| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Lower limb spasticity, Supraventricular arrhythmia, Babinski sign, Optic atrophy, Abnormal pyrami... |
ORPHA:320360 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Somatic sensory dysfunction, Inability to walk, Intrinsic hand muscle atrophy, Cardiomyopathy, Pr... |
ORPHA:63273 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Abnormal ery... |
ORPHA:766 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Ataxia |
OMIM:208750 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... |
OMIM:601419 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Cardiomyopathy, D... |
OMIM:610100 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Paresthes... |
ORPHA:90064 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... |
ORPHA:822 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Dystonia, Ataxia, Spasticity, Gait ataxia, Gait disturbance, Difficulty wa... |
OMIM:614458 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopat... |
ORPHA:603 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Left ... |
OMIM:618228 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... |
ORPHA:401866 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Abnormal heart morphology, Aplasia... |
ORPHA:1067 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... |
OMIM:224120 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
| Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Thrombocytosis, Microcytic anemia, Abnorma... |
ORPHA:232 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Spasticity, Bradycardia, Dystonia, Hypertrophic cardiomyopathy |
OMIM:616277 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy, Slurred speech |
OMIM:618855 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyo... |
ORPHA:86812 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Unconjugated hyperbi... |
OMIM:300908 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Optic atrophy, Bradykinesia, T-wave inversion, Bradycar... |
ORPHA:228346 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor,... |
OMIM:611590 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
| X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Babinski sign, Slurred speech... |
ORPHA:93952 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Pa... |
ORPHA:49827 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor, Lethargy, Hypertrophic... |
OMIM:613561 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Cardiac arrest, Spasticity, Bradycardia, Hypertrophic cardiom... |
OMIM:618235 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Bradycardia, Dystonia, Left ventricular hypertrophy, Decreased level of coenzyme Q10 ... |
OMIM:614654 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, ... |
OMIM:619167 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia ... |
ORPHA:75564 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Spasticity, Bradycardia, Dystonia, Hypertrophi... |
OMIM:614702 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
| Developmental And Epileptic Encephalopathy 109 |
|
Delayed CNS myelination, Gait ataxia, Crouch gait, Myoclonus, Left ventricular hypertrophy, Spast... |
OMIM:620145 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Ataxia, Anemia |
ORPHA:2802 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Pallor |
ORPHA:79283 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice, Cutan... |
OMIM:618892 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia |
OMIM:619651 |
| Edinburgh Malformation Syndrome |
|
Death in infancy, Jaundice, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... |
ORPHA:35858 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Lethargy |
ORPHA:71277 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Inability to walk, Flexion contracture, Skel... |
OMIM:613156 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Miscarriage, Macrocytic anemia, Anisocytosis, Jau... |
ORPHA:71275 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abnormal lactate dehydrogenase level, Microangiopathic he... |
ORPHA:54057 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hypertrophic cardiomyopathy, Ataxia, Limb dystonia |
OMIM:620270 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abn... |
OMIM:614498 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Sple... |
ORPHA:79301 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
OMIM:300280 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... |
ORPHA:98870 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Lower limb spasticity, Somatic sensory dysfunction, Optic atrophy, Abnormal pyramid... |
ORPHA:1177 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Distal sensory i... |
ORPHA:399086 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Choreoathetosis, Cardiomyopathy, Neutropenia, Letha... |
ORPHA:79312 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor |
OMIM:618632 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... |
ORPHA:905 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Impaired temperature sensation, Impaired pain sensation, Spl... |
OMIM:205400 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy |
OMIM:617018 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... |
ORPHA:60041 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... |
ORPHA:254886 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... |
ORPHA:1330 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Optic at... |
OMIM:252011 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Choreoathetosis, Cardiomyopathy, Leuko... |
ORPHA:27 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Cardiomyopathy, Gai... |
OMIM:609286 |
| Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Myocardial infarction, Splenomegaly, Congestive heart failure, Ja... |
ORPHA:108 |
| Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ... |
OMIM:620265 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Increased circulating lactate dehydrogenase concen... |
ORPHA:824 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Delayed CNS myelination, Limb tremor |
OMIM:616647 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity |
ORPHA:2432 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... |
ORPHA:276435 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping |
OMIM:614369 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis, Pallor |
OMIM:607578 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis |
OMIM:300653 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... |
OMIM:613839 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Opisthotonus, Left ventricular hypertrophy, Internal hemorrhage, Right ven... |
ORPHA:335 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:28 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture, Peripheral demyelination |
OMIM:616733 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Depression, Hypertension, Cutaneous photosensi... |
OMIM:121300 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
| Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage... |
ORPHA:507 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... |
ORPHA:98911 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Decreased methionine synthase activity, Megaloblastic anemia, Gait disturbance... |
OMIM:236270 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, G... |
OMIM:618321 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Atrioventricular block, Bradycardia, Joint contracture of the 5th finger, Truncal ataxi... |
OMIM:614407 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Abnormality of ex... |
ORPHA:79262 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio... |
ORPHA:64743 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Chorea, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis, Anemia |
ORPHA:289916 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, Gait disturbance, Myo... |
OMIM:618241 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... |
OMIM:615418 |
| Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath... |
OMIM:617336 |
| Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Lethargy, Death in childhood |
OMIM:618224 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
| Relapsing Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Thrombocy... |
ORPHA:91547 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... |
ORPHA:101077 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Decreased liver function, Death in childhood... |
OMIM:246900 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
| Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Dystonia, CNS demyelination, H... |
OMIM:618237 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Inability to walk, Spastic paraplegia, Optic atrophy, Babinski sign... |
ORPHA:431329 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Anemia, Thro... |
ORPHA:858 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia |
OMIM:255100 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... |
ORPHA:163596 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Babinski sign, Optic atrophy, Unstea... |
OMIM:619259 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Ventricular septal defect, Spastic tetraplegia, Biventricular hypertrophy, Hypert... |
OMIM:615474 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Dystonia, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Di... |
ORPHA:324588 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... |
OMIM:620236 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... |
ORPHA:329478 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Diaphragmatic paralysis, Knee flexion... |
OMIM:612954 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
| Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
| Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... |
ORPHA:330001 |
| Lipoyltransferase 1 Deficiency |
|
Delayed CNS myelination, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Brad... |
OMIM:616299 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... |
OMIM:619424 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Babinski sign, Cardiomyopathy,... |
ORPHA:746 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Difficulty walking, Ab... |
ORPHA:401820 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Inability to walk, Hydrocephalus, Flexion contracture, Abnormal left ventricular fu... |
OMIM:613155 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphr... |
ORPHA:868 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Lethargy, Ataxia, Difficulty walking |
OMIM:617829 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Dystonia, Involuntary movements, Congestive heart failure, Chorea, Dilated cardio... |
OMIM:606703 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myopathy, Fasciculations, Difficult... |
OMIM:610717 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Micr... |
OMIM:274150 |
| Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... |
ORPHA:169186 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Sarcosinemia |
|
Peroneal muscle weakness, Ataxia, Optic atrophy, Tetraparesis, Pulmonic stenosis, Hypertrophic ca... |
ORPHA:3129 |
| Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Lethargy, Small for gestational age |
OMIM:617065 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
| Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Abetalipoproteinemia |
|
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Steppage gait, H... |
ORPHA:14 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk... |
ORPHA:99828 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Cardiomyopathy, Myopathy, Hypertonia, Dystonia |
ORPHA:26792 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Failure to thrive |
OMIM:230350 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
| Glut1 Deficiency Syndrome 1 |
|
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia |
OMIM:606777 |
| Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Jaundice, Hepatosplenomeg... |
ORPHA:79333 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Angina pectoris, Ataxia, Myocardial infarction, Tendon xanthomatosis, Babinski... |
OMIM:213700 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Apathy, Pallor, Ataxia |
ORPHA:71518 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Redundant neck skin, Small for gestational age, Neonatal death, Le... |
OMIM:610498 |
| Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Waddling gait, Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hyper... |
ORPHA:34515 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Leukodystrophy, Trun... |
OMIM:619051 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, Pallor, Neutropenia, Death in childhood, Lethargy, Hypop... |
OMIM:557000 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Distal sensory impairment, Cardiomyopathy, Global systolic dysfunction, Limb muscle weakness, Nem... |
OMIM:606842 |
| Erythrocytosis, Familial, 1 |
|
Plethora, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increas... |
OMIM:133100 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Death in infancy, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Cong... |
OMIM:615512 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Abnormal pyramidal sign, Cardiomyo... |
ORPHA:329336 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Impaired pain sensation |
OMIM:167400 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... |
ORPHA:171433 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
| Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Abnormal autonomic nervous... |
ORPHA:3299 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babins... |
ORPHA:95 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Delayed CNS myelination, Portal hypertension, Spastic tetraparesis, P... |
OMIM:619487 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor, Increas... |
ORPHA:90037 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... |
ORPHA:565624 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, High-output congestive hear... |
ORPHA:231226 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Inability ... |
ORPHA:268 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Distal sensory impairment |
OMIM:613710 |
| Aminoacylase 1 Deficiency |
|
Delayed CNS myelination, Bradycardia |
OMIM:609924 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Diffuse panc... |
ORPHA:276556 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis, Lower limb spasticity |
OMIM:615119 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Death in i... |
OMIM:614876 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spastic tetraple... |
OMIM:617710 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia,... |
OMIM:606054 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:615355 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Hurler Syndrome |
|
Hepatomegaly, Cerebral palsy, Abnormal heart valve morphology, Camptodactyly of finger, Angina pe... |
ORPHA:93473 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, N... |
OMIM:275350 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Gait disturbance, Death in childhood, Loss of ambulation, Lethargy, Failure to thrive, An... |
OMIM:615838 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Diffuse panc... |
ORPHA:276575 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Failure to th... |
ORPHA:2394 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Optic atrophy, Concentric hypertrophic cardiomyopathy, Abnormality of extrapyramida... |
OMIM:204200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Hydrocephalus, Spastic tetraplegia, Cardiomegaly |
OMIM:300886 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Thrombocytosis, Cardiac arrest, ... |
ORPHA:20 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... |
ORPHA:890 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Demyelinating motor neuropathy, Motor conducti... |
ORPHA:206594 |
| Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Failure to thrive in infancy, Deat... |
OMIM:619064 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... |
ORPHA:231214 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Letha... |
ORPHA:99745 |
| Maternally-Inherited Diabetes And Deafness |
|
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:225 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive he... |
ORPHA:52430 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Cardiac arrest |
OMIM:618951 |
| Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Dilated cardiomyopathy, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, I... |
OMIM:612937 |
| White Forelock With Malformations |
|
Atrial septal defect, White forelock, Poliosis |
OMIM:277740 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Pallor, Neu... |
ORPHA:101096 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality... |
ORPHA:317 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Death in infancy, Small f... |
OMIM:208085 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Spastic tetraparesis, Cardiomegaly, Poor coordination, Optic atrophy, Spastic diplegia,... |
ORPHA:391428 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Hypertonia, Left ventricular noncompaction, Ataxia |
OMIM:615917 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Card... |
OMIM:105210 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Acute myelo... |
OMIM:159550 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Prune1-Related Neurological Syndrome |
|
Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic atrophy, Tongue fasci... |
ORPHA:544469 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Ataxia, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Atrial ... |
OMIM:249270 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Diffuse panc... |
ORPHA:276580 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai... |
ORPHA:251282 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrh... |
OMIM:266500 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita... |
ORPHA:324575 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Dysmetria, Dysdiadochokinesis, Decreased liver functi... |
OMIM:238970 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Facial palsy, Frequent falls, Rigidity, Dilated cardiomyopathy, Limb muscle weakne... |
OMIM:161800 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... |
OMIM:610198 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Spasticity |
OMIM:618229 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Splenomegaly, ... |
ORPHA:90051 |
| Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hem... |
OMIM:263400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytos... |
OMIM:210250 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Ataxia, Pallor, Lethargy |
OMIM:500007 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa... |
ORPHA:70 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Increased body weight, Pancreatic islet-cell hyperplasia, Pallor, Lethargy |
ORPHA:276608 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Myoclonus, Bradycardia |
OMIM:619814 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level |
OMIM:274270 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Normochromic anemia, Lethargy, Neutropenia, Pulmonary art... |
OMIM:614857 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... |
ORPHA:1867 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
OMIM:170100 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
| Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Optic atrophy, Spasticity, Cardiomyopathy, Arrhythmia |
ORPHA:772 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... |
ORPHA:521411 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
| Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated sk... |
OMIM:620351 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Microvesicular ... |
OMIM:618278 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Freq... |
OMIM:300718 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination, Dilated cardiomyopathy, Ataxia, Spastic paraplegia |
OMIM:619688 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramid... |
ORPHA:79279 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairme... |
OMIM:618387 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Decreased number of peri... |
OMIM:302800 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... |
ORPHA:439 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide... |
ORPHA:79477 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy, Gen... |
ORPHA:93476 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,... |
ORPHA:353 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:619256 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Opt... |
ORPHA:1215 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
| Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... |
ORPHA:324 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Optic Atrophy 1 |
|
Ataxia, Pallor |
OMIM:165500 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Thrombocytopenia, Leukopenia, Prolonged prothrombin... |
OMIM:267700 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Spastic tetraplegia, Spasticity, Choreoathetosis, Hypertrophic cardiomyopathy |
OMIM:300438 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem... |
ORPHA:99931 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Thromb... |
OMIM:603553 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy, Lethargy |
ORPHA:254857 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Slurred speec... |
ORPHA:1349 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Hypertension, Ataxia |
ORPHA:3222 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni... |
OMIM:235400 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Pallor, Myeloid leukemia, Flushing, Hepatomegaly, Neutrophilia, Leukocytosis, ... |
ORPHA:98849 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Hydrocephalus, Muscular dystrophy |
OMIM:613153 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
| Dpm3-Cdg |
|
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... |
ORPHA:263494 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Ataxia, Exaggerated startle respo... |
OMIM:268800 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary t... |
ORPHA:1414 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618236 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Lethargy, Failure t... |
OMIM:251000 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Miscarriage, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Conjug... |
ORPHA:30391 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... |
OMIM:615352 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... |
ORPHA:101075 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Lethargy, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Ret... |
ORPHA:99826 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Congestive heart failure, Chorea, Inability to walk, Spasticity, Ab... |
ORPHA:70472 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Cutis marmorata, Epistaxis, Abnorma... |
ORPHA:33226 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... |
OMIM:619386 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
| Desminopathy |
|
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... |
ORPHA:98909 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... |
OMIM:310200 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy |
OMIM:309930 |
| Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98853 |
| Harel-Yoon Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, Spasticity, Distal amyotrophy, Dystonia, Hypertrophic c... |
OMIM:617183 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, Car... |
OMIM:256550 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Abnormal lactate dehydrogenase lev... |
ORPHA:42 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... |
ORPHA:216873 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
| Malaria |
|
Anemia, Thrombocytopenia, Gait imbalance, Hyperbilirubinemia |
ORPHA:673 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hypertension, Abnormality of the liver, Increased mean corpuscul... |
ORPHA:2169 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia, Lethargy, Prolonged neonatal jaundice |
ORPHA:95717 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Opti... |
OMIM:229300 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| D-Glyceric Aciduria |
|
Delayed CNS myelination, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Myoclonus, Br... |
OMIM:220120 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, ... |
OMIM:182410 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Anemia, Ch... |
ORPHA:540 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Apathy, Pallor, Death in childhood, Anemia |
