Ulna Metaphyseal Dysplasia Syndrome |
|
Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia |
OMIM:191420 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Adamantinoma |
|
Pathologic fracture, Bone pain, Hypercalcemia |
ORPHA:55881 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Hyperparathyroidism 4 |
|
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... |
ORPHA:276575 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone concentration, Abno... |
ORPHA:171706 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
ORPHA:99879 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spin... |
OMIM:615883 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Genu ... |
OMIM:619073 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Hyperins... |
OMIM:616033 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Osteopenia, Increased insulin like growth factor binding protein acid l... |
OMIM:619489 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Adrenal hypoplasia, Decreased response to growth hormone stimulation t... |
OMIM:614732 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Bone pain, Rickets, Elevated circula... |
OMIM:612089 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... |
ORPHA:276556 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o... |
ORPHA:97289 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... |
OMIM:601678 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... |
ORPHA:280356 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Delayed skeletal maturation, Reduced bone mineral density, Hypocalcemia |
ORPHA:172 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeleta... |
ORPHA:66628 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Bone pain, O... |
OMIM:602080 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... |
ORPHA:171442 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Accelerated skeletal maturation, Premature adrenarche, Hypo... |
ORPHA:90794 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Dilated cardiomyopathy,... |
OMIM:608099 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeleta... |
ORPHA:179494 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora... |
ORPHA:1436 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyr... |
OMIM:145001 |
Hypophosphatasia |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Neonatal hypoglycemia, Increased blood urea nitrogen... |
OMIM:223360 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy |
OMIM:255100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... |
OMIM:612937 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:603233 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Glucose intolerance, Fused cervical vertebrae, Scoliosis, Thoracic hemiv... |
OMIM:309620 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, Thoracic kyphosis, Hypocalcemia, Scoli... |
ORPHA:557003 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Delayed skeletal maturation, Elbow flexion contracture... |
OMIM:618440 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr... |
OMIM:239200 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Vertebral clefting, Increased sus... |
OMIM:241500 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen |
OMIM:613845 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormal sacrum morphology, Limitation of joint mobility, Osteolysis, Chondrocalci... |
ORPHA:2591 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:145981 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Delayed pube... |
ORPHA:251004 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Increased variability in musc... |
OMIM:611705 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Gonadotropin ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Gonadotropin ... |
ORPHA:71526 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... |
OMIM:131100 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Aminoaciduria, Hepatosplenomegaly |
ORPHA:33574 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, A... |
OMIM:619566 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyper... |
OMIM:241200 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
ORPHA:89938 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Delayed skeletal... |
OMIM:615363 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:602522 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglyce... |
ORPHA:2298 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Vertebral segmentation defect, Hypoplasti... |
OMIM:618845 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-c... |
ORPHA:263455 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... |
OMIM:609284 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Bone pain, Hypophospha... |
OMIM:600740 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Pulmonic stenosis, Common atrium, Osteochondrosis |
ORPHA:96168 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:85138 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Increased muscle lipid content, Myopathy, Cardiomyopathy |
OMIM:610717 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Hypocalcemia |
ORPHA:100025 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Hyperinsuli... |
ORPHA:3085 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Central Core Disease |
|
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... |
ORPHA:597 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypopho... |
OMIM:156400 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Accelerated... |
ORPHA:528 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of sec... |
ORPHA:785 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... |
ORPHA:95409 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... |
ORPHA:79445 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Delayed skeletal maturation, Decreased skull ossification, Hypoca... |
ORPHA:93324 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia, Abnormalit... |
OMIM:307500 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Pseudohypoparathyroidism, Type Ic |
|
Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh... |
OMIM:612462 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy |
ORPHA:352470 |
Timothy Syndrome |
|
Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of... |
OMIM:601005 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain... |
