Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip... |
OMIM:232700 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:604213 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Increased variability in muscle fiber diameter |
OMIM:617915 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentrati... |
OMIM:615703 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Knee flexion contracture, Unilateral wrist flexion contracture, Cerebellar dysplasia, Cerebellar ... |
OMIM:616531 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... |
OMIM:616828 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar dysplasia, Flexion contracture, Cerebellar hypoplasia, Calf muscle hypertrophy, Facial... |
OMIM:613155 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Nemaline Myopathy 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers, Abnormal cerebellum morphology |
OMIM:618242 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Microvesi... |
OMIM:605814 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cyst, Hydrocephalus, ... |
OMIM:615181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Myopathy, Frontalis m... |
OMIM:300580 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... |
ORPHA:2169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Thrombocyto... |
OMIM:616050 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy |
OMIM:616471 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... |
OMIM:619461 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
Bilateral Frontoparietal Polymicrogyria |
|
Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum morphology, Cerebellar vermis h... |
ORPHA:101070 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300718 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized amyotrophy, Sec... |
OMIM:258450 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... |
OMIM:612937 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
Neuraminidase Deficiency |
|
Epiphyseal stippling, Inguinal hernia, Dysmetria, Cataract, Bone-marrow foam cells, Hepatomegaly,... |
OMIM:256550 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Increased muscle lipid conte... |
ORPHA:171439 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... |
OMIM:602771 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cyst, Hydrocephalus, ... |
OMIM:613153 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Cerebellar cortical atrophy, Centrally nucleated skeletal muscle fibers, Fai... |
OMIM:248800 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability, Impulsivity, Lethargy, Restlessness |
OMIM:605899 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, ... |
ORPHA:69663 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia, Ectopia lentis |
OMIM:238700 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Broad-based gait |
OMIM:619470 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Dandy-Walker malformation |
OMIM:617235 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Hypertriglyceridem... |
OMIM:278000 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability |
OMIM:234500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
Mulibrey Nanism |
|
Enamel hypoplasia, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Thick... |
OMIM:253250 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia |
OMIM:615960 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Cataract, Attention deficit hyperactivity disorder, Blue irid... |
OMIM:261600 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly, Hepatomegaly |
OMIM:609981 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Cerebellar dysplasia, Encephalocele, Cerebellar h... |
OMIM:613150 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Ataxia, Cataract, Arrhythmia,... |
OMIM:266500 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Cerebellar atrophy, ... |
OMIM:615084 |
Multiminicore Myopathy |
|
Congenital muscular dystrophy, Abnormal muscle fiber morphology, Failure to thrive, Myopathy, Min... |
ORPHA:598 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Cerebral vasculitis, Eosinophilia, Decreased proportion of CD4... |
OMIM:243700 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Cerebella... |
ORPHA:370022 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... |
ORPHA:276 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... |
ORPHA:3077 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Ocu... |
OMIM:608233 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... |
OMIM:617114 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Congenital diaphragmatic hern... |
DECIPHER:39 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... |
ORPHA:486815 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level |
OMIM:618858 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:613752 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:614096 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Facial telangiectasia, Developmental cataract, Contracture of... |
OMIM:620141 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Ataxia... |
ORPHA:221139 |
Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Cerebellar cyst, Hydrocephalu... |
OMIM:616538 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Increased variability in muscle fiber diameter, Myopathy |
OMIM:604377 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Depression, Progressive cerebellar ataxia, Irritability, Broa... |
ORPHA:248111 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Hsd10 Disease, Infantile Type |
|
Paroxysmal bursts of laughter, Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Choreoath... |
ORPHA:391428 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Reduced C-peptide level |