OMIM:246450 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin |
ORPHA:90036 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal... |
ORPHA:324410 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Inability to walk, Hypertrophic cardiomyopathy |
OMIM:617184 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Optic atrophy, Gait ataxia,... |
OMIM:620089 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ... |
ORPHA:137898 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Ataxia, Pallor, Gait disturbance |
ORPHA:29822 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... |
ORPHA:1667 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypertension, Abnormal ... |
ORPHA:97229 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Congestive heart fai... |
OMIM:212140 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial h... |
OMIM:619272 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morphology |
ORPHA:577 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
| Galactosemia Iv |
|
Prolonged neonatal jaundice |
OMIM:618881 |
| Glycine Encephalopathy 1 |
|
Lethargy, Death in infancy |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Babinski sign, Optic atrophy, CNS hypomyelination, Cardiomyopathy, Spasticity |
OMIM:618437 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Rhabdoid Tumor |
|
Weight loss, Anemia, Hypertension, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Decreased methionine synthase activity, Megaloblastic anemia, Increased mean corp... |
OMIM:277410 |
| Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Jaw claudication, Vocal cord paralysis, Abnormal glossoph... |
ORPHA:221098 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Ataxia, Death in childhood |
OMIM:618225 |
| Glutamine Deficiency, Congenital |
|
CNS hypomyelination, Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ventricular septal ... |
ORPHA:290 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, In... |
OMIM:608885 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Bradycardia, ... |
OMIM:617397 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Dysmetria, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
| Galactosemia Ii |
|
Prolonged neonatal jaundice |
OMIM:230200 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98863 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Spasticity, Limb hyper... |
OMIM:619170 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
| Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Premature gr... |
ORPHA:381 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... |
ORPHA:86839 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Ataxia, Splenomegaly, Low alkaline phosphatase, Dry skin, Perior... |
OMIM:201100 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Optic atrophy, Elbow flexion contr... |
OMIM:619470 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Difficulty wa... |
ORPHA:119 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Optic atrophy, Spasticity, Abnormality of extrapyra... |
OMIM:614299 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Hepatic hemang... |
ORPHA:2330 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Death in ... |
OMIM:300972 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy |
ORPHA:98896 |
| Acquired Purpura Fulminans |
|
Shock, Hepatic failure, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time... |
ORPHA:49566 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrocephalus |
OMIM:269920 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tr... |
ORPHA:101078 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Leukocytosis, Weight loss, Hypertension, Apathy, Pallor, Hypotension, Throm... |
ORPHA:134 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Failure to thrive, Ataxia, Lethargy |
OMIM:618226 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Pallor, Flushing |
ORPHA:98820 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Optic atrophy, Spastic paraplegia, Tetraplegia, Arr... |
ORPHA:254913 |
| Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... |
ORPHA:98826 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
| Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hepatomegaly |
ORPHA:35 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Peritonitis, Leukocytosis, Schistocytosis, Hypertension, ... |
ORPHA:90038 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Unsteady gait |
OMIM:520000 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Spasticity |
ORPHA:67048 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... |
ORPHA:131 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Death in childhood |
OMIM:613163 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Splenomegaly, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, ... |
OMIM:300842 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia... |
ORPHA:319218 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Lethargy, Episodic ataxia, Small for gestational age |
OMIM:312170 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... |
OMIM:177850 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Flushing, Palpitations, Pallor, Posit... |
ORPHA:94080 |
| Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Failure to thrive in infancy, Cholestasis |
ORPHA:1296 |
| Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Jaundice, Abnormality of the liver... |
ORPHA:79320 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Vasculitis, Erythema... |
OMIM:225750 |
| Severe Canavan Disease |
|
Inability to walk, Lethargy |
ORPHA:314911 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice |
OMIM:262400 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... |
OMIM:202400 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:102 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Central Neurocytoma |
|
Pain insensitivity, Ataxia, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:612989 |
| Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Lethargy, Neutropenia, Decreased methylmalonyl-CoA ... |
OMIM:251110 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly |
OMIM:607685 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Jaund... |
ORPHA:525731 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Angina pectoris |
ORPHA:79292 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Dystonia, Ataxia, Acute rhabdomyolysis, Cardiac arrest, Clonus, Rhabdomyolysis, Ventricular tachy... |
OMIM:616878 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:617049 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension |
ORPHA:70587 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, He... |
OMIM:618549 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... |
ORPHA:401830 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Death in infancy, Failure to thrive, Conjugated hyperbilirubinemia... |
OMIM:617156 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Tetraplegia |
OMIM:610768 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy |
OMIM:232400 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Cyanosis, Methemoglobinemia |
ORPHA:621 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro... |
OMIM:616483 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Decreased ... |
OMIM:251290 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertension, Hypertonia, Gait disturbance, Abnormal mitral valve morphology |
ORPHA:1192 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty ... |
ORPHA:330050 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal... |
ORPHA:284 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... |
ORPHA:521406 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o... |
ORPHA:79230 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Neu... |
ORPHA:79284 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:613752 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... |
OMIM:618234 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Ataxia, Gait ataxia |
ORPHA:101150 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomeno... |
ORPHA:3260 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... |
ORPHA:65684 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:98933 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia... |
OMIM:616719 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Small for gestational age, Me... |
OMIM:277380 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Lethargy, Intrahepatic b... |
OMIM:614866 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Neoplasm of the pancreas, Somatic sensory dysfunction, Jaundice, Weight loss, ... |
ORPHA:370348 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Cerebral ischemia, Lethargy, Failure to thrive |
ORPHA:927 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
| Tempi Syndrome |
|
Facial erythema, Intracranial hemorrhage, Telangiectasia, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... |
OMIM:613313 |
| Leber Congenital Amaurosis 14 |
|
Falls, Pallor |
OMIM:613341 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myop... |
ORPHA:363400 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Splenic infarction, Leukocytosis, Hyperte... |
OMIM:603903 |
| Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Tachycardia, Jaundice, Hepatosplenomegaly, Chronic hepatitis, Elev... |
ORPHA:39812 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... |
OMIM:613327 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bleeding, ... |
ORPHA:167 |
| Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Inability to walk, Delayed myelination, Bilateral wrist flexion c... |
ORPHA:97297 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Increased bo... |
ORPHA:263455 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Rosaï-Dorfman Disease |
|
Erythema, Paresthesia, Anemia |
ORPHA:158014 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive, Death in childhood |
OMIM:611523 |
| Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Congestive heart... |
ORPHA:465508 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tachycardia, Tremor, Hypoesthesia, Hemiparesis, ... |
OMIM:619737 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Delayed CNS myelination, Tricuspid regurgitation, Bicuspid aortic valve, Ve... |
OMIM:620066 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Optic atrophy, Hepatosplenomegal... |
ORPHA:79330 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... |
ORPHA:254881 |
| Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Unsteady gait, Adducto... |
OMIM:210000 |
| Primary Lateral Sclerosis, Juvenile |
|
Loss of ambulation, Pallor, Spastic gait |
OMIM:606353 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... |
ORPHA:99014 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Citrullinemia Type I |
|
Lethargy, Failure to thrive, Hepatic failure, Ataxia |
ORPHA:247525 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Aplastic a... |
ORPHA:398124 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Abnormal heart... |
ORPHA:79264 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... |
ORPHA:370959 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Microvesicu... |
OMIM:613070 |
| Hemochromatosis, Neonatal |
|
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... |
OMIM:231100 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho... |
ORPHA:94093 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver |
ORPHA:205 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Bicuspid aortic valve, Mitral atresia, Ataxia, Tremor, Aortic valve atresia, Dysmetria,... |
OMIM:220111 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
| Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Prolonged neonatal jaundice |
ORPHA:446 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... |
OMIM:256810 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Conjugated h... |
OMIM:613404 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Hepatitis, Dry skin,... |
ORPHA:199299 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... |
ORPHA:169802 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Joubert Syndrome 32 |
|
Oculomotor apraxia, Hypertrophic cardiomyopathy, Ataxia |
OMIM:617757 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Basal ganglia gliosis, Myofiber disarray, Myopathy, Gliosis, Limb d... |
OMIM:604377 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Chorea, Depression, Bradykinesia, Choreoathetosis, Falls, Pallor |