ORPHA:29073 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Osteopenia, Impaired glucose tolerance, Joint stiffness, Hyperlipidemia... |
OMIM:248370 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone pain, Osteolysis,... |
ORPHA:93160 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Myopathy, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi... |
OMIM:178110 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... |
OMIM:301830 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Vipoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulatin... |
ORPHA:97282 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Mpi-Cdg |
|
Hepatomegaly, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increa... |
OMIM:235200 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Flexion contracture, Gluco... |
OMIM:608612 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio... |
OMIM:613327 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral c... |
ORPHA:2345 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Myopathy |
ORPHA:26792 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Somatostatinoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration... |
ORPHA:97283 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... |
OMIM:214300 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Myopathy |
OMIM:618234 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... |
ORPHA:254886 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Distal symphalangi... |
OMIM:154230 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Accelerated skeletal maturation, Insulin-resistant diabetes m... |
ORPHA:79086 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Dislocation of toes, Congenital hip dislocation, Left atrial enlargement... |
OMIM:300280 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Atrial septal defect, Enlarged ovaries, Impaired glucose tolerance, Vent... |
ORPHA:769 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... |
ORPHA:36913 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:98855 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Bone pain, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:264700 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Abnormal heart morphology, Scoliosis, Thoracic hemivertebrae, Diabetes ... |
ORPHA:1445 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Myocarditis, Proximal muscle weakness in low... |
ORPHA:206569 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Hypocalcemia, Hypomagnes... |
OMIM:244460 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Dilated c... |
ORPHA:98853 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:600081 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Kyphosis, Hypercalcemia, Scoliosis |
ORPHA:476126 |
Ppoma |
|
Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of th... |
ORPHA:97278 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy |
ORPHA:2349 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed epiphyseal ossification, E... |
ORPHA:289157 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:157973 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:276621 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... |
ORPHA:94089 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Congenital malformation of the... |
ORPHA:2332 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Chondrocalcinosis, Hypocalc... |
ORPHA:405 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... |
OMIM:212140 |
Hereditary Renal Hypouricemia |
|
Back pain, Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Sandwich appearance of vertebral bodies, Osteomyeli... |
OMIM:259700 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... |
OMIM:602541 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Glucagonoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration... |
ORPHA:97280 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Primary hyperparathyroidism, Bone pain, Osteoporosis, Abnormal parathyroid morphol... |
ORPHA:99880 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth... |
OMIM:606407 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck... |
OMIM:613686 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, EM... |
OMIM:601419 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Aminoaciduria, Generalized amyot... |
OMIM:609560 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Grfoma |
|
Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the t... |
ORPHA:97261 |
Parathyroid Carcinoma |
|
Hypercalcemia, Primary hyperparathyroidism, Bone pain, Osteoporosis, Abnormal parathyroid morphol... |
ORPHA:143 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Short neck, Hemivertebrae, Hip disloca... |
OMIM:615583 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... |
OMIM:300539 |
Congenital Myopathy 16 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture |
OMIM:618524 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:29072 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Hyperlor... |
ORPHA:653 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogon... |
ORPHA:465508 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature |
ORPHA:254875 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... |
OMIM:614702 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... |
OMIM:161800 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... |
OMIM:203500 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral wedging, Scoliosis |
ORPHA:377 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Short neck |
ORPHA:1438 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Neuropathic arthropathy, Elevated circulating creatinine concentration, Scoliosis, Increased bloo... |
OMIM:223900 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f... |
ORPHA:352447 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Donohue Syndrome |
|
Precocious puberty, Delayed skeletal maturation, Hyperinsulinemia, Pancreatic islet-cell hyperpla... |
OMIM:246200 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:151660 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left he... |
ORPHA:3426 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Elevated circulating thyroid-stimulatin... |
OMIM:618183 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, S... |
