Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Hypertrophia Musculorum Vera |
|
Calf muscle hypertrophy |
OMIM:145800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
Cidec-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tiss... |
ORPHA:435651 |
Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... |
OMIM:605820 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... |
OMIM:158600 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect... |
ORPHA:79085 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipo... |
OMIM:615238 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Hyperostosis Corticalis Generalisata |
|
Abnormal cortical bone morphology, Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Miyoshi Myopathy |
|
Tibialis muscle weakness, Distal lower limb amyotrophy, Calf muscle hypertrophy, Triceps weakness... |
ORPHA:45448 |
Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f... |
ORPHA:564003 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Insulin Autoimmune Syndrome |
|
Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H... |
ORPHA:411593 |
Myopathy, Distal, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Calf muscle hypert... |
OMIM:160300 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis |
OMIM:615198 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Insulin... |
OMIM:615980 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Calf muscle hypertrophy |
OMIM:618135 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... |
OMIM:612526 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Skeletal muscle hypertrophy, Insulin-resist... |
OMIM:613877 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... |
ORPHA:181393 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Muscular Dystrophy, Congenital, 1B |
|
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Eleva... |
OMIM:604801 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II ... |
OMIM:604367 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Hepatic steatosis, Skeletal muscle... |
ORPHA:280365 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... |
OMIM:147891 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Mueller-Weiss Syndrome |
|
Pedal edema, Fragmented, irregular epiphyses, Tibial torsion, Limitation of movement at ankles, S... |
ORPHA:566943 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... |
ORPHA:178400 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... |
OMIM:160150 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Rippling Muscle Disease 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:606072 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Calf muscle hypertrophy, Abnormal circulating hormone concent... |
ORPHA:280356 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... |
ORPHA:79084 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... |
ORPHA:3344 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... |
ORPHA:970 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Coxa vara, Decreased hip abduction, Rhizomelia, Flared iliac wing... |
OMIM:183849 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Insulin resistance, Hyperlipidemi... |
OMIM:617885 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Knee flexion contracture, Hip contracture, Congenital foot contractures, Paraspinal muscle hypert... |
OMIM:602484 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Abnormality of body weight, Delayed puberty, Decreased serum insulin-like ... |
ORPHA:314811 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Cirrhosis, Insulin re... |
ORPHA:528 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature, Distal lower limb musc... |
ORPHA:457050 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating crea... |
OMIM:613319 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine k... |
ORPHA:280333 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev... |
OMIM:613157 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, G... |
ORPHA:552 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... |
ORPHA:166119 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... |
OMIM:254130 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... |
OMIM:500002 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... |
ORPHA:2114 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... |
OMIM:608840 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis,... |
ORPHA:1423 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Myopathy, Insulin resistance |
ORPHA:79087 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... |
OMIM:611307 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities |
OMIM:609283 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Abnormality of skeletal muscle f... |
ORPHA:79083 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Spinal muscular atro... |
OMIM:615048 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Short femur, Femoral bowing, Osteolysis, Sclerosis of skul... |
OMIM:602080 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy, Elevated circulating creati... |
OMIM:611588 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Elevated circulating creatine ... |
OMIM:616052 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... |
ORPHA:2204 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Abnormality of skeletal muscle fiber size, Insulin resistance, Pancreatitis, Hepatic ... |
ORPHA:2348 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
Nemaline Myopathy 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... |
OMIM:620068 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... |
ORPHA:276435 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... |
OMIM:607634 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617069 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Primary Lipodystrophy |
|
Cirrhosis, Type II diabetes mellitus, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... |
OMIM:609324 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Femoral bowing, Broad t... |
OMIM:619638 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... |
OMIM:265900 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Limitation of joint mobility, Patholog... |
ORPHA:166277 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Cirrhosis, Insulin resistance, Hepati... |
ORPHA:79086 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis |
OMIM:174810 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia |
ORPHA:314802 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Atrophic scars, Myopathy, Sc... |
OMIM:616471 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concen... |
ORPHA:101082 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300718 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, P... |