OMIM:610582 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait ataxia, Optic atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Congestive hea... |
OMIM:619259 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Cerebellar hypoplasia, Increased intramyocellular... |
ORPHA:502423 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... |
ORPHA:85451 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Iris hypopigmentation, Happy demeanor, Ataxia, Inappropriate laughter, Polyphagia,... |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Leth... |
ORPHA:1329 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, ... |
OMIM:252920 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Congenital Toxoplasmosis |
|
Anemia, Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... |
ORPHA:596 |
Cog4-Cdg |
|
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolemia, Fatal liver f... |
ORPHA:263501 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Osteopenia, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenom... |
OMIM:269920 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Abnormal cerebellar cortex morphology, Ragged-red... |
ORPHA:70595 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Astigmatism, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Hemochromatosis Type 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Optic Atrophy 11 |
|
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping, Cerebellar ... |
OMIM:617302 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Attention defic... |
ORPHA:98818 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hepatosplenomegaly, Hepatomegaly, Hyp... |
ORPHA:79237 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Ske... |
OMIM:616867 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... |
ORPHA:52430 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Increased LDL cholesterol concentrat... |
ORPHA:412 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Oligomenorrhea, Abnormality of skeletal muscle fiber size, Calf muscle pseu... |
ORPHA:79083 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn... |
ORPHA:1145 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... |
ORPHA:567548 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Secondary amenorrhea, Premature o... |
OMIM:157640 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis |
ORPHA:382 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Unsteady gait, Self-mutilation |
OMIM:615516 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy |
OMIM:619026 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick ... |
OMIM:617182 |
Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum iron |
OMIM:613313 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Optic atrophy, Hepatomegaly, Dysphagia, Splenomegaly, Reduced bone mineral d... |
ORPHA:581 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Pancytopenia |
OMIM:620133 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula... |
ORPHA:370 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating alpha-f... |
ORPHA:64753 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Lethargy, Hepatomegaly |
OMIM:619064 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypert... |
ORPHA:2348 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Contractures of the large joints, Inability to walk, Abnormal atrioventricular valve morphology, ... |
ORPHA:324410 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Neutropenia in presence of anti-neutropil antibodies, Congestiv... |
ORPHA:525731 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Congenital Generalized Lipodystrophy |
|
Cirrhosis, Increased C-peptide level, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hype... |
ORPHA:528 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Cardiomegaly, Lethargy |
OMIM:600649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Cerebellar hypoplasia, Muscular dystrophy, Hydrocephalus, Hypoplasia of the ... |
OMIM:613154 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Cerebellar h... |
OMIM:617751 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Hypertroph... |
OMIM:619051 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... |
ORPHA:171881 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
ORPHA:171436 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... |
ORPHA:119 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation, Hepa... |
OMIM:212140 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
47,Xyy Syndrome |
|
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Azoospermia, Oligosperm... |
ORPHA:8 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Overweight |
ORPHA:457240 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis... |
ORPHA:264580 |
Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Hydrocephalus, Macroglossia |
ORPHA:65285 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Abnormal B cell... |
ORPHA:331206 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Osteoporosis, Hepatomegaly, Arrhythmia, Cardiomegaly, S... |
OMIM:235200 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Megalocornea, Ventricular septal defect,... |
ORPHA:137675 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Elevated jugular venous pressure, Apathy, Congestive heart failure, Osteoporosis, Hepatomegaly, A... |
ORPHA:465508 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:79240 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy, Hernia, Asymmetric septal hypertrophy, Dense calvaria, Hepatom... |
OMIM:252930 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Inability to walk, Retinal degeneration, Gait disturbance, At... |
ORPHA:168491 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Exocrin... |
OMIM:300972 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Ataxia, Hepatomegaly, Arrhythmia, Cardiomegaly, Lethargy |