OMIM:612852 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy... |
ORPHA:369840 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
Sengers Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
OMIM:212350 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Oncogenic Osteomalacia |
|
Bone pain, Increased susceptibility to fractures, Hypocalcemia, Hypophosphatemia, Pathologic frac... |
ORPHA:352540 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Foot joint contracture, Scoliosis, Increased blood urea nitrogen, Male hypogonadism |
ORPHA:90321 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... |
ORPHA:3208 |
Spinocerebellar Ataxia With Epilepsy |
|
Myopathy |
ORPHA:254881 |
Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Pseudohypoparathyroidism, Type Ia |
|
Short neck, Osteoporosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parat... |
OMIM:103580 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... |
OMIM:618476 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... |
ORPHA:915 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Dilated cardiomyopathy, Flexion contracture, Abnormal musc... |
ORPHA:367 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Elevated circulating C-reactive protein concentration, Elevated circulating creati... |
ORPHA:49041 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Accelerated ... |
OMIM:269700 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Patchy osteosclerosis, Delayed skeletal maturation, Spinal canal stenosis, Hy... |
ORPHA:2323 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity |
OMIM:150800 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
Caudal Regression Syndrome |
|
Maternal diabetes, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodie... |
ORPHA:3027 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr... |
ORPHA:411634 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ... |
ORPHA:3464 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Hypoketotic hypog... |
ORPHA:746 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Ventricular se... |
ORPHA:263297 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent foramen ovale, Hypoglycemia, Hypocalcemia, Butterfly vertebrae |
OMIM:607143 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... |
ORPHA:247353 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... |
OMIM:248800 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Accelerated skelet... |
OMIM:608594 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hypert... |
OMIM:604377 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Hypo... |
OMIM:235255 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Kyphosis, Hip dislocation, Joint hyperflexibility, Verte... |
ORPHA:96169 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Solitary Fibrous Tumor |
|
Low back pain, Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic ri... |
ORPHA:2126 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Osteomyelitis, Abnormality of the endocrine system, Splenomegaly, Abnormal blood... |
ORPHA:37042 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... |
ORPHA:85451 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
X-Linked Agammaglobulinemia |
|
Arthritis, Osteomyelitis, Hypocalcemia |
ORPHA:47 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertroph... |
ORPHA:2348 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Myopathy, Cardiomyopathy |
ORPHA:228305 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s... |
ORPHA:79083 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Abnormal heart morphology, Hypocal... |
ORPHA:2237 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Tracheomalacia, Elb... |
OMIM:150250 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Thyroiditis, Rickets, Hypocalcemia, Delayed puberty, Type I diabetes mellitus |
OMIM:212750 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Delayed closure o... |
OMIM:127000 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Myopathy |
OMIM:275630 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... |
ORPHA:559 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Gitelman Syndrome |
|
Maternal diabetes, Pericardial effusion, Insulin resistance, Delayed puberty, Hypermagnesemia, Go... |
ORPHA:358 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... |
OMIM:615418 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomyopathy, Myopathy |
OMIM:300842 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Kyphosis, Scleros... |
OMIM:130720 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79443 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Diabetes mellitus, Bicuspid aortic valve, Hypercalcemia, Ventricular se... |
OMIM:194050 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... |
ORPHA:79474 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulat... |
ORPHA:36234 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H... |
ORPHA:73224 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Hepatosplenomegaly, Hypocalcem... |
ORPHA:1655 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Short neck... |
ORPHA:175 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... |
ORPHA:1724 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Ventricular septal defect, Bicuspid aor... |
OMIM:610443 |
Gracile Bone Dysplasia |
|
Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Hyperlordosis, Cardio... |
ORPHA:268 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Prader-Willi Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:176270 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Splenomegaly, Hypokalemia, Hypo... |
OMIM:617913 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Atrial septal d... |
OMIM:617190 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:682 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
EMG: myopathic abnormalities, Myopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:99901 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ventricular septal defect, Hypercalcemia,... |
ORPHA:821 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, Increased intramyocellul... |
ORPHA:98907 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A... |
ORPHA:2306 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Hyp... |