ORPHA:13 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure |
OMIM:619355 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c... |
OMIM:614594 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hypertonia, Opisthotonus |
OMIM:616896 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hypertro... |
ORPHA:156 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Hepatomegaly |
OMIM:606069 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... |
OMIM:616564 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Unsteady gait, Limb at... |
OMIM:614871 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pu... |
ORPHA:555874 |
| O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice |
OMIM:618512 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Rift Valley Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Miscarriage, Hematemesis, Thrombocytopenia, Jau... |
ORPHA:319251 |
| Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, Ataxia, Poor coordination, Hypertension, Gait imbalance, Left ventricular ... |
OMIM:209900 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Dry skin, Sclerosing chol... |
OMIM:607626 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... |
OMIM:600363 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Cardiomyopathy, Stillbirth, Decreased liver function, Death in ch... |
OMIM:614922 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... |
OMIM:213200 |
| Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Severe photosen... |
ORPHA:79277 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Reduction of oligodendroglia, Writer's cramp, Ataxia, Cer... |
OMIM:312080 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Lethargy, Neutropenia, Decreased methylmalonyl-CoA ... |
OMIM:251100 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Weight loss, Depression |
ORPHA:178029 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Cerebellar gliosis, Flexion contracture, Optic atrophy, Babinski sign, Dysmetria,... |
OMIM:616505 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Dysmetria, Depression, Limb ataxia, Distal sensory impairment, Dysdiad... |
OMIM:617675 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Wolfram Syndrome 1 |
|
Tremor, Cardiomyopathy, Optic atrophy, Ataxia |
OMIM:222300 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... |
ORPHA:99827 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis |
OMIM:617408 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Fail... |
ORPHA:247598 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Flexion contracture, Babinski sign, Spasticity, Sinus bradycardia, Ankle c... |
OMIM:618397 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy, Ataxia |
OMIM:619046 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Bradycardia, Lethargy, Prolonged neonatal jaundice |
ORPHA:95716 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Flexion contracture, Retina... |
OMIM:614653 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
| Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ventricular septal defect, Clonus, Ataxia, Tremor, Splenomegaly, Chorea, Optic atro... |
OMIM:615673 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endo... |
OMIM:602541 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Parkinsonism, Tremor, Bradycardia |
ORPHA:83600 |
| Hydroxykynureninuria |
|
Jaundice |
OMIM:236800 |
| Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Angina pectoris, Myocardial infarction |
OMIM:176670 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Spasticity, Gait ataxia, Hypertrophic cardiomyopathy, Lowe... |
ORPHA:496790 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Gait disturbance |
OMIM:603896 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, Ataxia, Bone-marrow foam cells, Low cholesterol esterification ra... |
OMIM:607625 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
| Legionnaires Disease |
|
Pericarditis, Ataxia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Hypotension, Arrhythmia, Ly... |
ORPHA:549 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular fun... |
OMIM:607155 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Delayed CNS myelination, Broad-based gait, Reduced systolic function, Dilated cardi... |
OMIM:618805 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Gait disturbance |
ORPHA:2349 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Ventricular septal defect, Camptodactyly of finger, Ataxia, Tremor, Congest... |
ORPHA:354 |
| Tufted Angioma |
|
Petechiae, Thrombocytopenia, Paresthesia, Anemia, Purpura |
ORPHA:1063 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Cardiom... |
ORPHA:3386 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl... |
ORPHA:171 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Small for gestat... |
ORPHA:26793 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
| Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Chorea, Erythema, Gait disturbance, Pallor, Arrhythmia |
ORPHA:3099 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Rigidity, Splenomegaly, Tremor, Leukodystrophy, Dystonia, Loss of ambulation |
OMIM:615010 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa... |
ORPHA:275761 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facia... |
OMIM:619121 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation |
OMIM:617916 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Thrombocytosis, Small for gestational age, Pure red cell aplasia, Erythro... |
ORPHA:124 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Dravet Syndrome |
|
Bradykinesia, Progressive gait ataxia, Cyanotic episode, Pallor |
ORPHA:33069 |
| Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension |
ORPHA:320 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Ataxia, Failure to thrive in infancy, Choreoathetosis, Prolonged neona... |
ORPHA:59 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Dilated cardiomyopathy, Gait imbalance |
OMIM:618120 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy |
ORPHA:3173 |
| Alg3-Cdg |
|
Spastic tetraparesis, Macroglossia, Cardiomyopathy, Hypertonia, Neural tube defect, Dystonia, Art... |
ORPHA:79321 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Ataxia |
OMIM:614879 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Meningococcal Meningitis |
|
Shock, Paresthesia, Hypotension, Lethargy, Petechiae, Purpura |
ORPHA:33475 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... |
OMIM:612438 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly... |
ORPHA:168577 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Increased body weight, Paresthesia, Palpitations, Abno... |
ORPHA:97279 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Decreased number of large peripheral myelinated nerve fibers, Chorea, I... |
OMIM:208920 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Renal Hypoplasia, Bilateral |
|
Small for gestational age, Hypertension, Lethargy, Failure to thrive, Anemia |
ORPHA:97362 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... |
OMIM:607694 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomegaly, Optic atrophy, Telangiecta... |
OMIM:608799 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventric... |
OMIM:619148 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris |
ORPHA:140905 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia |
ORPHA:226313 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia |
OMIM:619099 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Susac Syndrome |
|
Lethargy, Somatic sensory dysfunction, Apathy, Gait ataxia |
ORPHA:838 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Sudden cardiac death, Hepatocellular necrosis, Periportal fibrosi... |
OMIM:201475 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... |
OMIM:215600 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... |
OMIM:212350 |
| Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| 4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
| Kearns-Sayre Syndrome |
|
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ventricular septal defect, Ata... |
OMIM:614947 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
| Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi... |
ORPHA:2131 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... |
OMIM:615438 |
| Dihydropyrimidinase Deficiency |
|
Lethargy, Reduced dihydropyrimidine dehydrogenase level |
OMIM:222748 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Hypercapnia, Tremor, D... |
OMIM:164310 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Sialidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
ORPHA:87876 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Decreased fumarate hydratase activity, In... |
OMIM:606812 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B... |
OMIM:615157 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Flexion contracture, Interphalange... |
OMIM:613870 |
| Hepatic Lipase Deficiency |
|
Angina pectoris |
OMIM:614025 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... |
OMIM:612840 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Pulmonary embolism, Megaloblastic anemia, Thrombocytopenia, Jaundice, Dilated cardiomyopa... |
ORPHA:79282 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, L... |
OMIM:600901 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Neonatal death, Pulmonary arterial hypertension, Failure to thrive, Lethargy |
OMIM:605711 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Tip-toe gait, Pallor, Poor wound healing |
ORPHA:536516 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Thrombocytopenia, Urt... |
OMIM:616050 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Cutaneous photosensitivity, Anemia |
OMIM:615715 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Premature skin wrinkling, Anemia |
ORPHA:101028 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Steppage gait, Decreased liver functio... |
OMIM:613280 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, G... |
ORPHA:572798 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio... |
OMIM:245600 |
| Refsum Disease |
|
Skeletal muscle atrophy, Ataxia, Heart block, Splenomegaly, Hemiplegia/hemiparesis, Abnormal pyra... |
ORPHA:773 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Optic atrophy, Myopathy, Dystonia, Arrhythmia |
OMIM:535000 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricular... |
ORPHA:229 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl... |
OMIM:613471 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Low cholesterol est... |
OMIM:257220 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Right ventricular dila... |
OMIM:619705 |
| Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Spasticity, Clonus, Tetraplegia, Cardiomegaly |
ORPHA:3137 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot... |
ORPHA:99829 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Aort... |
ORPHA:109 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Choreoathetosis, Lethargy |
OMIM:233910 |
| Sneddon Syndrome |
|
Tremor, Chorea, Intracranial hemorrhage, Hypertension, Hemiparesis |
ORPHA:820 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septa... |
ORPHA:466791 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... |
OMIM:229200 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Myoclonus, Dystonia, Hypertrophic ... |
OMIM:620167 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Leukocytosis, Leukopenia, Hypotension, Lethargy |
ORPHA:36238 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Co... |
OMIM:608779 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail... |
ORPHA:1194 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, L... |
OMIM:227650 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemia, Anemic pallor, Hematochezia |
ORPHA:329971 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Pyruvate Dehydrogenase Deficiency |
|
Choreoathetosis, Lethargy, Ataxia, Gait disturbance |
ORPHA:765 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... |
OMIM:619573 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Elevated circulating aspartate ami... |
OMIM:608836 |
| Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf... |
OMIM:277900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypercapnia, Ankle clonus, Gliosis, Falls, Difficulty walking, Dystonia, Hypertrophic cardiomyopathy |
OMIM:618222 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelin... |
