM:612394 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Hydranencephaly |
|
Postnatal growth retardation, Intrauterine growth retardation, Dilatation of the ventricular cavi... |
ORPHA:2177 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Meningococcal Meningitis |
|
Lethargy |
ORPHA:33475 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Maple Syrup Urine Disease |
|
Lethargy |
OMIM:248600 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Short ribs, Vertebral wedging, Missing ribs |
OMIM:617866 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Failure to thrive, Rhizomelia, Kyphoscoliosis, Short neck, Post... |
ORPHA:263508 |
Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ve... |
ORPHA:79330 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Hypertension |
ORPHA:69663 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... |
OMIM:617713 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... |
OMIM:300967 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:215700 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Disproportion... |
OMIM:271510 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Kyphosc... |
OMIM:271640 |
Multiple Myeloma |
|
Splenomegaly, Vertebral compression fracture, Weight loss |
ORPHA:29073 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Multiple rib fractures, Short stature, Cervical kyphosis, Rhizom... |
ORPHA:666 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Rhizomelia, Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coron... |
OMIM:108720 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210210 |
Opsismodysplasia |
|
Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Hypoplastic ver... |
OMIM:258480 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Lumbar kyphosis in infancy, Neonatal short-limb short stature, ... |
OMIM:100800 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Postnatal growth retardation, ... |
ORPHA:536467 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Short stature, Small for gestational age, Short neck... |
OMIM:139210 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Failure to thrive, Weight loss |
ORPHA:199299 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis |
ORPHA:85167 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Obesity, Growth delay, Platyspondyly, Scoliosis |
OMIM:619269 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension |
OMIM:151660 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Lethargy |
OMIM:253260 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:395 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Increased intervertebral space, Irregular ve... |
OMIM:607944 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Optic atrophy |
OMIM:618590 |
Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy |
ORPHA:93110 |
Porphyria, Congenital Erythropoietic |
|
Splenomegaly, Hepatomegaly, Vertebral compression fracture, Short stature |
OMIM:263700 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:207900 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... |
ORPHA:500 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Scoliosis, Cardiomegaly |
OMIM:618143 |
Trisomy 20P |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... |
ORPHA:261318 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, H... |
ORPHA:391665 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Depression, Cardiomegaly |
OMIM:619259 |
Myhre Syndrome |
|
Severe short stature, Abnormal rib morphology, Platyspondyly, Abnormal cardiac septum morphology,... |
ORPHA:2588 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Rhizomelia, Short neck, Myocarditis, Cupped ribs, Disproportionate short statur... |
OMIM:250220 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Anemia, Hypokalemia, Hyperaldosteronism, Hy... |
ORPHA:534 |
Hereditary Fructose Intolerance |
|
Growth delay, Hepatomegaly, Lethargy |
ORPHA:469 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Failure to thrive |
OMIM:277400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Failure to thrive, Lethargy |
OMIM:617156 |
Glycerol Kinase Deficiency |
|
Growth delay, Lethargy, Short stature, Small for gestational age |
OMIM:307030 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:581 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Gro... |
OMIM:614921 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... |
OMIM:260400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency |
OMIM:619322 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Lethargy |
OMIM:557000 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:311250 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy |
OMIM:253270 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Congenital kyphoscoliosis, Abnormal heart valve morphology, Short st... |
ORPHA:536471 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:415 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Anterior rib cupping, Splenomegaly, Platyspondyly, Failure to thrive |
OMIM:102700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Hyperlordosis, Cardiomegaly, Scoliosis, Left ventricular hypertrophy, Hypertrophic ... |
ORPHA:365 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Failure to... |
ORPHA:308552 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Short stature, Disproportionate short-trunk short stature |
ORPHA:1855 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Short stature, Increased intervertebral space, Platyspondyly, Broad ribs |
OMIM:619727 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Short stature, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spin... |
ORPHA:800 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Platyspondyly, Short ribs, Atrial septal defect, Horizontal ribs |
