Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... |
ORPHA:266 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Proximal muscle weakness in lower limbs, Scapul... |
OMIM:301075 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy |
OMIM:608030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... |
OMIM:253400 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... |
OMIM:208081 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu... |
OMIM:606070 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Sleep apnea, Degeneration of anterior horn cells, Degeneration of ... |
OMIM:105400 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
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 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
OMIM:615515 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616437 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... |
OMIM:301830 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Respiratory insufficiency due to muscle w... |
OMIM:612069 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... |
OMIM:608358 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... |
OMIM:611067 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
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 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... |
ORPHA:86812 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... |
ORPHA:1145 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy |
ORPHA:65684 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Pontocerebellar Hypoplasia, Type 1C |
|
Cerebral cortical atrophy, Flexion contracture, Respiratory insufficiency, Spinal muscular atroph... |
OMIM:616081 |
Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... |
OMIM:614915 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... |
OMIM:602433 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
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 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Cerebral atrophy, Abnorma... |
OMIM:105550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging |
OMIM:617232 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Neurodegeneration, Motor n... |
ORPHA:803 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Myopathy, Myofibrillar, 5 |
|
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... |
OMIM:609524 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
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 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Cerebral atrophy, Paucity of anterior horn motor neurons, Neonatal death, Abnorm... |
OMIM:611890 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Respiratory i... |
OMIM:255160 |
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 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Progressive distal muscular atrophy, Spinal muscular atrophy... |
OMIM:159950 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... |
OMIM:619042 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Muscular dys... |
OMIM:602771 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Pontocerebellar Hypoplasia, Type 1A |
|
Cerebral cortical atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Distal... |
OMIM:607596 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Brain atrophy, Weakness of muscles of respiration, EMG: myopathic ... |
ORPHA:52430 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Axonal degeneration, Diaphragmatic eventration, Camptodactyly of finger, Degeneration of anterior... |
OMIM:604320 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... |
ORPHA:98913 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, Chronic pulmonary... |
ORPHA:437572 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Respiratory insufficiency, Red... |
OMIM:255310 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... |
OMIM:619334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... |
OMIM:614399 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Distal amyotrophy, Skelet... |
OMIM:608627 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... |
OMIM:617066 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... |
OMIM:618654 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure, Global brain atr... |
OMIM:611722 |
Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... |
ORPHA:324581 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... |
OMIM:253310 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... |
OMIM:619477 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
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, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Autosomal Dominant Centronuclear Myopathy |
|
Miscarriage, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abn... |
ORPHA:169189 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Cerebral cortical atrophy, ... |
ORPHA:370968 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Proximal amyotrophy |
OMIM:604484 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Flexion contracture, Arthrogryposis multiplex congenita, Skeletal musc... |
OMIM:618291 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Recurrent aspiration pneumoni... |
ORPHA:2590 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... |
ORPHA:90117 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Respiratory insufficiency, Rimmed vacuoles, Reduced f... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated skeletal mu... |
OMIM:615368 |
Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myopathic abnormaliti... |
OMIM:255200 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Reduced vital capacity, Scapular winging, Joint contracture of the 5th finger, L... |
OMIM:617258 |
Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Abnormal upper motor neuron morphology, Spasticity of facial muscles |
OMIM:606353 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... |
OMIM:160565 |
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 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... |
OMIM:205100 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Flexio... |
ORPHA:171442 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Scapular winging, Acrocyanosis |
ORPHA:2901 |
Multiminicore Myopathy |
|
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... |
ORPHA:598 |
Nemaline Myopathy 2 |
|
Nemaline bodies, Apnea, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:256030 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Respiratory failure |
OMIM:616794 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure, Cerebral atrophy |
OMIM:618637 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, R... |
ORPHA:169186 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