ORPHA:255210 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Castleman Disease |
|
Jaundice, Weight loss, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thr... |
ORPHA:160 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Microcyti... |
ORPHA:90308 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Necrolytic migratory erythem... |
ORPHA:97280 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Ataxia, Thrombocytopenia, Hepatic failure, Dry skin, ST... |
ORPHA:466650 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Rig... |
ORPHA:100085 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia,... |
ORPHA:51 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Scrub Typhus |
|
Abnormal bleeding, Myocarditis, Splenomegaly, Hypotension, Lethargy |
ORPHA:83317 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Melas |
|
Wolff-Parkinson-White syndrome, Abnormal central motor function, Ataxia, Cardiac conduction abnor... |
ORPHA:550 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Pain insens... |
ORPHA:90062 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Abnormal heart morphology, Hepatosplenomegaly, Generaliz... |
ORPHA:93399 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Tendon xanthomato... |
ORPHA:391665 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia |
ORPHA:228305 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... |
OMIM:218000 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... |
ORPHA:280210 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Ataxia, Muscular ventricular septal defect, Dilated... |
ORPHA:66634 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:237300 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Corneal opacity, Elevated circulating creatine kinase concentration, Ventricular se... |
OMIM:301056 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Right hemiplegia, Loss of ambulation, Hypert... |
OMIM:607426 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Short Syndrome |
|
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... |
ORPHA:3163 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyopathy, Hypertonia, A... |
ORPHA:445038 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Dry skin, Depression, Bradycardia, Prolonged neonatal jaundice, Lethargy, Failure to thrive, Neon... |
ORPHA:90674 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... |
ORPHA:163934 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Astr... |
ORPHA:282166 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, CNS hypomyelinati... |
OMIM:614381 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Lower limb spasticity, Broad-based gait, Parkinsonism, Tremor, Congestive heart f... |
ORPHA:3077 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Death in infancy |
OMIM:614872 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Spastic tetraplegia, Delayed myelination |
OMIM:611719 |
| Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Dry skin, Prolonged neonatal jaundice |
ORPHA:95715 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
| Alpha-Mannosidosis |
|
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity |
ORPHA:61 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy, Dry skin |
OMIM:274400 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Delayed CNS myelination |
OMIM:600721 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Inability to w... |
ORPHA:26791 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... |
ORPHA:71212 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Joint contracture, Myoclonus, Leukodystrophy, Hypertrophic cardiomyopathy |
OMIM:614462 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Abnormally low ... |
ORPHA:276 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Rhabdomyolysis, Intracranial hemorrhage... |
ORPHA:449285 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Leukocytosis, Cholestasis, Pulmonary arterial hypertension... |
OMIM:620233 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Cyanosis, Mitral steno... |
ORPHA:740 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Delayed CNS myelination, Ataxia, Type 2 muscle fiber predominance, Chore... |
OMIM:615471 |
| Ogden Syndrome |
|
Cutis laxa, Shuffling gait, Cardiogenic shock, Arrhythmia, Lethargy |
ORPHA:276432 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Thyroid Hemiagenesis |
|
Jaundice |
ORPHA:95719 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Coars... |
ORPHA:585 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529799 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Inability to walk, ... |
OMIM:617013 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Flushing, Palpitations, Pallor, Posit... |
ORPHA:276621 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Depression, Prolonged neonatal jaundice, Lethargy, Dry skin |
ORPHA:99832 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Tendon xanthomatosis, Angina pectoris |
ORPHA:412 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... |
OMIM:615382 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Cardiomyopathy, Myopathy, Weakness of facia... |
OMIM:201470 |
| Medulloblastoma |
|
Elevated hepatic transaminase, Ataxia, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar a... |
ORPHA:616 |
| Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Spasticity... |
ORPHA:100 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Ventricular tachycardia, Cardiomyopathy, H... |
ORPHA:159 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean ... |
OMIM:222470 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
| Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
| Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Ba... |
OMIM:300055 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Depression, Recurrent pancr... |
ORPHA:444490 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity |
OMIM:616494 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alani... |
OMIM:311250 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Coarse hair, Nail dystroph... |
OMIM:158310 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Thick eyebrow |
OMIM:602562 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methionine synthase activity, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Decr... |
OMIM:277400 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, L... |
OMIM:227645 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... |
ORPHA:85443 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Inability to walk, Flexion contracture, Optic atrophy, Gait ataxia, Atrial septal d... |
OMIM:619383 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom... |
OMIM:614921 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Astr... |
ORPHA:258 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Hypoplasia of the thymus, Death in child... |
OMIM:214110 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Popliteal pterygium, Sparse or absent ey... |
ORPHA:1234 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
| Gaisböck Syndrome |
|
Plethora, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Increase... |
ORPHA:90041 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Skeletal musc... |
ORPHA:436271 |
| Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
| Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice |
OMIM:614972 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Erythema, Extrahepatic cholesta... |
ORPHA:97282 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary ci... |
ORPHA:186 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Lethargy, Failure to thrive |
ORPHA:2089 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensation, Impaired pain... |
OMIM:619574 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Involuntary move... |
ORPHA:506 |
| Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Jaundice, Skin ulcer, Cirrhosis, Generalized abnormalit... |
ORPHA:779 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity... |
ORPHA:845 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Ragged-red ... |
ORPHA:70595 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Monosomy 18Q |
|
Abnormal myelination, Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal... |
ORPHA:1600 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... |
ORPHA:348 |
| Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypo... |
ORPHA:31150 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Elevated circulating alkaline... |
ORPHA:521219 |
| Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Delayed CNS myelination, Absence of the pulmonary valve, Ventricular septal def... |
OMIM:601808 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait distu... |
ORPHA:457240 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Abnormal hea... |
ORPHA:93400 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired ... |
OMIM:606002 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Failure to thrive, Hep... |
ORPHA:415 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Exaggerated startle response, Hydrocephalus, Flexion cont... |
OMIM:253800 |
| Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness... |
OMIM:184850 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intrahepatic cholestasis, Ex... |
ORPHA:97283 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit... |
ORPHA:79432 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Delayed CNS myelination, Ataxia, Splenomegaly, Cardiomyopathy |
OMIM:616084 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Premature graying of hair, Excessive wrinkled skin, Anemia... |
ORPHA:3322 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:369 |
| Oculomaxillofacial Dysostosis |
|
Abnormal eyelash morphology, Sparse or absent eyelashes, Corneal opacity, Aplasia/Hypoplasia of t... |
ORPHA:1794 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson... |
OMIM:614298 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
| Maple Syrup Urine Disease |
|
Lethargy, Ataxia, Pancreatitis |
OMIM:248600 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... |
OMIM:232500 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Apolipoprotein A-I Deficiency |
|
Angina pectoris |
ORPHA:425 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
| Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Pallor, Neutropenia |
OMIM:609053 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Schistocytosis, Hyperbilirubinemia, Hypersegmentation of ... |
OMIM:601775 |
| Agel Amyloidosis |
|
Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfun... |
ORPHA:85448 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Lassa Fever |
|
Abnormal bleeding, Jaundice, Miscarriage, Shock |
ORPHA:99824 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
| Lead Poisoning |
|
Somatic sensory dysfunction, Miscarriage, Small for gestational age, Imbalanced hemoglobin synthe... |
ORPHA:330015 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Arthrogrypo... |
OMIM:607598 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ... |
ORPHA:99956 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertension, Hypertonia, Myoclonus, Hypot... |
ORPHA:43116 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis, Leukocytosi... |
ORPHA:2331 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Cardiomyopathy, Decreased liver function, Neonatal death, Anemia |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased liver function, Neonatal death, Hypertrophic cardiomyopathy, Anemia |
OMIM:618835 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Ataxia, Failure to thrive, Splenomegaly, Concentric hyp... |
OMIM:252010 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Obesity, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomegaly |
OMIM:616651 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy |
ORPHA:324525 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Lethargy, Decreased circulating biotinidase concentration |
OMIM:253260 |
| Isolated Complex I Deficiency |
|
Hepatomegaly, Optic disc pallor, Ataxia, Optic neuropathy, Leukodystrophy, Hypertrophic cardiomyo... |
ORPHA:2609 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... |
OMIM:230800 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
| Incontinentia Pigmenti |
|
Alopecia, Cataract, Corneal opacity, Abnormal fingernail morphology, Supernumerary nipple, Eosino... |