OMIM:263520 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Rhizomelia, Short stature, Scoliosis, Vertebral compression fracture |
OMIM:610682 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Optic nerve hypoplasia, Right bundle branch block, Mitral regurgitation,... |
OMIM:617506 |
Kyphomelic Dysplasia |
|
Platyspondyly, Disproportionate short stature, Undulate ribs, Anterior rib cupping |
OMIM:211350 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Cholera |
|
Lethargy |
ORPHA:173 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
ORPHA:158687 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
Marburg Hemorrhagic Fever |
|
Back pain, Lethargy, Pericarditis |
ORPHA:99826 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Scoliosis, Cardiomegaly |
ORPHA:91387 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:118450 |
Trichinellosis |
|
Lethargy, Apathy |
ORPHA:863 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Lethargy |
ORPHA:68 |
Abetalipoproteinemia |
|
Hepatomegaly, Failure to thrive, Kyphoscoliosis, Cardiomegaly |
ORPHA:14 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Failure to thrive, Ventricular septal defect, Short neck, Muscular ventricular ... |
OMIM:210710 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, ... |
ORPHA:416 |
Cushing Disease |
|
Increased body weight, Depression, Truncal obesity, Abdominal obesity, Vertebral compression frac... |
ORPHA:96253 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Mitral valve ... |
OMIM:602782 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Short stature, Small for gestational age, Abnormal h... |
OMIM:612289 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Pig... |
OMIM:606721 |
Stickler Syndrome |
|
Short stature, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, ... |
ORPHA:828 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Short stature, Cardiomegaly |
OMIM:208000 |
Marshall Syndrome |
|
Platyspondyly, Short stature |
OMIM:154780 |
Biotinidase Deficiency |
|
Lethargy |
ORPHA:79241 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Splenomegaly, Cardiomyopathy, Polysplenia |
ORPHA:373 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Osteoglophonic Dysplasia |
|
Severe short stature, Rhizomelia, Short neck, Growth delay, Platyspondyly, Failure to thrive |
OMIM:166250 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Aspartylglucosaminuria |
|
Hepatomegaly, Short stature, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb... |
OMIM:208400 |
Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Neonatal short-limb short stature, Rhizomelia, Short ribs |
ORPHA:50945 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Short neck, Hepatosplenomegaly, Depression, Platyspondyly |
ORPHA:309282 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Aicardi-Goutières Syndrome |
|
Short stature, Cardiomegaly, Hepatosplenomegaly, Scoliosis, Hypertrophic cardiomyopathy |
ORPHA:51 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Intrauterine... |
ORPHA:96191 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morphology, Atrial... |
ORPHA:980 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Failure to thrive, Lethargy |
OMIM:229600 |
Bohring-Opitz Syndrome |
|
Short stature, Cardiomegaly, Abnormal cardiac septum morphology, Severe failure to thrive, Intrau... |
ORPHA:97297 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Atlantoaxial instability, P... |
OMIM:271665 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:228308 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short stature, Short neck, Irregular vertebral endplates, Platyspondyly, Posterior scalloping of ... |
OMIM:610442 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, Vertebral segmentatio... |
ORPHA:904 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Platyspondyly, Stillbirt... |
OMIM:304120 |
Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebra... |
ORPHA:93357 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
OMIM:618278 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Scoliosis, S... |
OMIM:182250 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Thin ribs |
OMIM:225400 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Occipital Horn Syndrome |
|
Growth delay, Kyphosis, Platyspondyly, Broad ribs |
OMIM:304150 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Lethargy |
OMIM:218700 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Weight loss, Depression |
ORPHA:652 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short stature, Short neck, Secundum atrial septal defect, Subarterial ventricular septal defect, ... |
ORPHA:99646 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Cardiomyopa... |
ORPHA:3472 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... |
OMIM:300106 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:617403 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Vertebral com... |
ORPHA:99889 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Severe short stature, Kyphosis, Growth delay, Platyspondyly, Abnormality of the vertebral column,... |
ORPHA:2273 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Atrial septal defect, Intrauterine growth r... |
OMIM:617190 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Myocar... |
ORPHA:51608 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Growth delay, Failure to thrive |
OMIM:256040 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy |
ORPHA:466650 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Obesity, Hypertrophic cardio... |
ORPHA:116 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy |
ORPHA:447 |
Pmm2-Cdg |
|
Pericarditis, Kyphoscoliosis, Pericardial effusion, Platyspondyly, Hypertrophic cardiomyopathy, F... |
ORPHA:79318 |