ORPHA:42 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Emotional lability, Keratitis, Opacification of the corneal stro... |
OMIM:256800 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, T lymphocytopenia, Pancytopenia... |
ORPHA:79124 |
Permanent Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226292 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... |
OMIM:616866 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Amyloid deposition in the vitreous humor, A... |
OMIM:105210 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Sickle Cell Disease |
|
Retinopathy, Hemolytic anemia, Target cells, Splenic infarction, Hypertension, Increased red cell... |
OMIM:603903 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Hernia,... |
ORPHA:363705 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... |
OMIM:261740 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Depression, Anxiety, Cardiom... |
OMIM:618798 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Abetalipoproteinemia |
|
Gait ataxia, Anemia, Rod-cone dystrophy, Keratoconjunctivitis sicca, Congestive heart failure, At... |
ORPHA:14 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Eisenmenger Syndrome |
|
Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ... |
ORPHA:97214 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cataract |
ORPHA:3137 |
Mucopolysaccharidosis Type 2 |
|
Retinopathy, Optic atrophy, Hepatomegaly, Papilledema, Splenomegaly, Flexion contracture of digit... |
ORPHA:580 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Cardiomega... |
OMIM:239850 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon |
OMIM:601374 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Optic atrophy, Op... |
ORPHA:72 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... |
OMIM:612949 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neu... |
ORPHA:158061 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Attention deficit hyperactivity disorder, Anxiety, Pulmonic stenosis |
OMIM:617600 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Osteomalacia, Va... |
OMIM:619381 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Lethargy, Hepatomegaly, Arrhythmia |
OMIM:255120 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Asymmetric septal hypertrophy, Dense calvaria, Inguinal hernia, Hepatomegaly, Sple... |
OMIM:252900 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Cerebral hemorrhage, Hypertension, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... |
OMIM:618652 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Opacification of the corneal stroma, Pancytopenia, Hepatomegaly, C... |
OMIM:231005 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, He... |
OMIM:201475 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hyperactivity, Acute myeloid leukemia, Hernia, Retinal dystrophy, Pancytopenia... |
OMIM:617052 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anem... |
ORPHA:99931 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... |
OMIM:255125 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Tip-toe gait, Inability to walk, Abnormal EKG, Reduced left ventricula... |
ORPHA:268 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Inability to walk, Truncal atax... |
OMIM:620066 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Ataxia, Pancytop... |
ORPHA:158048 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:615595 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Mitral valve prolapse, Hypertension,... |
ORPHA:449291 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Emotional lability, Dysmetria, Imp... |
OMIM:610217 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Ventricular septal defect, Hypertrophic cardiomyopathy, Decreased skull ossi... |
OMIM:616897 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypona... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatic steatosis, Acute pancreatitis, Decreased HDL cholesterol concentration, Hepatomegaly, Hyp... |
OMIM:151660 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Akinesia, Apathy, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Hepatomegaly, D... |
OMIM:608013 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Corneal arcus, Facial telangiectasia, V... |
OMIM:602782 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Enlarged kidney, Elbow flexion cont... |
OMIM:608836 |
Fucosidosis |
|
Cardiomegaly, Lipoatrophy, Corneal opacity, Hepatomegaly |
ORPHA:349 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Inability to walk, Inappropriate crying, Gait disturbance, Ataxia, I... |
OMIM:618143 |
Sandhoff Disease |
|
Ataxia, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Cherry red spot ... |
OMIM:268800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
Fucosidosis |
|
Flexion contracture, Hernia, Spastic gait, Tortuosity of conjunctival vessels, Hepatomegaly, Card... |
OMIM:230000 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
Meningococcal Meningitis |
|
Hypothermia, Fever |
ORPHA:33475 |
Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Tip-toe gait, Heart murmur, Enlarged kidney, Camptodactyly, Congestive heart failur... |
OMIM:252500 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Auto... |
ORPHA:760 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Ischemic stroke, Hypovolemia, Transient ischemic attack, Bicusp... |
ORPHA:91387 |
Myopathy, Mitochondrial, And Ataxia |
|
Distal amyotrophy, Increased variability in muscle fiber diameter, Primary amenorrhea |
OMIM:617675 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Weight loss, Autophagic vacuoles, EMG: myopathic ... |
OMIM:164310 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... |
ORPHA:470 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Cardiomegaly, Hypertension |