OMIM:262400 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... |
OMIM:612937 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... |
OMIM:156500 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormal... |
ORPHA:1525 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f... |
ORPHA:276580 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Limb-girdle muscle weakness, Multiple joint contractures, Calf muscle hypertrophy, Reduced muscle... |
ORPHA:370968 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
Melorheostosis |
|
Increased bone mineral density, Arthritis, Joint stiffness, Hyperostosis, Skeletal muscle atrophy... |
ORPHA:2485 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... |
OMIM:618823 |
Nemaline Myopathy 5 |
|
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo... |
OMIM:226900 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Hyperinsuline... |
ORPHA:2298 |
Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el... |
OMIM:271530 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
Osteogenesis Imperfecta, Type Xiv |
|
Increased susceptibility to fractures, Recurrent fractures, Osteopenia, Femoral bowing |
OMIM:615066 |
Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Generalized joint laxity... |
OMIM:609325 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:601287 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Flexion contracture, Low... |
ORPHA:171442 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy |
ORPHA:238329 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... |
ORPHA:66628 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... |
ORPHA:94068 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... |
OMIM:610099 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... |
OMIM:608358 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ... |
OMIM:613327 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Lower lim... |
ORPHA:267 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... |
OMIM:166260 |
Ivic Syndrome |
|
Triphalangeal thumb, Pectoralis major hypoplasia, Absent thumb, Upper limb undergrowth, Limited e... |
OMIM:147750 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... |
ORPHA:179494 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... |
OMIM:619903 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Childhood-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Flexion contracture, Sle... |
ORPHA:171439 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy |
ORPHA:309169 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles |
OMIM:609452 |
Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Nemaline Myopathy 4 |
|
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... |
OMIM:609285 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
Distal Myotilinopathy |
|
Distal amyotrophy, Abnormal muscle fiber myotilin, Multiple joint contractures, EMG: myopathic ab... |
ORPHA:98911 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... |
ORPHA:598 |
Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Recurrent fractures, Slender long bone, Multiple prenatal fractures, Reduced bo... |
OMIM:619795 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi... |
ORPHA:1988 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met... |
ORPHA:56304 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... |
ORPHA:2126 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased serum leptin, Polyphagia, Obesity, Micropenis |
OMIM:614962 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Jaundice, Macroglossia, Myopathy, Skeletal muscle hypertrophy, Umbilical hernia |
ORPHA:2349 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Facial diplegia, Diaphyseal sclerosis, Craniofacial osteosclerosis, Co... |
OMIM:122860 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis, Facial palsy |
ORPHA:178377 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabete... |
ORPHA:436182 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Elevated circulatin... |
OMIM:616827 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis, Diaphyseal dysplasia |
OMIM:231095 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Caffey Disease |
|
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... |
ORPHA:1310 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... |
OMIM:300580 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Flat capital femoral... |
ORPHA:157965 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Skeletal muscle atrophy... |
ORPHA:352479 |
Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Limitation of ... |
OMIM:211350 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle hypertrophy |
ORPHA:263494 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Short ribs, Micrognathia, Short femur, Adducted thumb, Fla... |
OMIM:616897 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... |
OMIM:613156 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Generalized osteosclerosis, Flar... |
OMIM:215045 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... |
ORPHA:369 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Abnormal foot ... |
ORPHA:85184 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Generalized joint laxity, Rhizomelia, Micrognathia, Joint laxity, ... |
OMIM:613848 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
Achondroplasia |
|
Genu varum, Short femoral neck, Generalized joint laxity, Short ribs, Rhizomelia, Radial bowing, ... |
OMIM:100800 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle atrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concen... |
OMIM:608390 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Short f... |
ORPHA:1190 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... |
ORPHA:628 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... |
OMIM:617114 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... |
ORPHA:446 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Short femur, Femoral bowing, Abnormal sacroiliac joint morphology, ... |
ORPHA:1860 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Foot oligodactyly, Short femur |
OMIM:601357 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to slow healing fractures, D... |
OMIM:112250 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... |
ORPHA:2632 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Enamel hypoplasia, Muscul... |
OMIM:226670 |
Grant Syndrome |
|
Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvi... |
ORPHA:2097 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Erlenmeyer flask defor... |
ORPHA:210110 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu... |
