| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... |
ORPHA:171445 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... |
ORPHA:90039 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Finger flexor weakness, Cardiomyopathy, Hip flexor weakn... |
ORPHA:63273 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Leg muscle stiffness, Progressive spastic paraplegia, Cardiomyopathy, Difficulty walking, Impaire... |
ORPHA:320360 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... |
OMIM:615631 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Inability to walk, ... |
ORPHA:206546 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Reticulocytosis, Ataxia, Jaundice, Hemolytic anemia |
ORPHA:33574 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia |
ORPHA:46532 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Ataxia |
OMIM:208750 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Cardiomyopathy, Steppage gait, Impa... |
OMIM:610100 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Paresthesia, Supraventricular tachycardia, Leukocytosis, Abnormali... |
ORPHA:90064 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... |
OMIM:314050 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Optic atrophy, Spastic dysarthria, Leukodystrophy, Myoclonus, Babinski sign, Loss of ability to w... |
ORPHA:401866 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... |
OMIM:612201 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Spasticity, Episodic ataxia, Difficulty walking, Gait ataxia, Left ventricular hypertrophy, Lower... |
OMIM:614458 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Systolic heart murmur, Ao... |
ORPHA:3092 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy... |
OMIM:618228 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Leukocytosis, Pallor, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... |
OMIM:266200 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... |
OMIM:613876 |
| Evans Syndrome |
|
Epistaxis, Bruising susceptibility, Pallor, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syn... |
ORPHA:1959 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, H... |
ORPHA:1067 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Hemiparesis, Arrhythmia, Left ventr... |
OMIM:540000 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... |
OMIM:224120 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Spasticity, Spastic paraparesis, Distal amyotrophy, Skeleta... |
ORPHA:3208 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... |
ORPHA:42665 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy, Slurred speech |
OMIM:618855 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... |
OMIM:613874 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Increased circulating lactate de... |
OMIM:230450 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis |
OMIM:612126 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dystonia |
OMIM:616277 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly |
OMIM:312500 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... |
OMIM:300908 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... |
OMIM:235700 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... |
OMIM:224100 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Paresthesia, Pallor, Paroxysmal atrial tachycardia, Lethargy, Megalobla... |
ORPHA:49827 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hepatosplenomegaly, Pallor, Reticulocytosis, Lethargy, Decreased mean corpuscu... |
OMIM:611590 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... |
ORPHA:75564 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... |
OMIM:613561 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apr... |
ORPHA:93952 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... |
OMIM:619167 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Generalized dystonia, Hypertrophic cardiomyopathy, Bradycardia, Hepatomegaly, Cardiac... |
OMIM:618235 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Spasticity, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial ef... |
OMIM:614702 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Ataxia |
ORPHA:2802 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hypertonia, Bra... |
OMIM:614654 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... |
OMIM:185000 |
| Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Crouch gait, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Delayed CNS myelin... |
OMIM:620145 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy, Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Gait disturbance, Pallor, Failure to thrive |
ORPHA:79283 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep... |
OMIM:619048 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w... |
ORPHA:98912 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolo... |
OMIM:618892 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Tremor, Myoclonus, Cardiomyopathy |
OMIM:619651 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia |
OMIM:616276 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Optic Atrophy 2 |
|
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Abnormal bleeding, Failure to thrive, Hypersegmentation of neutrophil nuclei... |
ORPHA:35858 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... |
OMIM:608099 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Abnormal erythrocyte morphology, Cyanosis, Lethargy, Ataxia, Choreoathetosis |
ORPHA:71277 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive, Death in infancy |
OMIM:129850 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Increased total bil... |
OMIM:619868 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... |
ORPHA:79301 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy... |
ORPHA:71275 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Poor fine motor coordination, Bradycardia |
OMIM:617182 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenase concentration, Reti... |
ORPHA:54057 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Rigidity, Babinski sign, Delayed CNS myelination, Clonus, Limb hypertonia, Hyperto... |
OMIM:614498 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Inability to walk, Left ventricular systolic dysfunction, Left ventricular hy... |
OMIM:613156 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... |
ORPHA:846 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea... |
ORPHA:98870 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Skeletal muscle hypertrop... |
OMIM:300280 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... |
OMIM:115195 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Limb dystonia, Tremor, Ataxia |
OMIM:620270 |
| Fabry Disease |
|
Congestive heart failure, Fasciculations, Transient ischemic attack, Paresthesia, Angina pectoris... |
OMIM:301500 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Skin ulcer, Abnormal erythrocyte mor... |