OMIM:613320 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Abnormality of temperature regulation, Hypothermia, Fever |
OMIM:618493 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Pancreatitis, Hypercholesterolemia |
OMIM:619471 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
ChƩdiak-Higashi Syndrome |
|
Anemia, Neutropenia, Inability to walk, Pericardial effusion, Iris hypopigmentation, Gait disturb... |
ORPHA:167 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia |
ORPHA:159 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Native American Myopathy |
|
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Skeletal muscle a... |
ORPHA:168572 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Flexion contracture, Inability to walk, Heart murmur,... |
ORPHA:365 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cerebellar dysplasia, Cerebellar hypoplasia, Congenital muscular dystrophy, Hydrocephalus, Cerebe... |
OMIM:236670 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, D... |
OMIM:232300 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Right atrial ... |
OMIM:306955 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis, Hyperactivity, Akinesia, Optic atrophy, Retinal degeneration, Choreoathetosis, Ga... |
OMIM:234200 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Elbow flexion contracture, Le... |
OMIM:245600 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Hypertrop... |
ORPHA:308552 |
Congenital Enterovirus Infection |
|
Hypothermia, Fever |
ORPHA:292 |
Mogs-Cdg |
|
Optic atrophy, Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomega... |
ORPHA:79330 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Myocardial infarction, Hypophosph... |
OMIM:208000 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemi... |
ORPHA:90674 |
Gaisbƶck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Cholecystitis, Hypercholesterolemia, Hyperprote... |
ORPHA:90041 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function |
ORPHA:229 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia |
ORPHA:363618 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal bone ossification, Mucosal telangiectasiae, Osteopenia, Cardiomegaly, Loss of truncal su... |
ORPHA:2463 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Inability to walk, Optic atrophy, Retinal atrophy, Happy deme... |
ORPHA:97297 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic st... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia |
OMIM:248370 |
Lead Poisoning |
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Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
CantĆŗ Syndrome |
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Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly, Abnormal heart valve morphology, Umbilic... |
ORPHA:1517 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Williams Syndrome |
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Sudden cardiac death, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the iris, Increas... |
ORPHA:904 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Increased in... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly, Anemia |
OMIM:618838 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Thymoma |
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Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Bilateral Perisylvian Polymicrogyria |
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Distal arthrogryposis, Cerebellar dysplasia, Flexion contracture, Limb hypertonia, Abnormality of... |
ORPHA:98889 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Hypothermia |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type It |
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Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... |
OMIM:614921 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Conjunctivitis, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Adipose ... |
OMIM:256040 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Genetic Transient Congenital Hypothyroidism |
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Hypothermia |
ORPHA:226316 |
Oculoectodermal Syndrome |
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Hyperactivity, Transient ischemic attack, Limbal dermoid, Atrial septal defect, Microcornea, Hype... |
OMIM:600268 |
Lethal Congenital Contracture Syndrome 10 |
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Increased variability in muscle fiber diameter, Torticollis, Macroglossia |
OMIM:617022 |
Ogden Syndrome |
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Torsade de pointes, Minimal subcutaneous fat, Secundum atrial septal defect, Premature atrial con... |
OMIM:300855 |
Alagille Syndrome 1 |
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Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb... |
OMIM:118450 |
Tuberous Sclerosis Complex |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Cardiac rhabdomyoma, Retinal hamarto... |
ORPHA:805 |
Congenital Hypothyroidism |
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Hypothermia |
ORPHA:442 |
Lethal Acantholytic Erosive Disorder |
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Impaired myocardial contractility, Camptodactyly of toe, Hypovolemic shock, Cardiomegaly, Cardiom... |
ORPHA:158687 |
Aicardi-GoutiĆØres Syndrome |
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Lipoatrophy, Multiple joint contractures, Chronic lymphatic leukemia, Raynaud phenomenon, Hepatos... |
ORPHA:51 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Orthostatic hypotension due to autonomic dysfunction, Hyperactivity, Abnormal emotion/affect beha... |
ORPHA:642 |
Glycogen Storage Disease Xii |
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Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy |
OMIM:611881 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypothermia |
OMIM:618329 |
Orthostatic Hypotension 1 |
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Intermittent hypothermia |
OMIM:223360 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Patent foramen ovale, Aggressive behavior, Ventricular septal defect, Ataxia, Left ventricular no... |
OMIM:300967 |
Legius Syndrome |
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Multiple lipomas, Hyperactivity, Paroxysmal atrial tachycardia, Mitral valve prolapse, Cataract, ... |
ORPHA:137605 |
Choreoacanthocytosis |
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Hair-pulling, Self-mutilation of tongue and lips due to involuntary movements, Hepatomegaly, Dysp... |
ORPHA:2388 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypothermia |
ORPHA:26793 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hypothermia |
OMIM:251880 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Opacification of the... |
ORPHA:79280 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypothermia |
ORPHA:230 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypothermia, Fever |
ORPHA:20 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Hypothermia |
ORPHA:90673 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Heart block, Hepatomegaly, Arrhythmia, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Generalized Arterial Calcification Of Infancy |
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Pulmonary arterial hypertension, Ventricular hypertrophy, Retinal hemorrhage, Osteomalacia, Peric... |
ORPHA:51608 |
Ethylene Glycol Poisoning |
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Cyanosis, Hypothermia |
ORPHA:31826 |
Truncus Arteriosus |
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Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cerebellar dysplasia, Cerebellar hypoplasia, Muscular dystrophy, Cerebellar cyst, Hydrocephalus |
OMIM:253280 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly |
ORPHA:255249 |
Liver Disease, Severe Congenital |
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Subvalvular aortic stenosis, Patent foramen ovale, Systolic heart murmur, Dilatation of the ventr... |
OMIM:619991 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Hypothermia, Temperature instability |
ORPHA:99027 |
Tbck-Related Intellectual Disability Syndrome |
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Hypothermia |
ORPHA:488632 |
Congenital Tracheomalacia |
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Pulmonary arterial hypertension, Ventricular septal defect, Single ventricle, Atrial septal defec... |
ORPHA:95430 |
Congenital Total Pulmonary Venous Return Anomaly |
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Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
Homozygous Familial Hypercholesterolemia |
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Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Biliary cirrhosis,... |
OMIM:619534 |
Yunis-Varon Syndrome |
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Pulmonary arterial hypertension, Ventricular septal defect, Hypertension, Atrial septal defect, A... |
ORPHA:3472 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... |
ORPHA:309854 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hypothermia, Fever |
ORPHA:255210 |
Neuroleptic Malignant Syndrome |
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Hypothermia, Fever |
ORPHA:94093 |
Alexander Disease |
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Hypothermia |
ORPHA:58 |
Beckwith-Wiedemann Syndrome |
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Choroideremia, Enlarged kidney, Polycythemia, Hypertrophic cardiomyopathy, Inguinal hernia, Conge... |
ORPHA:116 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Elevated circulating creatine kinase concentration, El... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypercholesterolemia, Hyperaldosteronism, Hypophosphatemia, Hypokalemia, Hyponatremia, Hypoammonemia |
ORPHA:534 |
Trichohepatoenteric Syndrome 1 |
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Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Hypothermia |
ORPHA:79282 |
Lipodystrophy, Familial Partial, Type 7 |
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Recurrent pancreatitis, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothermia |
OMIM:218700 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Cholelithiasis, Hypercholesterolemia |
ORPHA:273 |
Menkes Disease |
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Hypothermia |
ORPHA:565 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Cyanosis, Hypothermia, Fever |
ORPHA:293987 |
Singleton-Merten Syndrome 1 |
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Osteolytic defects of the phalanges of the hand, Subvalvular aortic stenosis, Mitral valve calcif... |
OMIM:182250 |
Beckwith-Wiedemann Syndrome |
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Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Omphalocele, Cardiomyopathy |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Umbilical hernia, Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Hypothermia |
ORPHA:226307 |
Occipital Horn Syndrome |
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Hypothermia |
ORPHA:198 |
Marburg Hemorrhagic Fever |
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Hypothermia, Fever |
ORPHA:99826 |
Syndromic Diarrhea |
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Abnormality of iron homeostasis |
ORPHA:84064 |
Sarcoidosis |
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Hypothermia, Fever |
ORPHA:797 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypothermia |
ORPHA:438213 |