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 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... |
ORPHA:3416 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Myopathy, Distal, Infantile-Onset |
|
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Foot dorsiflexor wea... |
OMIM:160300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Calf muscle hypertrophy, Distal amyotrophy, Elevated circulating creatine kinase concentration |
OMIM:618135 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly |
ORPHA:2398 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... |
OMIM:615980 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, 2-3 f... |
ORPHA:3152 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ge... |
OMIM:604801 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
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 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Increased int... |
ORPHA:280365 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... |
ORPHA:2790 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concen... |
OMIM:606072 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... |
ORPHA:71529 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
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 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... |
OMIM:619566 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis... |
ORPHA:970 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem... |
ORPHA:528 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... |
OMIM:602484 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... |
ORPHA:314811 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Miyoshi Muscular Dystrophy 3 |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... |
OMIM:613319 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle... |
ORPHA:280333 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El... |
OMIM:608840 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... |
ORPHA:1423 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Calf... |
OMIM:611307 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Lipoatrophy, Myopathy |
ORPHA:79087 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... |
ORPHA:79083 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating c... |
OMIM:615048 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Paget Disease Of Bone 2, Early-Onset |
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Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
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Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:616052 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... |
ORPHA:2348 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... |
OMIM:184255 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Intrinsic hand muscle atrophy,... |
ORPHA:276435 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... |
ORPHA:1525 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
ORPHA:101082 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... |
ORPHA:79086 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Bethlem Myopathy 2 |
|
Scapular winging, Flexion contracture, Myopathy, Atrophic scars, Increased variability in muscle ... |
OMIM:616471 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula... |
OMIM:609325 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Weakness of facial musculature, Fatty rep... |
OMIM:256030 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Lower limb asymmetry, H... |
ORPHA:2485 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Glucose intoler... |
ORPHA:2298 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased connective tissue |
ORPHA:238329 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... |
ORPHA:276575 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Calf m... |
OMIM:601287 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... |
ORPHA:171442 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Calf... |
ORPHA:34515 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... |
ORPHA:56304 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity, Overgrowth, Polyphagia |
OMIM:620195 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
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 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia, Hypothyroidism |
ORPHA:2349 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Congenital Myopathy 5 With Cardiomyopathy |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Solitary Fibrous Tumor |
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Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Leptin Deficiency Or Dysfunction |
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Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia |
OMIM:614962 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
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Obesity |
ORPHA:1078 |
Seckel Syndrome 10 |
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Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Facial palsy, Craniosynostosis |
ORPHA:178377 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Macroglossia, Calf m... |
OMIM:616827 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... |
OMIM:616897 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Lipase Deficiency, Combined |
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Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Urethral stricture, Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fib... |
OMIM:226670 |
Galactokinase Deficiency |
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Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Lipodyst... |
OMIM:608594 |
Bardet-Biedl Syndrome 14 |
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Obesity |
OMIM:615991 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Dpm3-Cdg |
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Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Clino... |
ORPHA:73272 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Skeletal m... |
OMIM:613156 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Epiphyseal Dysplasia, Baumann Type |
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Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... |
ORPHA:369 |
3-Methylglutaconic Aciduria Type 1 |
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Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Bardet-Biedl Syndrome 13 |
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Obesity |
OMIM:615990 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
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Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
Muscle Filaminopathy |
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Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Achondroplasia |
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Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... |
OMIM:100800 |
Grant Syndrome |
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Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... |
ORPHA:2097 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Atelosteogenesis Type I |