OMIM:616816 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration ... |
OMIM:271225 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure |
OMIM:600561 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalities, Myelitis, Abnormal... |
ORPHA:1320 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Neuronal loss in central nervous system, Cerebral atrophy, Respiratory insufficiency, Neon... |
OMIM:610127 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Res... |
OMIM:616867 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Respiratory ... |
OMIM:609284 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Myopathy |
ORPHA:91130 |
Hyperekplexia 4 |
|
Cerebral atrophy, Flexion contracture, Camptodactyly, Distal arthrogryposis, Respiratory failure |
OMIM:618011 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Reduced vital capacity |
OMIM:617760 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joi... |
ORPHA:300605 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Cerebellar atrophy, Distal amyot... |
OMIM:215470 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Centrally nucleated skeletal muscle fiber... |
OMIM:300219 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... |
ORPHA:352447 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal muscle weakness in low... |
OMIM:618138 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Frontal cortical atrophy, Brain atrophy, Pelvic girdle muscle atrophy,... |
OMIM:167320 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Cyanosis, Limb muscle weakness, Inspiratory stridor, Syringomyelia, Spina bifid... |
OMIM:207950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Reduced vital capacity, Flexion contracture, Type 1 muscle fibe... |
OMIM:609285 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... |
OMIM:605355 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness |
OMIM:300816 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Central hypoventilation, Degeneration of anterior horn cells, Distal am... |
OMIM:118301 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Myelitis, Respiratory failure |
ORPHA:71211 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Cerebral atrophy, Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy... |
OMIM:245400 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Reduced forced vi... |
OMIM:616052 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated skeletal muscle fib... |
OMIM:619574 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital... |
ORPHA:171439 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Abnormal lower motor neuron morphology, Abnorma... |
ORPHA:275872 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Brain atrophy, Atrophy/Degeneration affecting the brainstem, Death in infancy, Respiratory... |
OMIM:616277 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... |
ORPHA:254864 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Respiratory insufficiency due to muscle weakness, Cerebral atrophy, EMG: myopath... |
OMIM:609560 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Rhabdomyolysi... |
ORPHA:454836 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventr... |
OMIM:620011 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... |
ORPHA:1302 |
Ane Syndrome |
|
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... |
ORPHA:597 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:616470 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Cerebral atrophy, Neonatal respiratory distress |
OMIM:619057 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory insufficiency, Respiratory failure, Knee flexion contracture |
OMIM:313420 |
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, Interosseus muscle atrophy, Thenar muscle atrophy, Premature graying of hair... |
OMIM:619903 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... |
ORPHA:2302 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato... |
ORPHA:663 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac... |
ORPHA:276244 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Cerebral atrophy, Death in infancy |
OMIM:617248 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Respiratory insufficiency due to muscle weakness, Increased endomy... |
OMIM:607855 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal hemidiaphragm morphology, Abnormal bre... |
ORPHA:2257 |
Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Respiratory insuff... |
OMIM:603034 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Skeletal muscle atrophy |
ORPHA:2400 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... |
ORPHA:100070 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... |
OMIM:605809 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... |
OMIM:310200 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscl... |
OMIM:606071 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Frontal cortical atrophy, Cyanosis, Cerebellar atrophy, Exertional dys... |
ORPHA:621 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Flexion con... |
OMIM:254090 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... |
OMIM:254210 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Neuronal loss in central nervous system, Cerebral atrophy, C... |
ORPHA:363400 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Erythema, Rhabdomyolysis, Angioedema, Respiratory f... |
ORPHA:449285 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Nemaline bodies, Respiratory insufficiency, Limb muscle weakness |
OMIM:606842 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Cerebral atrophy, Arthrogryposis multiplex congenita |
OMIM:615330 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... |
ORPHA:91359 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Cerebral cortical atrophy, Skeletal muscle atrophy |
OMIM:617070 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... |
OMIM:610921 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... |
OMIM:610913 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... |
ORPHA:70 |
Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... |
ORPHA:98914 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Cerebellar atrophy, Neonatal respiratory distress, Respiratory failure |
ORPHA:168486 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Cerebral atrophy, Jaundic... |
OMIM:615512 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Brain atrophy, Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Globa... |
OMIM:617186 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Minicore myo... |
ORPHA:178148 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Right ventricular hypertrophy, Left ventricular hypertrophy, Cyanosis, Respiratory failure, Parox... |