OMIM:609053 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:713 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyp... |
OMIM:259720 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Cystinosis |
|
Myopathy, Aminoaciduria |
ORPHA:213 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature |
OMIM:201470 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Generalized amyotrophy, Increased variabili... |
ORPHA:52430 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Decreased response to growth hormone stimula... |
ORPHA:699 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Myopathy, Cardiomyopathy |
OMIM:614922 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle... |
ORPHA:98908 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Myopathy, Dilated cardiomyopathy |
OMIM:609015 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal heart valve morphology, Tarsal synostosis, Camptodactyly... |
ORPHA:90652 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hepatomegaly, Myopathy |
ORPHA:169090 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy |
OMIM:620326 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... |
OMIM:171480 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal defect, Patent for... |
OMIM:619991 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Increased bone mineral density, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs,... |
ORPHA:289176 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Decreased response to g... |
OMIM:213980 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,... |
ORPHA:447 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ... |
ORPHA:254892 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Delayed skeletal maturation, Decreased skull ossification, Hyperp... |
ORPHA:93325 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynostosis, Splenom... |
ORPHA:667 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Flat acetabular roof, Fu... |
OMIM:617159 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity, Homocystinuria |
OMIM:277410 |
Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Abnormal cardiac se... |
ORPHA:3320 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Elevated circulating creatinine concentration, Myopathy, Hepatosplenomegaly |
ORPHA:85450 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Cardiac fibroma, Cardiac rhabdomyoma, Irregular ... |
OMIM:109400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Sarcoidosis |
|
Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Joint swelling, Abnormality of ... |
ORPHA:797 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Hypoglycemia, Delayed skeletal maturation, Rickets, Reduced bone minera... |
OMIM:613658 |
Immunodeficiency 9 |
|
Myopathy |
OMIM:612782 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Hypothyroidism, Lumbar scoliosis |
OMIM:617796 |
Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Vertebral fusion, Congenital hip dislocation, Hypoglycemia, Ventricular septal defe... |
ORPHA:373 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Hypogonadotropic hypogonadism, Anterior pituitary hy... |
OMIM:206900 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Abnormal heart valve morphology, Abnormal heart morphology, Myopathy, Arth... |
ORPHA:2953 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Proximal upper limb muscle hypertrophy, Skeletal muscle hypertrophy, ... |
ORPHA:280365 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypocalcemia, Septic arthritis |
ORPHA:544482 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia |
OMIM:192430 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Increased muscle lipid content, Abnormality of the calf musculature, ... |
ORPHA:565612 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... |
OMIM:268310 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Generalized amin... |
ORPHA:506 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Short neck, Reduced bone mineral density, Glucose intolerance,... |
ORPHA:881 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity |
OMIM:229300 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Myopathy, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:611881 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Muscular ventricular septal defect, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Scoliosis, Hypoinsulinemia, Delayed cranial suture closure |
OMIM:616260 |
Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Decreased muscle mass |
ORPHA:261476 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Rhabdomyolysis, Myopathy, Cardiomyopathy |
ORPHA:157 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Ragged-red muscle fi... |
ORPHA:255210 |
Scleromyxedema |
|
Myopathy, Abnormal skeletal muscle morphology |
ORPHA:167635 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Hypocalcemia, Hyperbilirubine... |
ORPHA:163979 |
Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Joint stiffness, L... |
OMIM:139210 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Barth Syndrome |
|
Skeletal myopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Endocardial fibroelastosis |
OMIM:302060 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Truncus arteriosus, Ventricula... |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Ventricular septal defect, Abnormal pulmonary valve morpholo... |
ORPHA:567 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Transposition of the great arteries, Cervic... |
ORPHA:1780 |
Melas |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Cardiom... |
ORPHA:550 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Ventricular septal defect, Kyphoscoliosis, Hemivertebrae, Abnormal hear... |
ORPHA:97360 |
Refsum Disease, Classic |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:886 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Recurrent fractures, Elevated circulating creatine kinase concentration, Hypocalcem... |
ORPHA:2785 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
Fumarase Deficiency |
|
Aminoaciduria, Perimembranous ventricular septal defect, Decreased fumarate hydratase activity |
OMIM:606812 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypocalcemia |
OMIM:300712 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Myopathy, Skeletal muscle atrophy |
OMIM:615512 |