ORPHA:464 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyperbilirubi... |
OMIM:229600 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona... |
ORPHA:3427 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Optic atrophy, Increased intramyocellular lipid droplets, Truncal ataxia, W... |
OMIM:220110 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Hepatomegaly, Optic disc pallor, Demyelinating peripheral neuropathy, Sp... |
ORPHA:90324 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Flushing, Palpitations, Pallor, Posit... |
ORPHA:29072 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... |
ORPHA:508542 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, ... |
ORPHA:349 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Flexion contractur... |
ORPHA:505248 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to ... |
OMIM:618877 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Pallor, Facial erythema |
ORPHA:439218 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Tremor, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Intention tremor |
OMIM:614052 |
| Listeriosis |
|
Pericarditis, Liver abscess, Miscarriage, Ataxia, Somatic sensory dysfunction, Myocarditis, Conge... |
ORPHA:533 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Bradycardia, Lethargy, Prolonged neonatal jaundice |
ORPHA:90673 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Tremor, Slurr... |
ORPHA:812 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Congestive heart fail... |
ORPHA:48818 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:201450 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Ataxia, Optic neuropathy, Tremor, Rhabdomyolysis, Dilated cardiomyopathy, Concentri... |
OMIM:610505 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morph... |
ORPHA:228308 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities |
OMIM:620326 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest... |
OMIM:260400 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Delayed CNS myelination, Congestive heart failure, Splenomegaly, Flexion contractur... |
OMIM:617303 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Thrombocytopenia, Hyperlipidemia, Decreased proportion of... |
ORPHA:1830 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opaci... |
OMIM:256800 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Ataxia, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intram... |
ORPHA:98907 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Vocal cord paresis, Ataxia, Cardiomegaly, Splenomegaly, Hydrocephalus, Flexion cont... |
ORPHA:581 |
| Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Inability to walk, Lethargy, Chorea, Gait ataxia |
OMIM:607483 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... |
ORPHA:98908 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia,... |
OMIM:300967 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Hydrocephalus, Optic atr... |
ORPHA:579 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Prolonged neonatal jaundice |
OMIM:618868 |
| Adenohypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95512 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Hirsutism |
OMIM:607015 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, H... |
ORPHA:292 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal CNS myelination |
OMIM:619053 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
| Usher Syndrome |
|
Ataxia, Vestibular areflexia, Abnormal cardiovascular system physiology, Myopathy, Hypertrophic c... |
ORPHA:886 |
| Vici Syndrome |
|
Cardiomyopathy, Optic atrophy |
ORPHA:1493 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Lethargy, Failure to thrive |
ORPHA:427 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
| Lysinuric Protein Intolerance |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Thrombocytopen... |
ORPHA:470 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Gait disturbance, Lethargy, Failur... |
ORPHA:395 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Elevated hepa... |
OMIM:619991 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Developmental glaucoma, Generalized hypertrichosis, Megalocornea, Atrioventricul... |
ORPHA:2409 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ... |
ORPHA:2348 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Bab... |
OMIM:601992 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Thrombocytopenia |
OMIM:253270 |
| Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Skin ulcer, Lethargy, Arrhythmia, Increased red blood cell count |
ORPHA:68 |
| Ogden Syndrome |
|
Redundant neck skin, Prematurely aged appearance, Polycythemia, Facial wrinkling, Redundant skin,... |
OMIM:300855 |
| Zellweger Syndrome |
|
Hepatomegaly, Failure to thrive, Death in infancy, Jaundice, Hepatic failure |
ORPHA:912 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ataxia, Optic atrophy, Cardiomyopathy, Myopathy, Abnormal autonomic ... |
ORPHA:3463 |
| Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Cirrhosis, Lethargy, Failure to thrive |
OMIM:215700 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Mitral va... |
ORPHA:90354 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia... |
ORPHA:502423 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy, Abnormal myelination |
ORPHA:352682 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Jaundice, Hypertension, Elevated circulating alkaline phosphatase concentration, El... |
OMIM:613095 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu... |
ORPHA:79083 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Lethargy |
OMIM:210200 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Pyoderma gangrenosum, Erythema, Small vessel vasculitis, Anemia |
OMIM:608068 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... |
ORPHA:284984 |
| Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hy... |
ORPHA:3426 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Increased circulating farnesol concentration, Decreased LDL cholesterol co... |
OMIM:618156 |
| Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Hypertonia, Ventricular septal defect, Hydrocephalus |
OMIM:612938 |
| Cholera |
|
Tachycardia, Miscarriage, Hypovolemic shock, Hypotension, Palmoplantar cutis laxa, Lethargy |
ORPHA:173 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk... |
ORPHA:340 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Ataxia, Situs inversus totalis, Tremor, Hydrocephalus, Gait... |
ORPHA:475 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Leuk... |
OMIM:227646 |
| Panhypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95513 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Hypotension |
ORPHA:178509 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Choreoathetosis, Lethargy, Athetosis, Hypotension |
OMIM:608643 |
| African Trypanosomiasis |
|
Impaired proprioception, Choreoathetosis, Abnormal EKG, Hepatomegaly, Hepatosplenomegaly, Apathy,... |
ORPHA:3385 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Corneal opacity, Hypopigmented skin patches, Iris coloboma |
ORPHA:1647 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Delayed myelination, Muscular dystrophy, CNS hypomyelination |
ORPHA:88618 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Vocal cord par... |
ORPHA:397744 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hepatic fibr... |
OMIM:207900 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Pallor, Hypotension |
ORPHA:91349 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Ataxia, Tremor, Hydrocephalus, Gait disturban... |
ORPHA:220493 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re... |
OMIM:619127 |
| Alexander Disease |
|
Ataxia, Facial palsy, Sudden cardiac death, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, C... |
ORPHA:58 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Delayed CNS myelination, Multiple joint contractures, Ataxia, Cardiomegaly, Inabili... |
OMIM:618143 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Corneal opacity, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized ... |
ORPHA:79396 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal... |
OMIM:612289 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Ataxia, Pericardial effusion, Tremor, Flexion contracture, Dysmetria,... |
OMIM:212065 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity, Thick hair |
ORPHA:357058 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Jaundice, Bradycardia, Neutropenia, Neonatal death, Failure to thrive |
OMIM:617248 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:1842 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hepatosplenomegaly |
ORPHA:353298 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He... |
ORPHA:509 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Hypertension, Atrial septal defect, Left ventricular hypertrophy, Pat... |
OMIM:613610 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Cholelithiasis, Cutaneous photosensitivit... |
OMIM:263700 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Linear hyperpigmentation, Alopecia, Ventricular septal defect, Sclerocornea... |
OMIM:613001 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Abnormality of ex... |
ORPHA:79255 |
| Abcd Syndrome |
|
Neonatal death, Polycythemia, Large for gestational age |
OMIM:600501 |
| Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
ORPHA:93474 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... |
OMIM:618541 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Optic disc pallor, Abnormal myelination, Limb joint contracture, Facial hypotonia, ... |
ORPHA:404454 |
| Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Hepatosplen... |
OMIM:607014 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, Nail dysplasia, Iris coloboma |
ORPHA:139471 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Lethargy |
OMIM:229700 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Conjunctiva... |
ORPHA:2399 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo... |
ORPHA:466677 |
| Martsolf Syndrome 1 |
|
Cardiac arrest, Clonus, Congestive heart failure, Spastic diplegia, Cardiomyopathy |
OMIM:212720 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea,... |
OMIM:615356 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Jaundice, Failure to thrive, Prolonged neonatal jaundice |
OMIM:613038 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Bipolar affective disorder, Ataxia, Bone-marrow foam cells, Low cholesterol esterif... |
ORPHA:646 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Congestive heart failure, Flexion contracture, Opisthotonus, Choreoathetosis, Hyp... |
OMIM:616271 |
| Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... |
ORPHA:899 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations, Periodic paralysis |
OMIM:188580 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Unsteady gait, Prolonged neon... |
OMIM:214100 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, P... |
OMIM:208500 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... |
ORPHA:2388 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Generalized hirsutism |
ORPHA:2095 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Hypopigmentation of the skin, Alopecia, Corneal opacity |
OMIM:163200 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Pigmentary retinopathy, Frontal upsweep of hair, ... |
OMIM:612582 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Spastic tetraplegia, CNS hypomyeli... |
OMIM:230000 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Thoracic aortic aneurysm, Su... |
OMIM:613795 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sen... |
OMIM:616586 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... |
ORPHA:3453 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cutis marmorata, Ataxia, Portal hypert... |
OMIM:615688 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Short... |
ORPHA:79102 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:607143 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia |
ORPHA:157 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... |
ORPHA:25 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Neonat... |
OMIM:619534 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... |
OMIM:252500 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Spasticity |
OMIM:618810 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Obesity, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398079 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Aortic root aneurysm, Bradycardia, Pulmonary artery aneurysm, Pu... |
OMIM:614437 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:3384 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Prolonged neonatal jaundice |
OMIM:618828 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Delayed CNS myelination, Tremor, Babinski sign, Spasticity, Hypertonia, Hypertrophic cardiomyopathy |
OMIM:616539 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Broad-based gait, Ataxia, Overweight, Conges... |
OMIM:619475 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
| Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:84064 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Card... |
OMIM:253220 |
| Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Pancytopenia, Small for gestational age, Congenital hypoplastic anemia... |
OMIM:619488 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Tay-Sachs Disease |
|
Apathy, Pallor |
OMIM:272800 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Elevated ga... |
ORPHA:100086 |
| Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death in childhood, Failur... |
OMIM:616457 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukopeni... |
OMIM:127550 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ankle clonus, Restrictive cardiomyopathy, Babinski sign, Ataxia |
OMIM:615398 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Rhabdomyolysis, Ataxia, Tremor |
ORPHA:79095 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Primary Hyperoxaluria |
|
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... |
ORPHA:416 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
| Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst... |
OMIM:300894 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Acth Deficiency, Isolated |
|
Jaundice, Cholestasis |
OMIM:201400 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
| Cystinosis |
|
Hypokalemia, Corneal opacity, Hypophosphatemia |
ORPHA:213 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
| Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:5 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop... |
OMIM:615895 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Hypermelanotic macule, Thrombocytopenia, Fine hair, Abnormal T cell morphology, Coa... |
OMIM:242900 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne... |
OMIM:617052 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Bruising susceptibility, Anemia |
ORPHA:667 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Mi... |
OMIM:203700 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hepatomegaly, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly... |
ORPHA:17 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia |
OMIM:250790 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c... |
ORPHA:528 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Pancreatitis... |
ORPHA:544482 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615415 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Lower limb spasticity, Foot joint contracture,... |
ORPHA:90321 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Carney Complex, Type 1 |
|
Cardiac myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intrahepatic cholestasis, Ex... |
ORPHA:97278 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Cyanosis, C... |
ORPHA:31826 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Arteritis, Prolonged neonata... |
OMIM:233600 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Increased body weight, Abdominal obesity, Lethargy, Failure to th... |
ORPHA:398069 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Arthrogrypo... |
OMIM:608013 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Intestinal bleedi... |
OMIM:612199 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo... |
ORPHA:79086 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Jaundice |
OMIM:608093 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Cardiom... |
ORPHA:79430 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Flexion contracture, Macroglo... |
OMIM:253200 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Premature graying of hair, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Distal Deletion 12Q |
|
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale, Impair... |
ORPHA:96149 |
| Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cerebral dysmyelination, Abnormal pyramid... |
ORPHA:33364 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Papilledema, Abnormal heart valve morphology, Abnormal... |
ORPHA:580 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Corneal opacity, Dextrocardia, Abnormal heart valve morphology, Asplen... |
ORPHA:99776 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Ataxia, Portal hypertension, Tremor, Splenomegaly, Hydroce... |
ORPHA:1454 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Spasticity |
OMIM:618329 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Atrial septal defec... |
OMIM:620327 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Propionyl-CoA carboxylase deficiency, Lethargy, Failure to thrive |
OMIM:210210 |
| Brucellosis |
|
Liver abscess, Chorea, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Depressi... |
ORPHA:1304 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
| Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... |
ORPHA:3071 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
| Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... |
ORPHA:333 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Macroglossia, Bradycardia |
ORPHA:226307 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Jaundice, Lethargy, Chronic hepatic fai... |
ORPHA:469 |
| Childhood Absence Epilepsy |
|
Pallor, Depression |
ORPHA:64280 |
| Goodpasture Syndrome |
|
Cyanosis, Weight loss, Pallor, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
| Superficial Siderosis |
|
Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Impaired temperature sensation, Impaired pain... |
ORPHA:247245 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Pericardial effusion, Hematemesis, Spl... |
OMIM:615846 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:226316 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Corneal opacity, Hypocalcemia, Astigmatism |
ORPHA:2323 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
| Familial Dysautonomia |
|
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
| Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Ventricular septal defect, Ectopia lentis, Hypoplasia of the iris, Abn... |
ORPHA:2092 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Jaundice, Erythema, Extrahepatic cholestasis, Weight loss, Hematochezia |
ORPHA:913 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,... |
ORPHA:251071 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Chorea, Intracranial hemorrhage, Spontaneous hematomas, Prolonged ne... |
ORPHA:565 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
| Tyrosinemia Type 2 |
|
Corneal opacity, Abnormality of the nail |
ORPHA:28378 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
OMIM:272200 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... |
ORPHA:297 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight |
OMIM:619769 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... |
ORPHA:217085 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intrahepatic cholestasis, Ex... |
ORPHA:97261 |
| Tbck-Related Intellectual Disability Syndrome |
|
Thick eyebrow, Ventricular septal defect, Corneal opacity, Synophrys, Pulmonic stenosis, Abnormal... |
ORPHA:488632 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... |
ORPHA:217093 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
| Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked ... |
OMIM:216400 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Aortic valve stenosis, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Biotinidase Deficiency |
|
Lethargy, Decreased circulating biotinidase concentration, Ataxia |
ORPHA:79241 |
| Sotos Syndrome |
|
Increased body weight, Prolonged neonatal jaundice |
OMIM:117550 |
| Mercury Poisoning |
|
Tachycardia, Tremor, Hypertension, Hypotension, Dystonia |
ORPHA:330021 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... |
OMIM:187300 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ... |
OMIM:276700 |
| Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abn... |
ORPHA:95430 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h... |
ORPHA:920 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice |
OMIM:615751 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Abnormal cardiac septum morphology |
OMIM:217980 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Abnormal myelination |
ORPHA:289266 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Mitral valve prol... |
OMIM:259600 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma |
ORPHA:251038 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Hypotri... |
ORPHA:85167 |
| Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Tetralogy of Fallot, Fine hair, Acute leukemia, Trans... |
ORPHA:3474 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Dry skin, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Abnormal heart morp... |
OMIM:601499 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... |
OMIM:236670 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydrocephalus, Optic nerve dysplasia, Oculomotor apraxia, Hypertonia, Pulmonic sten... |
OMIM:115150 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Ataxia, Akinesia, Tremor, Inability to walk, Flexion contrac... |
ORPHA:86309 |
| Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Ataxia, Abnormality of coordination, ... |
ORPHA:79318 |
| Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Corneal opacity, Abnormal pericardium mor... |
ORPHA:355 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Opacification of the corneal stroma |
OMIM:601853 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Cardiomyopathy |
ORPHA:264580 |
| Trichinellosis |
|
Lethargy, Apathy, Retinal hemorrhage |
ORPHA:863 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a... |
OMIM:617403 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Heart block, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:175 |
| Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decre... |
OMIM:133540 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| De Barsy Syndrome |
|
Sparse hair, Ventricular septal defect, Cataract, Corneal opacity |
ORPHA:2962 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal circulating enzyme concentration or activity, Somatic sensory dysfunction, Prematurely a... |
ORPHA:909 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormality of the peripheral nervous system, Raynaud phenomenon, Cardiomyop... |
ORPHA:48435 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Fryns Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity, Tetralogy of Fallot, Hypoplastic fingernail |
ORPHA:2059 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, ... |
ORPHA:769 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, Tet... |
ORPHA:3338 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Cardiomyopathy, Aortic root aneurysm, Oculomoto... |
OMIM:135500 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes |
OMIM:615877 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Corneal opacity |
ORPHA:582 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Sclerocornea, Abnormal eyelash morphology, ... |
ORPHA:2556 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairli... |
ORPHA:495875 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
| Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Splenomegaly, Optic a... |
ORPHA:1328 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Acute l... |
ORPHA:1052 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosi... |
OMIM:274000 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Familial Glucocorticoid Deficiency |
|
Tetraplegia, Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Delayed CNS myelination, Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Spasticity, Gliosis, H... |
OMIM:124000 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Hydrocephalus, Optic atrophy, Pulmonic stenosis, Atrial septal d... |