OMIM:500009 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Slender long bone, Micrognathia, Abnormal cortical bone morphology, Limitati... |
ORPHA:1486 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo... |
ORPHA:73272 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... |
ORPHA:1306 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
Brody Disease |
|
Flexion contracture, Skeletal muscle hypertrophy |
OMIM:601003 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ... |
OMIM:167320 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... |
OMIM:602771 |
Albers-Schönberg Osteopetrosis |
|
Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morphology, Gener... |
ORPHA:53 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan,... |
ORPHA:206559 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Limb-girdle m... |
ORPHA:96180 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Micrognathia, Joint laxity, Femoral bowing, Joint hypermob... |
OMIM:617952 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis, Facial palsy |
ORPHA:1522 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Osteogenesis Imperfecta, Type Xiii |
|
Wide pubic symphysis, Wide distal femoral metaphysis, Angulated humerus, Recurrent fractures, Inc... |
OMIM:614856 |
Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Torticollis, Osteolysis in... |
ORPHA:73 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Ske... |
OMIM:616867 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Calvarial osteosclerosis, Erlenmeyer flask deformity of the femurs, Abnormal pelvic girdle bone m... |
OMIM:123000 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Skeletal muscle hypertrophy |
OMIM:255710 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Macroglossia, Impaired sensitivity to thyroid h... |
OMIM:614450 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... |
ORPHA:119 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:613752 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age, Hypogonadism |
OMIM:617119 |
Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities |
OMIM:255700 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Failure to thrive, Delayed puberty, Decreased HDL choles... |
OMIM:616834 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly |
OMIM:610539 |
Paramyotonia Congenita Of Von Eulenburg |
|
Skeletal muscle hypertrophy |
OMIM:168300 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Recurrent fractures, Osteopenia, Femoral bowing |
OMIM:126550 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... |
OMIM:307800 |
Shox-Related Short Stature |
|
Obesity, Skeletal muscle hypertrophy |
ORPHA:314795 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Scapulohumeral muscu... |
OMIM:158900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Myositis, Skeletal m... |
ORPHA:565899 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... |
OMIM:262190 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Central Core Disease |
|
Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... |
ORPHA:597 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... |
OMIM:608728 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture |
OMIM:607855 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:241530 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Micropenis, Obesity, F... |
OMIM:615547 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Hypogonadism |
OMIM:616113 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast... |
OMIM:608940 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Cystinuria, Failure ... |
OMIM:606407 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... |
ORPHA:424107 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... |
OMIM:269880 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... |
OMIM:607143 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal... |
ORPHA:206546 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... |
ORPHA:98855 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w... |
OMIM:617950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:615158 |
Dysosteosclerosis |
|
Short diaphyses, Short sternum, Broad femoral neck, Increased susceptibility to fractures, Short ... |
OMIM:224300 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... |
OMIM:614736 |
Axial Osteomalacia |
|
Increased bone mineral density, Myopathy, Osteomalacia |
OMIM:109130 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Short long bone, Short ribs, Short femur, Femoral bowing, Fractured rib, Sub... |
OMIM:618188 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density... |
OMIM:259700 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Skeletal muscle hypertrophy, Joint contracture of the hand, Elevated circul... |
OMIM:300280 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Short Syndrome |
|
Weight loss, Insulin resistance, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dent... |
ORPHA:3163 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy |
ORPHA:99014 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Coxa valga, Increased bone mineral density, Micrognathia, Flat acetab... |
ORPHA:163649 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr... |
ORPHA:254361 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Dystonia 7, Torsion |
|
Torticollis, Skeletal muscle hypertrophy |
OMIM:602124 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia |
ORPHA:90154 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec... |
OMIM:231100 |
Chylomicron Retention Disease |
|
Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, EMG: myopath... |
ORPHA:71 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Muscular dystrophy, ... |
OMIM:307030 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy |
ORPHA:84142 |
Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300009 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr... |
ORPHA:6 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... |
ORPHA:353327 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g... |
OMIM:261750 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Micrognathia, Craniofacial hyperosto... |
ORPHA:2484 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Ck Syndrome |
|
Joint hypermobility, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology |
OMIM:300831 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity |
ORPHA:791 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:264700 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Postprandial hypergl... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... |
OMIM:608612 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... |
ORPHA:508 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:277440 |
|