Stormorken Syndrome |
|
Myopathy |
OMIM:185070 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyoc... |
ORPHA:423 |
Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Pericardial effusion, Splenomegaly, Hypocalcemia |
ORPHA:2136 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity, Homocystinuria, Cystathioninuria |
OMIM:277400 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture |
ORPHA:371364 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, Splenomegaly, Hepatosplenomegaly, M... |
OMIM:612541 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... |
OMIM:619503 |
Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect, Left ventricular hypertrophy |
OMIM:242840 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C... |
OMIM:101200 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Atrioventricular canal defect |
ORPHA:2549 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Hepatomegaly, Bicuspid aortic valve, Sagittal craniosynostosis, Osteoporosis, Hypoc... |
OMIM:218330 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
Abetalipoproteinemia |
|
Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly |
ORPHA:14 |
Digeorge Syndrome |
|
Pilonidal sinus, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro... |
OMIM:188400 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Fused cerv... |
OMIM:617137 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Atrial sept... |
OMIM:607323 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Tetralogy of Fallot |
ORPHA:959 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Muscular ventricul... |
OMIM:157800 |
Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... |
OMIM:108720 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... |
ORPHA:800 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Anomalous pulmonary venous return, Tracheomalacia, Cervi... |
OMIM:616368 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Ventricular septal defect, Precocious puberty, Kyphosis, Delayed... |
OMIM:194190 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:109 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Facial hypotonia, Myopathy, Hepatosplenomegaly |
ORPHA:309282 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:590 |
Aicardi Syndrome |
|
Block vertebrae, Precocious puberty, Scoliosis, Delayed puberty, Butterfly vertebrae |
ORPHA:50 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:98914 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Charge Syndrome |
|
Hypoparathyroidism, Overriding aorta, Hypogonadotropic hypogonadism, Decreased response to growth... |
OMIM:214800 |
Aicardi Syndrome |
|
Block vertebrae, Precocious puberty, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:304050 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... |
ORPHA:502423 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogonadis... |
ORPHA:79318 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Distal a... |
OMIM:164310 |
Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Ventricular septal defect, Patellar aplasia, Hip dislocation, Hepatosplenomega... |
OMIM:274000 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Increased VLDL choleste... |
OMIM:243800 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... |
OMIM:232300 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mitral valve prolapse, Wr... |
ORPHA:1900 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Generalized aminoaciduria, Myopathy, Aminoac... |
OMIM:219800 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... |
ORPHA:444077 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Myopathy |
ORPHA:536545 |
Wolfram Syndrome |
|
Cardiomyopathy, Myopathy |
ORPHA:3463 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal... |
OMIM:618733 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy |
OMIM:614921 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Adrenal calcification, Osteomalacia, Cardiomega... |
ORPHA:51608 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Cardiomegaly |
ORPHA:2463 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Ventricular septal defect, Hypocalcemia, Short neck |
OMIM:620330 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Hip dislocation, Cervical C5/C6 vertebrae f... |
OMIM:613458 |
Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy |
OMIM:162300 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Glycerol Kinase Deficiency |
|
Myopathy, Muscular dystrophy |
OMIM:307030 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Accelerated skeletal m... |
ORPHA:64 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Tetralogy of Fallot |
ORPHA:280200 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Myopathy, Abnor... |
ORPHA:1606 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Cardiomegaly |
OMIM:620306 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Acute rhabdomyolysis |
ORPHA:480864 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Choreoacanthocytosis |
|
Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Myopathy, Distal amy... |
ORPHA:2388 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Macroglossia, Camptodactyly, Arthrogry... |
OMIM:252500 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept... |
ORPHA:980 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral arc... |
ORPHA:83617 |
Friedreich Ataxia 2 |
|
Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Concentric hypertr... |
OMIM:601992 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Abnormal aortic valv... |
ORPHA:581 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass |
OMIM:234200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Caribbean Parkinsonism |
|
EMG: myopathic abnormalities |
ORPHA:97355 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Myopathy |
ORPHA:3042 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Dermatomyositis |
|
Myocarditis, Pericarditis, Inflammatory myopathy |
ORPHA:221 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Flexi... |
OMIM:256040 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Proteus Syndrome |
|
Enlarged polycystic ovaries, Splenomegaly, Decreased muscle mass, Myofibrillar myopathy |
ORPHA:744 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Tetralogy of F... |
OMIM:164210 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |