Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Proximal muscle weakness in lower limbs, Scapul... |
OMIM:301075 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... |
OMIM:208081 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Increased variabilit... |
OMIM:300717 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Myopathy, Myofibrillar, 5 |
|
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... |
OMIM:609524 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... |
OMIM:614915 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... |
OMIM:608358 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... |
OMIM:619477 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... |
OMIM:619042 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... |
OMIM:615348 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... |
ORPHA:86812 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging |
OMIM:617232 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... |
OMIM:617066 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... |
OMIM:618654 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... |
ORPHA:324581 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Respiratory i... |
OMIM:255160 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
OMIM:616816 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Reduced vital capacity |
OMIM:617760 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Muscular dys... |
OMIM:602771 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Respiratory insufficiency, Red... |
OMIM:255310 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... |
OMIM:619334 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... |
OMIM:160565 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Increased variability in muscle fiber diameter, Centrally nucleated skeletal musc... |
ORPHA:401768 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Multiminicore Myopathy |
|
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... |
ORPHA:598 |
Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, Chronic pulmonary... |
ORPHA:437572 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... |
OMIM:614399 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Respiratory failure |
OMIM:616794 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness |
OMIM:300816 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myopathic abnormaliti... |
OMIM:255200 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... |
OMIM:605355 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated skeletal mu... |
OMIM:615368 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Respiratory insufficiency, Rimmed vacuoles, Reduced f... |
OMIM:619518 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
Autosomal Dominant Centronuclear Myopathy |
|
Miscarriage, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abn... |
ORPHA:169189 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Flexio... |
ORPHA:171442 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Reduced vital capacity, Flexion contracture, Type 1 muscle fibe... |
OMIM:609285 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Reduced forced vi... |
OMIM:616052 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... |
ORPHA:98902 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Respiratory ... |
OMIM:609284 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... |
ORPHA:90117 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Aspiration... |
OMIM:606070 |
Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
Nemaline Myopathy 2 |
|
Nemaline bodies, Apnea, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:256030 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... |
ORPHA:98913 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Reduced vital capacity, Scapular winging, Joint contracture of the 5th finger, L... |
OMIM:617258 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure |
OMIM:600561 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato... |
ORPHA:663 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Tremor, Centrally nucleated skeletal mu... |
OMIM:619574 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Res... |
OMIM:616867 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:616470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Dystonia |
OMIM:619065 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, R... |
ORPHA:169186 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Respiratory insufficiency due to muscle weakness, Increased endomy... |
OMIM:607855 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory fai... |
OMIM:618291 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure, Tremor |
OMIM:618637 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... |
ORPHA:254864 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Myopathy |
OMIM:616314 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Centrally nucleated skeletal muscle fiber... |
OMIM:300219 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... |
ORPHA:597 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Neonatal death, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Res... |
OMIM:611890 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Reduced vital capacity, Macroglossia, Proximal muscle we... |
ORPHA:352479 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... |
OMIM:620011 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, EMG: myopathic abnormalities, ... |
OMIM:609560 |
Nemaline Myopathy 7 |
|
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... |
OMIM:610687 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Respiratory insuff... |
OMIM:603034 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Intrauterine growth retardation, Myopathy |
OMIM:618246 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Respiratory insufficiency du... |
OMIM:618276 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Nemaline bodies, Respiratory insufficiency, Limb muscle weakness |
OMIM:606842 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital... |
ORPHA:171439 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... |
OMIM:254210 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... |
OMIM:605809 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, EMG: myopathic abn... |
ORPHA:424107 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... |
ORPHA:352447 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... |
ORPHA:1145 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Lingual dystonia, Paroxysmal choreoathetosis |
OMIM:500003 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Minicore myo... |
ORPHA:178148 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Respiratory insufficiency, Upper limb muscle weakness, Distal amyotrophy |
OMIM:605253 |
Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... |
ORPHA:97244 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Flexion con... |
OMIM:254090 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Reduced vital capacity, Scapular winging, Type 1 muscle fiber predominance, Faci... |
OMIM:617336 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... |
OMIM:604320 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... |
OMIM:181405 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... |
OMIM:608931 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder |
OMIM:617863 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Respiratory fail... |
OMIM:245400 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency, Muscular dystrophy, Proximal amyotrophy |
OMIM:612999 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Recurrent aspiration pneumonia, Tremor, Respiratory failure, Respirat... |
ORPHA:2590 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Respiratory insufficiency, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615352 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Reduced vital capacity, EMG: myopathic abnormalit... |
ORPHA:329478 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... |
OMIM:612954 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Respiratory failure, Flexion contracture, Camptodactyly |
OMIM:618011 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Respiratory insufficiency, Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscl... |
OMIM:606071 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Respiratory paralysis |
ORPHA:681 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal amyotrophy, Choreo... |
OMIM:617519 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Respiratory insufficiency, Lower ... |
ORPHA:90103 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Facial palsy, Arth... |
OMIM:608930 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Central hypoventilation, Increased variability in muscle fiber ... |
ORPHA:171881 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Distal amyotrophy, Facial palsy,... |
OMIM:607684 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... |
ORPHA:206559 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Nemaline Myopathy 3 |
|
Nemaline bodies, EMG: myopathic abnormalities, Respiratory insufficiency, Type 1 muscle fiber pre... |
OMIM:161800 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Type 2 muscle fiber predominance |
OMIM:619028 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Dystonia, Lower limb hypertonia |
OMIM:610246 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Axial dystonia, Flexion contracture, Respiratory ... |
OMIM:619026 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory insufficiency, Respiratory failure, Knee flexion contracture |
OMIM:313420 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... |
OMIM:310200 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Reduced forced vi... |
OMIM:619461 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Upper limb postural tremor |
ORPHA:477774 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Type 2 muscle fiber pr... |
OMIM:619173 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... |
OMIM:301830 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Skeletal... |
OMIM:310440 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Respiratory insufficiency, Increased varia... |
ORPHA:171436 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Respiratory insufficiency, Death in infancy, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... |
ORPHA:536516 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Respiratory insufficiency, Pulmonary arterial hypertension, Respirat... |
OMIM:613845 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, In... |
OMIM:258450 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Action tremor, Scapular winging, Ragged-red muscle fi... |
ORPHA:254886 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis, Respiratory failure, Epistaxis |
ORPHA:449285 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... |
ORPHA:600 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Dyspnea, Sk... |
OMIM:615418 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... |
ORPHA:70 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615350 |
Spinocerebellar Ataxia Type 1 |
|
Abnormality of masticatory muscle, Respiratory failure, Postural tremor, Skeletal muscle atrophy,... |
ORPHA:98755 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Intrauterine growth retardation, Respiratory failure, Arthrogryposis m... |
OMIM:615330 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Respiratory insufficiency, Skeletal muscle atrophy, Flexion contracture |
ORPHA:98896 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Tremor, Death in infancy, Cardiorespiratory ... |
OMIM:619424 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Neonatal death, Intrauterine growth retardation, Dystonia, Myopathy |
OMIM:618237 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... |
ORPHA:52430 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Dystonia |
OMIM:614924 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Respiratory failure, Myopathy, Limb dystonia |
ORPHA:363400 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Flexion contracture, Intention tremor, Distal amyotrophy, Tremor, Respiratory failure |
OMIM:616505 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Type 2 muscle fiber atrophy, Type 1 muscle fiber predominance, Choreoathetosis, ... |
ORPHA:319514 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Respiratory insufficiency, Limb hypertonia, Distal amyotrophy, Choreoathetosis, Dystonia |
OMIM:618247 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Abnormal respiratory system physiology, Skeletal muscle atrophy, Respiratory failure |
ORPHA:803 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... |
ORPHA:206569 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in mus... |
OMIM:164310 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumot... |
ORPHA:454836 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Resting tremor, EMG: myopathic abnormalities, Increased variability in mus... |
OMIM:157640 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal morphology of musculature of pharynx, Titubation, Lower limb amyotrophy, Respiratory fai... |
ORPHA:280210 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Congenital diaphragmatic hernia |
ORPHA:1166 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Pontocerebellar Hypoplasia, Type 1A |
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Hand tremor, Respiratory insufficiency, Distal amyotrophy, Spinal muscular atrophy, Intercostal m... |
OMIM:607596 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency... |
OMIM:615512 |
Adducted Thumbs Syndrome |