ORPHA:1340 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Speech apraxia, Bicuspid aortic valve, Ventricular septal defect, Spina bifi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Speech apraxia, Bicuspid aortic valve, Ventricular septal defect, Spina bifi... |
ORPHA:363958 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot |
ORPHA:364577 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... |
ORPHA:91347 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... |
ORPHA:636 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Corneal opacity, Hypopigmented skin patches |
ORPHA:96061 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Dysmetria, Atrial septal defe... |
ORPHA:904 |
| Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal eyelash morphology, Tricuspid valve prolapse, Aortic valve st... |
ORPHA:2396 |
| Posterior Urethral Valve |
|
Hypertension, Lethargy |
ORPHA:93110 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Bicuspid aortic valve, Abnormality of hair texture, Abnormal ... |
ORPHA:96169 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Corneal opacity, Abnormal heart valve morphology, Posterior subcapsular catara... |
ORPHA:536471 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity, Sparse hair |
OMIM:601812 |
| Thyroid Hypoplasia |
|
Jaundice |
ORPHA:95720 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphol... |
ORPHA:534 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... |
OMIM:130650 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Microcornea, Transposition of the great arteries, Pulmonic stenosis, O... |
OMIM:201000 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Highly arched eyebrow, Hepatosplenomegaly, Astigmatism |
ORPHA:309282 |
| Semilobar Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Lethargy, Failure to thrive |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Lethargy, Failure to thrive |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Lethargy, Failure to thrive |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Inability to walk, Depression, Abnormal heart rate variability, Apathy, Lethargy, Failure to thrive |
ORPHA:93924 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
| Esophageal Atresia |
|
Pallor, Cyanosis, Small for gestational age, Failure to thrive in infancy |
ORPHA:1199 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Splenomegaly, Hypopigmented ... |
ORPHA:163746 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Jaundice, Failure to thrive |
ORPHA:90790 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Dry skin, Death in childhood, Hypertension, Stillbirth, Hyperbilirubinemia, Pro... |
OMIM:210710 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Supernumerary nipple, Hyperpigmented streaks, Microcornea, Astigmatism, Opa... |
OMIM:600268 |
| Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Shortened QT interval, Hematemesis, Insulinoma, Depression, Melena, Hyp... |
ORPHA:652 |
| Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma |
ORPHA:583 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Corneal opacity, Keratitis, Abnormal eyelash morpholog... |
ORPHA:2273 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Achalasia, Ineffective esophageal peristalsis, Difficulty walking, Sinus bradycardia |
OMIM:619482 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow |
OMIM:248340 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Hyperalanine... |
OMIM:615273 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination, Camptodactyly |
OMIM:617333 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Tremor, Delayed myelination, Choreoathetosis, Myoclonus, Dystonia, Epi... |
ORPHA:1934 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Telangiectasia, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation... |
OMIM:175050 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Neoplasm of the liver, Palpitations, Pallor, Hypertensive cr... |
ORPHA:653 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Double inlet left ventricle, Sparse hair, Atrial septal d... |
OMIM:619869 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive h... |
OMIM:182250 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Pulmonary arterial hypertension, Aplasia of the thymus, Unconjugated hyperbilirubinemia, Prolonge... |
OMIM:620186 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatocellular carcinoma, Cholestasis, Reduced ... |
OMIM:118450 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... |
OMIM:601104 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Lathosterolosis |
|
Hepatomegaly, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacifica... |
ORPHA:46059 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Corneal opacity, Astigmatism, Aortic valve stenosis, Breast hypoplasia |
ORPHA:464306 |
| Moebius Syndrome |
|
Multiple cafe-au-lait spots, Breast aplasia, Corneal opacity |
ORPHA:570 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Corneal opacity, Synophrys, Ventricular septal hypertrophy, Small nail... |
OMIM:608670 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Lethargy |
ORPHA:306674 |
| Hydranencephaly |
|
Lethargy, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464311 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Hydrocephalus, Mitral v... |
OMIM:218040 |
| Glycerol Kinase Deficiency |
|
Lethargy, Small for gestational age, Chronic pancreatitis |
OMIM:307030 |
| Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Corneal opacity, Short nail |
OMIM:150250 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Cataract, Sclerocornea |
OMIM:614230 |
| Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Mitral regurgitation, Prolonged neonatal jaundice, Pulmonary arterial ... |
ORPHA:363611 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral... |
ORPHA:363700 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renovascular hypertension, Cardiomyopathy... |
ORPHA:3472 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pancytopenia, Corneal opacity, Splenomegaly, Aortic valve calcificati... |
ORPHA:2072 |
| Occipital Horn Syndrome |
|
Jaundice, Bruising susceptibility, Hepatitis, Cholestasis |
ORPHA:198 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... |
ORPHA:373 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mo... |
OMIM:219800 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Cardiomegaly, Pericardial effusion,... |
ORPHA:51608 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... |
ORPHA:233 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal stroma, Small nai... |
OMIM:251300 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Jaundice, Obesity |
OMIM:614231 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:607721 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Popliteal pteryg... |
OMIM:263650 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Cataract, Ventricular septal defect, Corneal opacity, Abnormal locat... |
ORPHA:141099 |
| Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormality of skin pigmentation, Conjunctivitis, Abnormal toenail morphology, A... |
ORPHA:2908 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology |
ORPHA:369837 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... |
ORPHA:116 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Sclerocornea, Highly arched eyebrow, High anterior hairline, Low... |
ORPHA:280 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Corneal crystals |
OMIM:219900 |
| Limb Body Wall Complex |
|
Corneal opacity, Ventricular septal defect, Abnormal heart morphology, Lens subluxation, Atrial s... |
ORPHA:2369 |
| Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Ventricular septal defect, Sclerocornea, Abnormal eyelash mor... |
ORPHA:818 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Hypermelanotic macule, Keratitis, Hypopigmented ... |
ORPHA:910 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Delayed CNS myelination, Bicuspid aortic valve, ... |
OMIM:607872 |
| Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma |
OMIM:253000 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Patent foramen ovale, Abnormal heart morphology, Stellate iris, Hypopig... |
ORPHA:177907 |
| Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Raynaud phenomenon, Jaundice, Biliary atresia, Pulmonary arteri... |
ORPHA:3310 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth, Hepatomegaly |
OMIM:608594 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Aganglionic megacolon, Splenomegaly, Hydrocephalus, Hype... |
OMIM:270400 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diast... |
OMIM:312870 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Mosaic Trisomy 1 |
|
Small nail, Ventricular septal defect, Hypoplastic thumbnail, Opacification of the corneal stroma |
ORPHA:1692 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Situs inversus totalis, Asplenia, Microcornea, Aplasia/... |
ORPHA:564 |
| Hereditary Acrokeratotic Poikiloderma |
|
Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal st... |
ORPHA:2907 |
| Acromegaly |
|
Cerebral palsy, Macroglossia, Hypertension, Mitral regurgitation, Paresthesia, Hypertrophic cardi... |
ORPHA:963 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Bicuspid pulmonary valve, Microcornea, Abnormal cardiac septum morphol... |
ORPHA:709 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Extension of hair growth on temples to lateral... |
OMIM:219000 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Keratitis, Absent eyelashe... |
OMIM:308205 |
| Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal ... |
ORPHA:84 |
| Somatomammotropinoma |
|
Cerebral palsy, Macroglossia, Hypertension, Mitral regurgitation, Paresthesia, Hypertrophic cardi... |
ORPHA:314769 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hypertriglyceridemia, Corneal opacity, Cataract, Congenital malformation of th... |
ORPHA:3455 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert... |
OMIM:269700 |
| Thyroid Ectopia |
|
Jaundice |
ORPHA:95712 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Fryns Syndrome |
|
Ventricular septal defect, Stillbirth, Small nail, Opacification of the corneal stroma, Atrial se... |
OMIM:229850 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Corneal opacity, Thrombocytopenia, Mitral valve prolapse |
ORPHA:666 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Ventricular septal defect, Sclerocornea |
OMIM:206900 |
| Tuberous Sclerosis Complex |
|
Depression, Hypertension, Generalized abnormality of skin, Internal hemorrhage, Hepatic cysts, Ao... |
ORPHA:805 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Ventricular septal defect, Corneal opacity, Stillbirth, Sparse hair, ... |
OMIM:268300 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Blotching pigmentation of the skin, Opacification of the corneal stroma |
OMIM:601559 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
| Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Corneal opacity, Developmental cataract |
ORPHA:90348 |
| Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
| Leprechaunism |
|
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Hypertrophic cardiomyopathy, Enlarged ki... |
ORPHA:508 |
| 17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hyper... |
ORPHA:97685 |
| Digeorge Syndrome |
|
Ventricular septal defect, Sclerocornea, Splenomegaly, Thrombocytopenia, Tetralogy of Fallot, Hyp... |
OMIM:188400 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Difficulty walking |
ORPHA:480880 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Noonan Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:163950 |
| Sotos Syndrome |
|
Acute lymphoblastic leukemia, Prolonged neonatal jaundice, Aortic aneurysm, Flushing |
ORPHA:821 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Oculomotor apraxia, Abnormal myelination |
ORPHA:67045 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Dermal translucency, Telangiectasia of the skin, Transient ischemic attack, Pr... |
ORPHA:286 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Cataract, Ventricular septal defect, Absent nipple, Sclerocornea, Sparse eyela... |
OMIM:216340 |
| Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Abnormal myelination |
ORPHA:434179 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Inability to walk, Flexion contractur... |
OMIM:601803 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