ORPHA:288 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... |
OMIM:619040 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Cardiomyopathy, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocyt... |
ORPHA:79312 |
| Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Extramedullary hema... |
ORPHA:824 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Chorea, Death in childhood, Lethargy, Ataxia, Bradykinesia |
OMIM:618683 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... |
OMIM:232800 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced... |
ORPHA:444013 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Increa... |
ORPHA:232 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Spinocerebellar Ataxia 43 |
|
Distal amyotrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia |
OMIM:617018 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Usher Syndrome, Type 1M |
|
Optic disc pallor, Left ventricular hypertrophy |
OMIM:618632 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Depression, Hepatitis, Bruising suscepti... |
ORPHA:905 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Babesiosis |
|
Hepatic failure, Depression, Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia... |
ORPHA:108 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytop... |
ORPHA:27 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... |
OMIM:194380 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... |
ORPHA:330001 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... |
ORPHA:3093 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Shuffling gait, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Parest... |
ORPHA:254886 |
| Tangier Disease |
|
Distal amyotrophy, Impaired pain sensation, Impaired temperature sensation, Peripheral demyelinat... |
OMIM:205400 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular ... |
OMIM:252011 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... |
ORPHA:3203 |
| Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Sp... |
ORPHA:848 |
| Developmental And Epileptic Encephalopathy 35 |
|
Delayed CNS myelination, Limb tremor, Cardiomyopathy |
OMIM:616647 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Arr... |
OMIM:609286 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Corneal opacity |
ORPHA:2432 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... |
OMIM:613255 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal sensory impairment, Fiber type grouping, Tremor |
OMIM:614369 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... |
ORPHA:401840 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor, Cyanosis |
OMIM:607578 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... |
OMIM:613839 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... |
OMIM:265400 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior... |
OMIM:160500 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Lethargy, Failure to thrive |
ORPHA:28 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis, Ataxia |
OMIM:300653 |
| Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin ulcer, Pancytope... |
ORPHA:507 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Opisthotonus, Left ventricular hypertrophy, Internal hemorrhage, Tachycardia, Right ven... |
ORPHA:335 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... |
ORPHA:276435 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... |
OMIM:614561 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... |
OMIM:614065 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Hepa... |
ORPHA:294 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Failure to thrive, Decreased methionine synthase activity, Lethargy, Gait dist... |
OMIM:236270 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Peripheral demyelination, Hypertension, Flexion contracture |
OMIM:616733 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dilated cardiomyopathy, Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Left ventricular hy... |
OMIM:618321 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Difficulty walking, Multiple joint contractures, Abnormal musc... |
ORPHA:98911 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:231393 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular... |
OMIM:619566 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture |
OMIM:611105 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Steppage g... |
OMIM:600334 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia, Truncal ataxia, Dystoni... |
OMIM:614407 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Choreoathetosis |
ORPHA:289916 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Ataxia, Howell-Jolly bodies, Depression, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyp... |
OMIM:301310 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal heart morphology, Myoclonus, Tremor, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
| Coproporphyria, Hereditary |
|
Depression, Splenomegaly, Cutaneous photosensitivity, Jaundice, Hepatomegaly, Tachycardia, Hypert... |
OMIM:121300 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... |
OMIM:617336 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Inability to walk, Myoclonus, Rigidity, Loss of ambul... |
OMIM:618241 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... |
ORPHA:309169 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev... |
ORPHA:64743 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Spastic paraparesis, Distal amyotrophy, Somatic sensory ... |
ORPHA:101077 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul... |
ORPHA:91547 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Lethargy, Death in childhood, Ataxia |
OMIM:618224 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness,... |
OMIM:619903 |
| Crigler-Najjar Syndrome, Type Ii |
|
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... |
OMIM:606785 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... |
OMIM:609260 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... |
OMIM:613470 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly |
ORPHA:75563 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c... |
OMIM:246900 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Restrictive cardiomyopathy, Tip-toe gait, Lower limb muscle weakness, Hypertr... |
OMIM:612954 |
| Winchester Syndrome |
|
Hirsutism, Corneal opacity |
OMIM:277950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Myopathy, CNS demyelination, Dystonia, Flexion contra... |
OMIM:618237 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... |
OMIM:611880 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... |
OMIM:606685 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Limb muscle weakness, Myopathy, Arrhythmia, Ataxia, Hypomimic face, Bradykinesia,... |
ORPHA:254892 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice |
OMIM:603552 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Distal lower limb amyotrophy, A... |
ORPHA:431329 |
| Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatomega... |
ORPHA:858 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... |
OMIM:181350 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Mitr... |
OMIM:258450 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... |
OMIM:619402 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Limb muscle we... |
OMIM:619259 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pallor, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Perica... |
ORPHA:163596 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:301075 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo... |
ORPHA:324588 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... |
OMIM:619424 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Fa... |
OMIM:613812 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... |
OMIM:620236 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... |
OMIM:263300 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Abnormality of extrapyramidal motor function, Pulmonary arterial hypertensi... |
OMIM:616299 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Spasticity, Second degree atrioventricular block, Cerebral palsy, Biventricular hypertrophy, Pate... |
OMIM:615474 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal autonomic nervous syst... |
ORPHA:85447 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ... |
ORPHA:399103 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613122 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
ORPHA:171439 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... |
ORPHA:401820 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ... |
OMIM:606703 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Increased myocardial glycogen content, Ventricular fibrillat... |
OMIM:261740 |
| Developmental And Epileptic Encephalopathy 92 |
|
Difficulty walking, Lethargy, Inability to walk, Ataxia |
OMIM:617829 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Cardiomyopathy, Inability to walk, Calf muscle hypertrophy, Hydrocephalus, Ma... |
OMIM:613155 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscl... |
ORPHA:746 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... |
OMIM:605362 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Skeletal muscle atrophy, Diaphr... |
ORPHA:868 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:613286 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermittent jaundice,... |
ORPHA:3111 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Sarcosinemia |
|
Optic atrophy, Tetraparesis, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Ataxia, Pulmo... |
ORPHA:3129 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age, Choreoathetosis |
OMIM:617065 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Cardiomyopathy, Difficulty walking, Limb-girdle muscle weakness, Calf muscle ... |
OMIM:609308 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Depression, Abnormal ci... |
ORPHA:79239 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Schistocytosis, Th... |
OMIM:274150 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, ... |
ORPHA:96 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Cardiomyopathy, Myopathy, Hypertonia, Dystonia |
ORPHA:26792 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Abnormal heart valve morpholo... |
ORPHA:169186 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E... |
ORPHA:79333 |
| Abetalipoproteinemia |
|
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Positive Romberg sign, C... |
ORPHA:14 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... |
ORPHA:464343 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Apathy, Pallor, Ataxia |
ORPHA:71518 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated circulating hepatic transaminase concentration, Redundant neck skin, Neonatal death, Let... |
OMIM:610498 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Tendon xanthomatosis, Lower limb muscle weakness, Pseudobulbar paralysis, Difficulty ... |
OMIM:213700 |
| Glut1 Deficiency Syndrome 1 |
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Paroxysmal lethargy, Lethargy, Choreoathetosis, Ataxia |
OMIM:606777 |
| Galactosemia Iii |
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Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice |
OMIM:230350 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
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Bradycardia |
OMIM:619521 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
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Failure to thrive, Decreased methionine synthase activity, Lethargy, Gait disturbance, Megaloblas... |
OMIM:250940 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Leukodystrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Li... |
OMIM:619051 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... |
OMIM:608358 |
| Cardiac Diverticulum |
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Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... |
ORPHA:1686 |
| Methemoglobinemia, Beta Type |
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Methemoglobinemia, Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
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Methemoglobinemia, Cyanosis |
OMIM:617973 |
| Atrial Standstill 1 |
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Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Galactosialidosis |
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Corneal opacity |
ORPHA:351 |
| Crigler-Najjar Syndrome Type 1 |
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Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... |
ORPHA:79234 |
| Cardiomyopathy, Dilated, 2I |
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Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Bleeding Disorder, Platelet-Type, 19 |
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Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... |
OMIM:616176 |
| Pearson Marrow-Pancreas Syndrome |
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Erythema, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Death in childhood, Neutropenia... |
OMIM:557000 |
| Spinal Muscular Atrophy, Jokela Type |
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Skeletal muscle atrophy, Fasciculations, Difficulty walking, Distal sensory impairment, Tremor, S... |
OMIM:615048 |
| Carnitine-Acylcarnitine Translocase Deficiency |
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Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... |
OMIM:212138 |
| Paroxysmal Extreme Pain Disorder |
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Tachycardia, Impaired pain sensation, Bradycardia |