ORPHA:444013 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... |
ORPHA:536516 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis, Skeletal muscle atrophy |
OMIM:252320 |
Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Abnormality of masticatory muscle, Respiratory fail... |
ORPHA:98755 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Abnormal upper motor neuron morphology, Cerebral atrophy |
OMIM:221770 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... |
OMIM:181405 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
OMIM:610910 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness |
OMIM:601162 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Cerebral atrophy, Weakness of facial musculature, Increased variability in muscle fiber diameter,... |
OMIM:619461 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency |
ORPHA:93941 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Apnea, Cyanosis, Hand muscle atrophy, Inspiratory stridor, Pneumonia, Meningoce... |
ORPHA:1136 |
Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Respiratory insufficiency, Increased varia... |
ORPHA:171436 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Cerebral cortical atrophy, Flexion contracture, Camptodactyly of finger, Death in infancy, Respir... |
ORPHA:1194 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Respiratory insufficiency, Pulmonary arterial hypertension, Respirat... |
OMIM:613845 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... |
ORPHA:258 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebral atrophy, Death in childhood, Atrophy/Degeneration affecting the brainstem, Tachypnea, Ce... |
OMIM:615838 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, We... |
OMIM:258450 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal morphology of musculature of pharynx, Titubation, Lower limb amyotrophy, Respiratory fai... |
ORPHA:280210 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Central hypoventilation, Increased variability in muscle fiber ... |
ORPHA:171881 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Reduced vital capacity, EMG: myopathic abnormalit... |
ORPHA:329478 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Respiratory failure, Flexion contracture, Distal amyotrophy |
OMIM:616505 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Brain atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased var... |
OMIM:164310 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... |
ORPHA:2020 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure requirin... |
OMIM:619026 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Cerebral atrophy, Scapular winging, Ragged-red muscle... |
ORPHA:254886 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Cerebellar atrophy, Facial palsy, Abnormal posturing |
OMIM:128100 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Pulmonary arterial hypertension, Cerebral atrophy, Tachypnea |
OMIM:614857 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Camptodactyly of finger, Diastomatomyelia, Meningocele |
ORPHA:1759 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Poliomyelitis |
|
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Myelitis, Lower limb muscle w... |
ORPHA:2912 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Ragged-red muscle fibers, Diffuse cerebellar atrophy |
ORPHA:477774 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal posturing |
ORPHA:157941 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:276950 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
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 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Alg1-Cdg |
|
Respiratory failure, Cerebral atrophy, Cerebellar atrophy |
ORPHA:79327 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
Spastic Paraplegia Type 7 |
|
Cerebral cortical atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, Cerebellar atrop... |
ORPHA:99013 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... |
OMIM:156530 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Respiratory paralysis |
ORPHA:681 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Weakness of facial musculature, Death in childhood, Increased intramyocellu... |
OMIM:220110 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:618233 |
Congenital Tricuspid Valve Dysplasia |
|
Right ventricular hypertrophy, Cyanosis, Respiratory failure requiring assisted ventilation, Tach... |
ORPHA:555874 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Cyanosis, Neona... |
ORPHA:95430 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... |
ORPHA:98853 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Abnormal posturing, Cough |
ORPHA:216866 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Hsd10 Disease, Infantile Type |
|
Cerebral atrophy, Cyanosis, Neurodegeneration, Diffuse cerebral atrophy, Frontotemporal cerebral ... |
ORPHA:391428 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Cerebral atrophy, Chylothorax, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Death in... |
OMIM:619036 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased intramyocellular lipid droplets, Rhabdomyolysis, Respiratory failure, Restrictive venti... |
ORPHA:26791 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Cerebellar atrophy, Lower limb hypertonia |
OMIM:610246 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency, Cyanosis |
ORPHA:159 |
Peripartum Cardiomyopathy |
|
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertiona... |
ORPHA:563 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Niemann-Pick Disease, Type C2 |
|
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... |
OMIM:607625 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Myopathy |
OMIM:609015 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Respiratory failure, Head titubation |
ORPHA:3240 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Resp... |
ORPHA:308552 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... |
ORPHA:335 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... |
ORPHA:449280 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Atrophy/Degeneration in... |
ORPHA:70595 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Myositis |
ORPHA:3165 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Respiratory insufficiency, Cyanosis, Increased intramyocellular lipid droplets, Ragged-red... |
OMIM:252010 |
Japanese Encephalitis |
|
Respiratory distress, Hyperintensity of MRI T2 signal of the spinal cord, Irregular respiration, ... |
ORPHA:79139 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Dyspnea, Sk... |
OMIM:615418 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure |
ORPHA:99931 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Respiratory insufficiency, Lower limb muscle weakness, Skeletal myo... |
ORPHA:746 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Neurodegeneration, Distal amyotrophy, Abnormal lower motor neuron morphology, Cerebellar atrophy,... |
OMIM:614298 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... |
ORPHA:199241 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ve... |
OMIM:612949 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Cyanosis, Tachyp... |
ORPHA:60025 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Increased muscle lipid content, Elbow flexion contracture, Deat... |
OMIM:608836 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:273730 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral cortical atrophy, Respiratory failure requiring assisted ventilation, Respiratory failur... |
ORPHA:496641 |
Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality... |
ORPHA:79083 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, Cerebral atrophy |
OMIM:261680 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Hypomimic face, Abnormal posturing |
ORPHA:225147 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... |
OMIM:157640 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Right ventricular hypertrophy, Cyanosis, Crackles, Elevated pulmon... |
ORPHA:1329 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... |
ORPHA:2038 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, Myositis, Cough, Purpur... |
ORPHA:183 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Cyanotic episode |
ORPHA:284417 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Cardiorespiratory arrest, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Deat... |
OMIM:619424 |
Tetrasomy 5P |
|
Respiratory distress, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arterial hy... |
ORPHA:3309 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Camptodactyly |
OMIM:618804 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure, Cerebral atrophy |
OMIM:619847 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... |
ORPHA:206569 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... |
ORPHA:244 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Limb hypertonia, Cerebellar atrophy, Cyanosis |
OMIM:619580 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Arthrogryposis multiplex ... |
OMIM:617301 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Right ventricular hypertrophy |
ORPHA:860 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Rhabdomyolysis, Death in childhood, Respiratory failure, Respiratory insufficiency |
OMIM:610505 |
Native American Myopathy |
|
Muscle fiber atrophy, Respiratory insufficiency, Abnormality of skeletal muscle fiber size, Campt... |
ORPHA:168572 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Cyanosis, Macroglossia |
OMIM:261740 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Infantile Krabbe Disease |
|
Diffuse cerebral atrophy, Shoulder girdle muscle weakness, Respiratory failure, Respiratory distress |
ORPHA:206436 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Wrist flexion ... |
ORPHA:254528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Respiratory failure |
OMIM:616538 |
Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Respiratory distress, Sleep apnea, Macroglossia,... |
ORPHA:365 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Respiratory failure |
ORPHA:88618 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Left ventricular hypertrophy, Cyanosis, Abnormal respiratory system physiolog... |
ORPHA:99106 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Ragged-red muscle fibers |
ORPHA:1349 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Dravet Syndrome |
|
Global brain atrophy, Cyanotic episode |
ORPHA:33069 |
Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
Bickerstaff Brainstem Encephalitis |
|
Weakness of facial musculature, Facial paralysis, Hypercapnia, Respiratory failure requiring assi... |
ORPHA:79138 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger |
OMIM:614407 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure, Cerebral atrophy, Cerebellar atrophy |
ORPHA:445038 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Central hypoventilation, Respiratory failure, Global brain atrophy |
ORPHA:70474 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Leigh Syndrome |
|
Multiple joint contractures, Respiratory failure, Cerebellar atrophy, Abnormal pattern of respira... |
ORPHA:506 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Cerebral atrophy, Limb hypertonia, Facial palsy, Respiratory failure |
OMIM:259720 |
Polymyositis |
|
Exertional dyspnea, Respiratory insufficiency, Abnormal muscle fiber morphology, Cough |
ORPHA:732 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy |
OMIM:609286 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Abnormal posturing |
OMIM:242840 |
Absence Of The Pulmonary Artery |
|
Nonproductive cough, Cyanosis, Orthopnea, Abnormal hemidiaphragm morphology, Recurrent pneumonia,... |
ORPHA:980 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... |
ORPHA:420741 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Respiratory failure, Fragile skin |
ORPHA:158687 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, Lip telan... |
OMIM:187300 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis, Decreased muscle mass |
ORPHA:349 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Bruising susceptibility, Proximal amyotrophy |
OMIM:606408 |
Unilateral Polymicrogyria |
|
Apnea, Cyanosis, Epistaxis, Abnormal posturing |
ORPHA:268943 |
Rare Circulatory System Disease |
|
Cyanosis, Elbow flexion contracture |
ORPHA:98028 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Facial palsy |
ORPHA:31826 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Spinal arteriovenous malformation, Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent ... |
OMIM:610655 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure, Cerebellar atrophy |
OMIM:618329 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Myositis |
ORPHA:589 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... |
ORPHA:209905 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... |
ORPHA:502423 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Cerebral atrophy, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Glycogen Storage Disease Xii |
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Increased variability in muscle fiber diameter, Jaundice, Muscle fiber splitting, Myopathy |
OMIM:611881 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Cyanosis |
ORPHA:3304 |
Hereditary Bullous Dystrophy, Macular Type |
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