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Myopathy, Respiratory insufficiency, Arthrogryposis multiplex congenita |
OMIM:201550 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
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Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... |
ORPHA:98853 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... |
OMIM:500013 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
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Dyspnea, Ragged-red muscle fibers |
ORPHA:1349 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Stillbirth, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary ... |
OMIM:619751 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Chylothorax, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Death in infancy, Neonatal... |
OMIM:619036 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
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Apnea, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ve... |
OMIM:612949 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
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Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
Acrocallosal Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:36 |
Greig Cephalopolysyndactyly Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:380 |
Lethal Congenital Contracture Syndrome 1 |
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Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... |
OMIM:253310 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... |
ORPHA:258 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Intrauterine growth retardation, Flexion contracture, Camptodactyly of finger, Death in infancy, ... |
ORPHA:1194 |
Mitochondrial Dna Depletion Syndrome 11 |
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Respiratory insufficiency, Dyspnea, Facial palsy, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
Greig Cephalopolysyndactyly Syndrome |
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Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
Immunodeficiency 95 |
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Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Native American Myopathy |
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Muscle fiber atrophy, Respiratory insufficiency, Abnormality of skeletal muscle fiber size, Campt... |
ORPHA:168572 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Death in childhood, Respiratory insufficiency, Rhabdomyolysis, Tremor, Respiratory failure, Intra... |
OMIM:610505 |
Butyrylcholinesterase Deficiency |
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Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
3-Methylglutaconic Aciduria, Type Viii |
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Apnea, Tremor, Death in infancy, Respiratory failure, Dystonia |
OMIM:617248 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Diaphragmatic Hernia 2 |
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Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
Congenital Fiber-Type Disproportion Myopathy |
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Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... |
ORPHA:2020 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Juvenile Amyotrophic Lateral Sclerosis |
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Oromandibular dystonia, Muscle fiber atrophy, Lower-limb joint contracture, Axial dystonia, Upper... |
ORPHA:300605 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
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Respiratory insufficiency, Skeletal muscle atrophy |
OMIM:616479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Apnea, Dystonia, Respiratory failure, Death in infancy |
OMIM:616277 |
Pparg-Related Familial Partial Lipodystrophy |
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Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... |
ORPHA:79083 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Aspiration pneumonia, Intrauterine growth retardation, Respiratory failure, Neonatal respiratory ... |
OMIM:619057 |
Postpoliomyelitis Syndrome |
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Respiratory insufficiency, Skeletal muscle atrophy, Hypoventilation |
ORPHA:2942 |
Mitochondrial Trifunctional Protein Deficiency |
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Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Myopathy |
OMIM:609015 |
Ehlers-Danlos Syndrome, Classic-Like |
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Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Congenital diaphragmatic hernia |
OMIM:166300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Respiratory insufficiency, Decreased muscle mass, Knee flexion contracture, Tracheomalacia |
OMIM:615490 |
Polymyositis |
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Exertional dyspnea, Respiratory insufficiency, Abnormal muscle fiber morphology, Cough |
ORPHA:732 |
Cooper-Jabs Syndrome |
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Respiratory insufficiency, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Cardiomyopathy, Dilated, 2G |
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Neonatal death, Increased Z-disc width |
OMIM:619897 |
Pericardial And Diaphragmatic Defect |
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Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Neonatal respirato... |
ORPHA:2847 |
Schisis Association |
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Congenital diaphragmatic hernia |
ORPHA:63862 |
13Q12.3 Microdeletion Syndrome |
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Obstructive sleep apnea, Intrauterine growth retardation, Congenital diaphragmatic hernia, Campto... |
ORPHA:412035 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
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Rhabdomyolysis, Neonatal death |
OMIM:602199 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... |
ORPHA:502423 |
Congenital Myasthenic Syndrome |
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Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... |
ORPHA:98914 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Increased intramyocellular lipid droplets, Rhabdomyolysis, Respiratory failure, Restrictive venti... |
ORPHA:26791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Respiratory distress, Weakness of facial musculature, Death in childhood, Increased intramyocellu... |
OMIM:220110 |
Intellectual Developmental Disorder, X-Linked 101 |
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Hyperactivity |
OMIM:300928 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Synaptic Congenital Myasthenic Syndromes |
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Respiratory distress, Sleep apnea, Hand muscle weakness, Right ventricular hypertrophy, Type 2 mu... |
ORPHA:98915 |
Renal Hypodysplasia/Aplasia 4 |
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Respiratory failure |
OMIM:619887 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
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Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Right ventricular hypertrophy, Left ventricular hypertrophy, Respiratory failure, Paroxysmal dysp... |
ORPHA:444013 |
Proximal 16P11.2 Microduplication Syndrome |
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Tremor, Congenital diaphragmatic hernia |
ORPHA:370079 |
Myasthenia, Limb-Girdle, Autoimmune |
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Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Muscular dystrophy, Respiratory failure |
OMIM:616538 |
Mitochondrial Trifunctional Protein Deficiency |
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Left ventricular hypertrophy, Respiratory insufficiency, Lower limb muscle weakness, Skeletal myo... |
ORPHA:746 |
Metatropic Dysplasia |
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Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... |
OMIM:156530 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Respiratory insufficiency, Congenital diaphragmatic hernia, Death in infancy |
ORPHA:1120 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Apnea, Exaggerated startle response, Flexion contracture, Elbow flexion contract... |
OMIM:617301 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Hyperactivity |
OMIM:619031 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
Ferguson-Bonni Neurodevelopmental Syndrome |
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Congenital diaphragmatic hernia |
OMIM:619699 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
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Gait imbalance, Intrinsic hand muscle atrophy, Finger flexor weakness, Inability to walk, Proxima... |
ORPHA:63273 |
Myopathy, Mitochondrial, And Ataxia |
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Tremor, Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
Serkal Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:139466 |
Poliomyelitis |
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Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Lower limb muscle weakness, R... |
ORPHA:2912 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
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Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Calf muscle hypertroph... |
OMIM:618733 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Resp... |
ORPHA:308552 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Torticollis, Death in childhood, Bradypnea, Tremor, Respiratory failure |
OMIM:617186 |
Hypotonia-Cystinuria Syndrome |
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Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Cebalid Syndrome |
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Congenital diaphragmatic hernia |
OMIM:618774 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Tonne-Kalscheuer Syndrome |
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Tremor, Congenital diaphragmatic hernia |
OMIM:300978 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Myopathy, Nemaline bodies, Flexion contracture |
OMIM:616549 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Wrist flexion ... |
ORPHA:254528 |
Asbestos Intoxication |
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Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... |
ORPHA:2302 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Art... |
ORPHA:496641 |
Donnai-Barrow Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:2143 |
Sandestig-Stefanova Syndrome |
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Intrauterine growth retardation, Respiratory failure, Camptodactyly |
OMIM:618804 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea |
ORPHA:168486 |
Morm Syndrome |
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Hyperactivity |
ORPHA:75858 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Respiratory failure |
ORPHA:88618 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Ragged-red muscle fibers, Abnormality of the extraocular muscles, Decreased muscle mass, Foot dor... |
ORPHA:298 |
Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Skeletal muscle hypertrophy, Respiratory insufficiency, Death in early adult... |
ORPHA:682 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Agenesis of the diaphragm |
OMIM:601027 |
Peripartum Cardiomyopathy |
|
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertiona... |
ORPHA:563 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy |
OMIM:611881 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:284180 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:301022 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Overlap Myositis |
|
Pulmonary arterial hypertension, Distal lower limb muscle weakness, Perifascicular muscle fiber a... |
ORPHA:206572 |
Seckel Syndrome 9 |
|
Asthma, Intrauterine growth retardation, Congenital diaphragmatic hernia |
OMIM:616777 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Congenital diaphragmatic hernia |
OMIM:618022 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:1915 |
Idiopathic Camptocormia |
|
EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... |
ORPHA:1320 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Increased muscle lipid content, Elbow flexion contracture, Knee... |
OMIM:608836 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Respiratory insufficiency, Increased intramyocellular lipid droplets, Ragged-red muscle fi... |
OMIM:252010 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Aspiration, Intrauterin... |
OMIM:618651 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Tremor |
OMIM:607426 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Dystonia |
OMIM:256000 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Respiratory insufficiency, Camptodactyly of finger, Intrauterine growth retardation, Congenital d... |
ORPHA:2311 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Respiratory insufficiency, Arthrogryposis m... |
ORPHA:994 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2063 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:250999 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Intrauterine growth retardation, Death in infancy, Opisthotonus |
OMIM:610678 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Genetic Recurrent Myoglobinuria |
|
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... |
ORPHA:99845 |
Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Right ventricular hypertrophy, Respiratory failure requiring ass... |
ORPHA:555874 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2075 |
Hepatic Veno-Occlusive Disease |
|