| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Respiratory insufficiency due to muscle weakness, Distal amyotrophy, Abnormal lower motor neuron ... |
OMIM:602099 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... |
OMIM:614373 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... |
OMIM:607641 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Facial hypotonia, Abnormal respiratory s... |
ORPHA:266 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Proximal amyotrophy |
OMIM:608030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Flexion contracture, Centrall... |
OMIM:608423 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal amyotrophy |
OMIM:271150 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... |
OMIM:208081 |
| Amyotrophic Lateral Sclerosis 19 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Sleep apnea, Degeneration of anterior horn cell... |
OMIM:105400 |
| Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... |
OMIM:611369 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... |
OMIM:167320 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... |
OMIM:608358 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:613954 |
| Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy |
OMIM:253550 |
| Hereditary Myopathy With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Restrictive ventilatory defect, Foot dorsiflexor weakness, Dyspnea,... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... |
OMIM:254110 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... |
OMIM:602433 |
| Tibial Muscular Dystrophy |
|
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... |
ORPHA:609 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... |
ORPHA:2593 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... |
OMIM:616437 |
| Spinal Muscular Atrophy, Type Iii |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy |
OMIM:253400 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... |
OMIM:301830 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... |
OMIM:617158 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
| Central Core Disease Of Muscle |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... |
OMIM:117000 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle ... |
OMIM:612069 |
| Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... |
OMIM:619178 |
| Vacuolar Neuromyopathy |
|
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... |
OMIM:601846 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Resp... |
OMIM:611067 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Congenit... |
OMIM:607596 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... |
OMIM:300717 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... |
OMIM:618655 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Cough, Muscular dystrophy, Centrally nucleated skeletal muscle fib... |
ORPHA:86812 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro... |
OMIM:606070 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... |
ORPHA:1145 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy |
ORPHA:65684 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Cerebral cortical atroph... |
OMIM:616081 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Obstructive sleep apnea, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predomin... |
OMIM:618823 |
| Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... |
OMIM:253300 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Global brain atrophy, Central apnea, Respiratory insufficiency, Respiratory failure, Death in chi... |
OMIM:611722 |
| Gne Myopathy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... |
ORPHA:602 |
| Lethal Congenital Contracture Syndrome 4 |
|
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... |
OMIM:614915 |
| Nemaline Myopathy 8 |
|
Flexion contracture, Death in infancy, Nemaline bodies, Respiratory failure, Facial palsy, Myofib... |
OMIM:615348 |
| Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... |
OMIM:616852 |
| Muscular Dystrophy, Congenital, 1B |
|
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... |
OMIM:604801 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... |
OMIM:255160 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal... |
OMIM:105550 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency |
OMIM:617232 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Abnormal respiratory system physiology, Neurodegeneration, Amyotrophic lateral sclerosis... |
ORPHA:803 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Respi... |
OMIM:609524 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Foot dorsiflexor weakness, Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle wea... |
OMIM:603689 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... |
ORPHA:611 |
| Myopathy, Centronuclear, 1 |
|
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... |
OMIM:160150 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Cerebral atrophy, Res... |
OMIM:611890 |
| 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 |
|
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter |
OMIM:618992 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... |
OMIM:613530 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... |
OMIM:158600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... |
OMIM:601954 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Spinal muscular atrophy, Progressive distal muscular atrophy, Degeneration of anterior horn cells... |
OMIM:159950 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... |
OMIM:605820 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... |
OMIM:618848 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Respiratory insufficiency d... |
ORPHA:600 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron... |
ORPHA:52430 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Cerebral atrophy, Respiratory failure, Degeneration of anterior horn cells, Respiratory insuffici... |
OMIM:600333 |
| Myopathy, Distal, 5 |
|
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting |
OMIM:617030 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... |
OMIM:255320 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Weak... |
ORPHA:98913 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Res... |
OMIM:255310 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... |
OMIM:615422 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Respirator... |
OMIM:619334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... |
OMIM:609115 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... |
OMIM:604320 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Centrally nucleated skeletal ... |
OMIM:618484 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... |
OMIM:609456 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... |
OMIM:618654 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Chronic pulmo... |
ORPHA:437572 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... |
OMIM:617066 |
| Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:608627 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Proximal muscle weakne... |
ORPHA:457050 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Oculopharyngodistal Myopathy 2 |
|
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... |
OMIM:618940 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Internally nu... |
ORPHA:324581 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Neonatal respiratory distress, Increased intramyocellular lipid droplets, Weakness of facial musc... |
OMIM:619062 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
EMG: myopathic abnormalities, Facial diplegia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:399058 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Lethal Congenital Contracture Syndrome 1 |
|
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop... |
OMIM:253310 |
| Salih Myopathy |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... |
OMIM:611705 |
| Cholesterol Pneumonia |
|
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis |
OMIM:215030 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... |
ORPHA:206549 |
| Myopathy, Centronuclear, 2 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... |
OMIM:255200 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... |
ORPHA:370968 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... |
ORPHA:486815 |
| Distal Myopathy, Welander Type |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... |
ORPHA:603 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Scapular winging, Respiratory insufficiency |
ORPHA:2901 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Proximal amyotrophy |
OMIM:604484 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, R... |
ORPHA:90117 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... |
OMIM:618291 |
| Adult-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... |
ORPHA:171442 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Rimmed vacuoles, Flexion contracture, Respiratory insufficiency |
OMIM:300696 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... |
OMIM:500002 |
| Intermediate Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... |
ORPHA:171433 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Cerebral atrophy, Respiratory insufficiency, Cerebellar atrophy, Increased neuronal autofl... |
OMIM:610127 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... |
ORPHA:34516 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... |
OMIM:160565 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... |
OMIM:613204 |
| Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:615911 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... |
OMIM:615368 |
| Myopathy, Myofibrillar, 8 |
|
Restrictive ventilatory defect, Scapular winging, Centrally nucleated skeletal muscle fibers, Joi... |
OMIM:617258 |
| Nemaline Myopathy 2 |
|
Apnea, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Fatty replacement of ske... |
OMIM:256030 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619133 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... |
ORPHA:598 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... |
ORPHA:2590 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... |
OMIM:614399 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 m... |
ORPHA:169186 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Respiratory failure |
OMIM:616794 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Cerebral atrophy, Respiratory failure, Weakness of facial musculature |
OMIM:618637 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Spasticity of facial muscles |
OMIM:606353 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... |
ORPHA:98905 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Dyspnea, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle ... |
OMIM:603511 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... |
ORPHA:401768 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... |
OMIM:615424 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... |
ORPHA:75840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... |
OMIM:253601 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Respiratory distress, Respiratory insufficiency, ... |
ORPHA:238329 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Respiratory failure, Limb muscle weakness |
OMIM:600561 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... |
OMIM:608810 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Resp... |
ORPHA:254875 |
| Autosomal Dominant Centronuclear Myopathy |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... |
ORPHA:169189 |
| Distal Myopathy, Tateyama Type |
|
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... |
ORPHA:488650 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Cyanosis, Respiratory distress |
ORPHA:91130 |
| Nemaline Myopathy 1 |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Respiratory in... |
OMIM:609284 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Respiratory failure |
OMIM:301021 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
| Hyperekplexia 4 |
|
Camptodactyly, Cerebral atrophy, Flexion contracture, Distal arthrogryposis, Respiratory failure |
OMIM:618011 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Respiratory distress, Flexion contracture, Degeneration of anterior horn c... |
OMIM:271225 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... |
OMIM:618138 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Reduced vital capacity, Skeletal muscle atrophy |
OMIM:617760 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy |
ORPHA:270 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... |
OMIM:248800 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Chiari Malformation Type Ii |
|
Spina bifida, Inspiratory stridor, Cervical myelopathy, Syringomyelia, Cyanosis, Myelomeningocele... |
OMIM:207950 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... |
OMIM:616867 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Cerebellar a... |
ORPHA:352447 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the lower limbs, Head titubation, Amyotrophic lateral sclerosis, Di... |
ORPHA:300605 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... |
OMIM:605355 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... |
OMIM:616924 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Respiratory insufficiency due to muscle weakness, Increased variability in m... |
OMIM:300718 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Cerebellar atrophy, Distal amyotrophy, Spinocerebellar at... |
OMIM:215470 |
| Nemaline Myopathy 4 |
|
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... |
OMIM:609285 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... |
ORPHA:276435 |
| Childhood-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... |
ORPHA:171439 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased muscle lipid con... |
ORPHA:254864 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Cerebral atrophy, Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neo... |