OMIM:167400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
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Hypertrophic cardiomyopathy, Lower limb spasticity, Gliosis, Cardiomyopathy |
OMIM:615119 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
| Dubin-Johnson Syndrome |
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Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
| Cataract 21, Multiple Types |
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Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
| Methylmalonic Acidemia With Homocystinuria |
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Lethargy, Gait disturbance, Failure to thrive |
ORPHA:26 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... |
OMIM:615234 |
| Erythrocytosis, Familial, 1 |
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Increased hematocrit, Splenomegaly, Increased red blood cell mass, Plethora, Increased circulatin... |
OMIM:133100 |
| Left Ventricular Noncompaction 10 |
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Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Crigler-Najjar Syndrome, Type I |
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Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Trimethylaminuria |
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Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Combined Oxidative Phosphorylation Deficiency 16 |
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Hypertrophic cardiomyopathy |
OMIM:615395 |
| Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Splenomegaly, Mac... |
OMIM:615512 |
| Deafness-Lymphedema-Leukemia Syndrome |
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Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Pallor, Weight loss, Thrombo... |
ORPHA:3226 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Nemaline bodies, Cardiomyopathy, Limb muscle weakness, Distal sensory impairment, Global systolic... |
OMIM:606842 |
| Heart-Hand Syndrome, Slovenian Type |
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Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
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Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Gait imbalance, Li... |
ORPHA:329336 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613252 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
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Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... |
OMIM:604286 |
| Friedreich Ataxia |
|
Optic atrophy, Spasticity, Falls, Decreased motor nerve conduction velocity, Cardiomyopathy, Inab... |
ORPHA:95 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Danon Disease |
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Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
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Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... |
ORPHA:860 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Mucous Membrane Pemphigoid |
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Corneal opacity |
ORPHA:46486 |
| Drug-Induced Autoimmune Hemolytic Anemia |
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Congestive heart failure, Increased total bilirubin, Pallor, Splenomegaly, Autoimmune hemolytic a... |
ORPHA:90037 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... |
ORPHA:263297 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... |
ORPHA:90065 |
| Tetanus |
|
Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Hypertonia, Bradycardia, Spasticit... |
ORPHA:3299 |
| Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
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Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Rh-Null, Amorph Type |
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Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Aminoacylase 1 Deficiency |
|
Delayed CNS myelination, Bradycardia |
OMIM:609924 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Difficulty walking, Inability to walk, Le... |
ORPHA:206559 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Skeletal muscle atrophy, Cardiomyopathy, Dysmetria, Tremor, Delayed CNS myelinatio... |
OMIM:617710 |
| Crigler-Najjar Syndrome Type 2 |
|
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Involuntary movements, Tip-toe gait, Decreased nerve conduction velocity, Leg dystonia, Ankle clo... |
ORPHA:565624 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia... |
OMIM:607317 |
| Hepatitis Delta |
|
Hepatic failure, Abnormal bleeding, Hepatitis, Bruising susceptibility, Elevated circulating aspa... |
ORPHA:402823 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... |
OMIM:602390 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... |
ORPHA:276556 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Lethargy, Distal sensory impairment |
OMIM:613710 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Death in i... |
OMIM:614876 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal amyotrophy, Fasciculations, Spinal muscular atrophy, Tremor, Loss of ambulation, Proximal ... |
OMIM:182980 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nuc... |
OMIM:266120 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Cerebellar hemorrhage, Lethargy, Thrombocytopenia, Reduced isovaleryl C... |
OMIM:243500 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... |
ORPHA:268 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Spasticity, Spastic tetraplegia, Lower limb hypertonia, Hepatosplenomegaly, Spasti... |
OMIM:619487 |
| Propionic Acidemia |
|
Failure to thrive, Cardiomyopathy, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hepatomega... |
OMIM:606054 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Card... |
ORPHA:2394 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Lethargy,... |
OMIM:275350 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi... |
OMIM:601706 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentrat... |
ORPHA:20 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Death in childhood, Loss of ambulation, Lethargy, Gait disturbance, Ataxia, An... |
OMIM:615838 |
| Hurler Syndrome |
|
Abnormal nerve conduction velocity, Spastic paraparesis, Cardiomyopathy, Cerebral palsy, Abnormal... |
ORPHA:93473 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... |
ORPHA:276575 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Lethargy, Ataxia, Hepatomegaly,... |
ORPHA:99745 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus, Spastic tetraplegia, Congestive heart failure |
OMIM:300886 |
| Prolidase Deficiency |
|
Failure to thrive, Skin ulcer, Elevated circulating aspartate aminotransferase concentration, Spl... |
OMIM:170100 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Death in c... |
OMIM:619064 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest |
OMIM:617713 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