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Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Myopathy, Myofibrillar, 2 |
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Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Congenital Myopathy 20 |
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Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Diastrophic Dysplasia |
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Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Myotonia, Potassium-Aggravated |
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Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... |
OMIM:608390 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Mitochondrial Myopathy, Infantile, Transient |
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Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Body Mass Index Quantitative Trait Locus 20 |
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Polyphagia, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
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Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Laing Early-Onset Distal Myopathy |
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Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
Neonatal Hemochromatosis |
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Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Hypersplenism, Splenomegaly, Hypocholesterolemia, Erlenmeyer flask deformity of the... |
OMIM:610539 |
Pituitary Hormone Deficiency, Combined, 4 |
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Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
Amish Nemaline Myopathy |
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Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Myopathy, Myofibrillar, 7 |
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Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Shoulder flexion co... |
OMIM:617114 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Myasthenic Syndrome, Congenital, 12 |
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Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Familial Multiple Lipomatosis |
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Bowing of the long bones, Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipid... |
ORPHA:199276 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Lipod... |
OMIM:269700 |
Flynn-Aird Syndrome |
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Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Glycogen Storage Disease Iii |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Brody Disease |
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Skeletal muscle hypertrophy, Flexion contracture |
OMIM:601003 |
Lethal Congenital Contracture Syndrome Type 1 |
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Skeletal muscle atrophy, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender... |
ORPHA:1486 |
Cerebrooculofacioskeletal Syndrome 1 |
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Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa valga, Insulin resistance,... |
OMIM:214150 |
Congenital Myopathy 15 |
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Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Intellectual Developmental Disorder, X-Linked 97 |
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Obesity |
OMIM:300803 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Diarrhea 13 |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Albers-Schönberg Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... |
ORPHA:53 |
Congenital Myopathy 3 With Rigid Spine |
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Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... |
ORPHA:96180 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
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Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
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Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... |
ORPHA:206559 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal metaphysis morphology, Facial palsy, Osteopetrosis |
ORPHA:1522 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Small for gestational age, Weakness of facial musculature, Centrally nucleated skeletal muscle fi... |
OMIM:618484 |
Congenital Myopathy 4A, Autosomal Dominant |
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Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Short Syndrome |
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Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete... |
OMIM:269880 |
Nemaline Myopathy 5C, Autosomal Dominant |
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Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull b... |
OMIM:123000 |
Spondyloepiphyseal Dysplasia Tarda |
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Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Congenital Myopathy 10B, Mild Variant |
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Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Schaaf-Yang Syndrome |
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Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... |
OMIM:615547 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Osteogenesis Imperfecta, Type Xiii |
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Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Skeletal muscle hypertrophy, Firm muscles |
OMIM:255710 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bon... |
ORPHA:73 |
Bardet-Biedl Syndrome 22 |
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Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Multiple Epiphyseal Dysplasia Type 4 |
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Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities |
OMIM:255700 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Summitt Syndrome |
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Obesity |
OMIM:272350 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:613752 |
Short Stature, Dauber-Argente Type |
|
Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsulinemia, Inc... |
OMIM:619489 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Paramyotonia Congenita |
|
Skeletal muscle hypertrophy |
OMIM:168300 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase con... |
OMIM:158900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Shox-Related Short Stature |
|
Skeletal muscle hypertrophy, Obesity |
ORPHA:314795 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Calf muscl... |
ORPHA:565899 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Insulin resistance, Generalized lipody... |
ORPHA:90154 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Central Core Disease |
|
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... |
ORPHA:597 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:241530 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Micrognathia |
OMIM:300831 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... |
OMIM:254090 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Flat acetabular roof, Flattened epiphys... |
ORPHA:163649 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn... |
OMIM:224300 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... |
OMIM:618188 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Elbow flexion con... |
ORPHA:206546 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... |
ORPHA:98855 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy |
ORPHA:99014 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... |
OMIM:615160 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short toe, Hyperinsulinemia, Obesity, Type II diabetes mellitus, ... |
ORPHA:3085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Axial Osteomalacia |
|
Myopathy, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Fl... |
OMIM:259700 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, G... |
ORPHA:91 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... |
OMIM:608612 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, C... |
ORPHA:2484 |
Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Sandal... |
ORPHA:79324 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... |
ORPHA:254361 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, EMG: myopathic abnormalities, M... |
ORPHA:71 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He... |
OMIM:248370 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Insulin resistance, H... |
ORPHA:508 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Failure to thrive, Hypothyroidism, Hypocholesterolemia |
OMIM:610883 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Sandal gap, Cachexia, Precocious puberty, In... |
ORPHA:813 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function, H... |
ORPHA:79319 |
Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy |
ORPHA:99736 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:160800 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... |
ORPHA:98863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Elevated circulating creatine kinase co... |
OMIM:606612 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Diastasis recti, Polydactyly, Decreased body weight, Cli... |
ORPHA:231140 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... |
ORPHA:98853 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Enamel hypoplasia |
OMIM:617915 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Werner Syndrome |
|
Skeletal muscle atrophy, Lipoatrophy, Lipodystrophy, Rocker bottom foot, Insulin resistance, Smal... |
ORPHA:902 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
Myotonia Permanens |
|
Skeletal muscle hypertrophy, Generalized muscle hypertrophy |
ORPHA:99735 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Increased circu... |
OMIM:300280 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Congenital Myopathy 24 |
|
Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance |
OMIM:617336 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Impaired oral bolus formation, Dysphagia |
OMIM:617235 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injurious behavior, Co... |
OMIM:613670 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy, Mildly elevated creatine kinase |
OMIM:600705 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Short toe, Truncal obesity, Delayed puberty, H... |
ORPHA:633 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Limb undergrowth, Clinod... |
OMIM:616541 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Elevated circulating creat... |
ORPHA:98896 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypogonadism, Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... |
ORPHA:370959 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
ORPHA:96168 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ... |
ORPHA:42 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Obesity |
ORPHA:459033 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
ORPHA:682 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Increased circulatin... |
ORPHA:1227 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... |
ORPHA:401768 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyper... |
OMIM:602579 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Insulin res... |
OMIM:209900 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... |
ORPHA:2088 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Nemaline bodies, Abnormality of skeletal muscle fiber size, Increased en... |
OMIM:620278 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Proteus Syndrome |
|
Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Facial hyperostosi... |
OMIM:176920 |
Tenorio Syndrome |
|
Macroglossia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Failure to thrive, Hypergonadotro... |
OMIM:212065 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy |
OMIM:619026 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Dy... |
OMIM:613561 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... |
ORPHA:264580 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture, Osteolytic defects of the distal phalang... |
ORPHA:90153 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Transient hyp... |
ORPHA:156 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... |
OMIM:601462 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu... |
ORPHA:289504 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Macroglossia, Abnormal epip... |
ORPHA:1798 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... |
OMIM:618120 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Skeletal muscle hypertrophy, Distal lower limb muscle wea... |
ORPHA:3101 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Flexion contracture, Increased variability in... |
OMIM:616866 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocati... |
OMIM:618395 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Limb hypertonia |
OMIM:620306 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Limb muscle weakness, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Elevated circulating crea... |
OMIM:255800 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Facial palsy, Recurrent fractures |
OMIM:611490 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Short femoral n... |
ORPHA:2848 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F... |
ORPHA:398069 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Polyuria |
OMIM:222100 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral... |
OMIM:616723 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Decreased muscle mass, Small for gestational age, Decreased response to growth hormon... |
ORPHA:96182 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Elevated circulating creatine kinase concentration, Proximal amyotrophy, Upper limb muscle weakne... |
ORPHA:209335 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... |
OMIM:210740 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, D... |
OMIM:604360 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Corti... |
OMIM:131300 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... |
OMIM:602557 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... |
ORPHA:14 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:412 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... |
OMIM:203800 |
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 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva... |
ORPHA:79240 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Fasting hyperinsulinemia, Finger clinodactyly, Short palm, Hyperglycemia... |
ORPHA:79474 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Rhabdomyolysis, ... |
ORPHA:358 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Facial palsy, Micrognathia, High iliac wing, Osteopetrosis, Large... |
ORPHA:2780 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Femur fracture |
OMIM:619322 |
Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... |
OMIM:300942 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... |
ORPHA:52430 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In... |
OMIM:235200 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... |
ORPHA:525731 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Impaired glucose tolerance, Elevated circulating creatine kinase c... |
OMIM:610131 |
StĂĽve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia, Short 5th metacarpal |
ORPHA:66518 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Rett Syndrome |
|
Skeletal muscle atrophy, Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abn... |
ORPHA:778 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Multiple lipomas, Ragged-red muscle fibers, Increased adipose tissue |
ORPHA:1349 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,... |
OMIM:616145 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Polyphagia, Self-injurious behavior, Abnormal repetitive mann... |
ORPHA:228402 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... |
OMIM:616026 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity... |
ORPHA:251004 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Tall stature, Increased bo... |
ORPHA:300373 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight |
ORPHA:890 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Macroglossia, Ca... |
OMIM:607155 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Increased variability in muscle fiber diameter, Increased muscle glycogen conten... |
ORPHA:502423 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto... |
ORPHA:90652 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... |
ORPHA:763 |
Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Decreased ... |
ORPHA:125 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... |
OMIM:616113 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... |
ORPHA:398079 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... |
OMIM:618853 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... |
OMIM:260370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... |
OMIM:613150 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical h... |
OMIM:175700 |
Stiff Person Spectrum Disorder |
|
Paraspinal muscle hypertrophy |
ORPHA:3198 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Failure to thrive, Decreased body weight |
OMIM:617164 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Centrally nucleated skeletal muscle fibe... |
OMIM:248800 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:176270 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... |
ORPHA:2796 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Multiple lipomas, Distal amyotrophy, Increased variability in muscle fiber diame... |
OMIM:617675 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Optic Atrophy 11 |
|
Hyperactivity, Splenomegaly, Facial diplegia, Stereotypical body rocking, Attention deficit hyper... |
OMIM:617302 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... |
OMIM:252011 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Abnormal meta... |
ORPHA:2658 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Overgrowth, U... |
ORPHA:254534 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... |
ORPHA:273 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
Glycogen Storage Disease Vii |
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Exercise-induced myoglobinuria, Jaundice, Increased muscle glycogen content, Hematuria, Increased... |
OMIM:232800 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, ... |
OMIM:157640 |
Combined Oxidative Phosphorylation Defect Type 27 |
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Ragged-red muscle fibers |
ORPHA:477774 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Familial Osteodysplasia, Anderson Type |
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Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
Trisomy 18P |
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Polyphagia, Facial palsy, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot... |
ORPHA:298 |
Secondary Short Bowel Syndrome |
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Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Steatorrhea, Failure to... |
ORPHA:95427 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Mitochondrial Dna Depletion Syndrome 11 |
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Facial palsy, Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
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Obesity |
OMIM:619755 |
Luscan-Lumish Syndrome |
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Polyphagia, Overgrowth, Obesity, Aggressive behavior |
OMIM:616831 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Multiple Endocrine Neoplasia, Type I |
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Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Beemer-Ertbruggen Syndrome |
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Increased bone mineral density, Micrognathia |
ORPHA:1237 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hand muscle... |
ORPHA:98908 |
Glycogen Storage Disease Xv |
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Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing... |
OMIM:300990 |
Pelvis-Shoulder Dysplasia |
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Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Late-Onset Isolated Acth Deficiency |
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Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
King-Denborough Syndrome |
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Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
Pituitary Adenoma 4, Acth-Secreting |
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Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACT... |
OMIM:219090 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Nephrolithiasis, Myopathy, Generalized ... |
ORPHA:352447 |
Pituitary Stalk Interruption Syndrome |
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Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
Angelman Syndrome |
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Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hepatocellular ... |
OMIM:232200 |
Smith-Magenis Syndrome |
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Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo... |
OMIM:182290 |
7Q11.23 Microduplication Syndrome |
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Inguinal hernia, Collectionism, Hypospadias, Hyperactivity, Unilateral renal agenesis, Congenital... |
ORPHA:96121 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
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Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Ehlers-Danlos Syndrome, Classic-Like |
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Unilateral renal agenesis, Increased connective tissue, Hiatus hernia, Proximal amyotrophy, Atrop... |
OMIM:606408 |
Pancreatic And Cerebellar Agenesis |
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Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Skeletal muscle atrophy, Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Abnorm... |
ORPHA:3068 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Aggressive behavior, Macroglossia, Self-injurious behavior, Inappropriate laughter, Bruxism, Micr... |
OMIM:156200 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Cog8-Cdg |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Glycogen Storage Disease Xii |
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Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... |
ORPHA:90363 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Congenital Disorder Of Glycosylation, Type It |
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Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Dent Disease |
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Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Kenny-Caffey Syndrome, Type 2 |
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Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... |
OMIM:127000 |
Silver-Russell Syndrome Due To A Point Mutation |
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Syndactyly, Inguinal hernia, Small for gestational age, Hypoglycemia, Short 5th finger, Polydacty... |
ORPHA:397590 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Weaver Syndrome |
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Inguinal hernia, Diastasis recti, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture ... |
OMIM:277590 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Enlarged kidney |
OMIM:618272 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... |
OMIM:615453 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Reni Syndrome |
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Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Hypothy... |
OMIM:617575 |
Oculodentodigital Dysplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Coenzyme Q10 Deficiency, Primary, 2 |
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Overweight, Obesity |
OMIM:614651 |
Wagro Syndrome |
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Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Leri-Weill Dyschondrosteosis |
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Skeletal muscle hypertrophy |
OMIM:127300 |
Osteopetrosis, Autosomal Recessive 8 |
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Facial palsy, Osteopetrosis |
OMIM:615085 |
Geroderma Osteodysplasticum |
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Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t... |
OMIM:251000 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Ragged-red muscle fibers |
OMIM:613662 |
Polymyositis |
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Hepatomegaly, Anorexia, Abnormal muscle fiber morphology, Weight loss, Chondrocalcinosis |
ORPHA:732 |
Bardet-Biedl Syndrome 8 |
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Obesity |
OMIM:615985 |
Antley-Bixler Syndrome |
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Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Osteopetrosis, Autosomal Recessive 3 |
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Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Myopathy With Lactic Acidosis, Hereditary |
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Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Schwartz-Jampel Syndrome |
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Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increase... |
ORPHA:800 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
Stuve-Wiedemann Syndrome 1 |
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Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Myopathy, Increased variability in muscle fiber diameter, Hepatomegaly |
OMIM:604377 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
Bardet-Biedl Syndrome |
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Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic sy... |
ORPHA:110 |
Pseudohypoparathyroidism Type 1B |
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Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... |
ORPHA:94089 |
Glycerol Kinase Deficiency |
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Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... |
OMIM:307030 |
Overlap Myositis |
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Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Perifa... |
ORPHA:206572 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
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Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
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Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Gm1-Gangliosidosis, Type Ii |
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Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex |
OMIM:230600 |
Osteopetrosis, Autosomal Recessive 5 |
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Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostosis, Flared metaphys... |
OMIM:259720 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
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Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Lethal Congenital Contracture Syndrome 5 |
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Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
Mesomelia-Synostoses Syndrome |
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Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb... |
ORPHA:300605 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Short palm |
OMIM:241410 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:256810 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Limb-girdle muscular dystrophy, Muscular d... |
ORPHA:369840 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Macroglossia, Hypoplasia of the thymus, Increased variability in muscle... |
OMIM:617022 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:616503 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c... |
OMIM:600920 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Osteopoikilosis, Micrognathia |
ORPHA:94063 |
8Q24.3 Microdeletion Syndrome |
|
Joint laxity, Long toe, Microretrognathia, Congenital hip dislocation, Short femur, Rocker bottom... |
ORPHA:508488 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive, Abnor... |
ORPHA:2609 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Fai... |
OMIM:210210 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... |
OMIM:618329 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr... |
ORPHA:35107 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... |
ORPHA:95409 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Osteoporosis, Flared met... |
OMIM:249420 |
Kaufman Oculocerebrofacial Syndrome |
|
Clinodactyly of the 5th finger, Failure to thrive, Metatarsus adductus, Hypocholesterolemia |
OMIM:244450 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler... |
ORPHA:2905 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Hypoalbuminemia, Hypochole... |
OMIM:270400 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:620300 |
Adnp Syndrome |
|
Inguinal hernia, Urinary incontinence, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal ob... |
ORPHA:404448 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Dysphagia, Increased variabili... |
OMIM:164310 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Myopathy |
ORPHA:2323 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Obsessive-compulsive trait, Hy... |
ORPHA:500055 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Adrenal cal... |
ORPHA:85138 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormal repetitive... |
ORPHA:1606 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pedal edema, Pathologic f... |
ORPHA:77259 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperac... |
ORPHA:261197 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ... |
OMIM:605822 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, Decreased response to growth hormone stimulation test, Abnormal repe... |
OMIM:615873 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... |
ORPHA:293987 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... |
ORPHA:666 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Dubowitz Syndrome |
|
Syndactyly, Inguinal hernia, Hypocholesterolemia, Clinodactyly of the 5th finger, Decreased circu... |
OMIM:223370 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... |
ORPHA:31150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Long fingers... |
OMIM:309583 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Flexion contr... |
OMIM:264090 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Increased body weight, Horseshoe kidney, Self-injurious behavior, Micropenis |
OMIM:300860 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism,... |
OMIM:616629 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Hypercholesterolemia |
ORPHA:86816 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Obes... |
ORPHA:261494 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation |
ORPHA:251028 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Coxa valga, Insulin resistance, Absence of subcutane... |
ORPHA:740 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long... |
ORPHA:3455 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... |
OMIM:608328 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Flexion contrac... |
ORPHA:258 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... |
ORPHA:96253 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... |
ORPHA:79318 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Multiple renal cysts, R... |
OMIM:618733 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive, Hepatocel... |
ORPHA:79259 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Femoral hernia, Hypospadias, Precocious puberty, Epis... |
ORPHA:2588 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogrypos... |
OMIM:602398 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdom... |
OMIM:267000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... |
ORPHA:79102 |
Myhre Syndrome |
|
Small for gestational age, Generalized muscle hypertrophy, Obesity, Skeletal muscle hypertrophy, ... |
OMIM:139210 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Small for gestation... |
ORPHA:26793 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Large for gestational age, Overgrowth, Dysphagia, ... |
ORPHA:254519 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:619714 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... |
OMIM:232240 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hyperlipidemia, Increased muscle lipid content, Ab... |
ORPHA:565612 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... |
OMIM:229600 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Acute hepatic steatosis, Cholesterol galls... |
ORPHA:209902 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesity, Re... |
ORPHA:3138 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Leiomyosarcoma,... |
ORPHA:116 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Neck muscle hypertrophy |
ORPHA:420492 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Camptodactyly of finger, Ectopic kidney, Aggressive behavior, Polyphagia, Obesity, D... |
OMIM:607872 |
Atelis Syndrome 2 |
|
Clinodactyly, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metaca... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metaca... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metaca... |
ORPHA:99226 |
Turner Syndrome |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short 5th metaca... |
ORPHA:881 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:98914 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Femoral bowing, Decreased circulating renin level, Hyponatr... |
OMIM:201750 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
Sotos Syndrome |
|
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... |
OMIM:117550 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Large for gestational age, Renal cyst, Macroglossia, Overgrowth, Bifid ureter, T... |
OMIM:617107 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Joint stiffness, Macroglossia, Arthritis, Abnormal corti... |
ORPHA:93 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi... |
ORPHA:3337 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Muscl... |
ORPHA:1900 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Multicystic kidney dysplasia, Large for gestational age, Macroglossia, Proportio... |
ORPHA:500095 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... |
ORPHA:254892 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hyp... |
ORPHA:90041 |
Carney Complex |
|
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... |
ORPHA:1359 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Pes planus, Down-sloping... |
ORPHA:904 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Melas |
|
Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:550 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Increased body weight, Hemoglobinuria, Acute kidney i... |
ORPHA:244242 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets |
OMIM:252010 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures, Micrognathia |
ORPHA:2785 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers |
ORPHA:255210 |
Mowat-Wilson Syndrome |
|
Generalized muscle hypertrophy |
OMIM:235730 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Muscle hypertrophy of the lower extremities, Obesity |
ORPHA:1772 |
Parkes Weber Syndrome |
|
Lower limb muscle weakness, Muscle hypertrophy of the lower extremities |
ORPHA:90307 |
Choreoacanthocytosis |
|
Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy |
ORPHA:2388 |
Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Tendon rupture |
OMIM:182250 |