OMIM:245400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... |
OMIM:612937 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis |
OMIM:263000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... |
OMIM:616812 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle atrophy, Degeneration of anterior horn cells, Central hypoventilation, Peroneal m... |
OMIM:118301 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... |
OMIM:616052 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Myelitis, Neuronal loss in central nervous system |
ORPHA:71211 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... |
OMIM:500009 |
| Myopathy, Distal, 1 |
|
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... |
OMIM:160500 |
| Zebra Body Myopathy |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... |
ORPHA:97240 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Abnormal lower motor neur... |
ORPHA:275872 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... |
OMIM:617072 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Laryngotracheal Angioma |
|
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor |
ORPHA:137935 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy |
OMIM:618129 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Nocturnal hypoventilation, Incr... |
OMIM:616470 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... |
ORPHA:399086 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Knee flexion contracture, Respiratory insufficiency |
OMIM:313420 |
| Asbestos Intoxication |
|
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... |
ORPHA:2302 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy |
OMIM:300816 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Rigid Spine Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrop... |
OMIM:602771 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
EMG: myopathic abnormalities, Cerebral atrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:609560 |
| Central Core Disease |
|
Central core regions in muscle fibers, Respiratory insufficiency due to muscle weakness, Pelvic g... |
ORPHA:597 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Aspiration pneumonia, Cerebral atrophy, Respiratory failure |
OMIM:619057 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... |
OMIM:265120 |
| Ane Syndrome |
|
Generalized amyotrophy, Motor neuron atrophy, Multiple joint contractures |
ORPHA:157954 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Restrictive ventilatory defect, Respiratory insufficiency due to muscle... |
ORPHA:663 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... |
OMIM:616816 |
| Cryptogenic Organizing Pneumonia |
|
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... |
ORPHA:1302 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... |
OMIM:254210 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... |
ORPHA:353 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Respi... |
OMIM:607855 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Cerebral atrophy, Death in infancy, Apnea |
OMIM:617248 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Respiratory insufficienc... |
OMIM:603034 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Skeletal muscle atrophy |
ORPHA:2400 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Sudden episodic apnea, Respiratory distress, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Amish Nemaline Myopathy |
|
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... |
ORPHA:98902 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Progressive Non-Fluent Aphasia |
|
Senile plaques, Temporal cortical atrophy, Abnormal lower motor neuron morphology, Frontotemporal... |
ORPHA:100070 |
| Machado-Joseph Disease Type 3 |
|
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Degeneration of anter... |
ORPHA:276244 |
| Myopathy, Distal, 3 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... |
OMIM:610099 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... |
OMIM:254090 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Shoulder girdle muscle atrophy, Intercostal muscle weakness, Hand muscle atrophy, Distal amyotrop... |
OMIM:606071 |
| Avian Influenza |
|
Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Nonproductive cough, Rhabdomyol... |
ORPHA:454836 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure, Muscle fiber nec... |
ORPHA:449285 |
| Severe Congenital Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... |
ORPHA:171430 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Cerebral atrophy, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:605711 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cerebral atrophy, Respiratory failure, Reduced subcutaneous adipose tissue, Myopathy, Caudate atr... |
ORPHA:363400 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... |
OMIM:610921 |
| Laryngotracheoesophageal Cleft |
|
Dyspnea, Cough, Neonatal respiratory distress, Cyanosis, Stridor, Aspiration |
ORPHA:2004 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Dyspnea, Limb muscle weakness, Respiratory insufficiency |
OMIM:606842 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Cerebral cortical atrophy, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:228940 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal hemidiaphragm morphology, ... |
ORPHA:2257 |
| Myopathy, Myofibrillar, 7 |
|
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... |
OMIM:617114 |
| Myasthenic Syndrome, Congenital, 14 |
|
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture |
OMIM:616228 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... |
OMIM:253700 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... |
ORPHA:723 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Neonatal respiratory distress, Cerebellar atrophy, Respiratory failure |
ORPHA:168486 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... |
OMIM:610913 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis |
ORPHA:70587 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
| Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Respiratory arrest, EMG: myopathic abnormalities, Episodic respirato... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Respiratory arrest, EMG: myopathic abnormalities, Episodic respirato... |
ORPHA:98914 |
| Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Poor wound healing, Congenital finger flexion contractures, Congenital mus... |
ORPHA:536516 |
| Proximal Spinal Muscular Atrophy |
|
Restrictive ventilatory defect, Hypoventilation, Facial diplegia, Flexion contracture, Quadriceps... |
ORPHA:70 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Respiratory failure, Death in infancy, Brain atrophy |
OMIM:617186 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... |
OMIM:310400 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... |
OMIM:310200 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Respiratory insufficiency, Proximal amyotrophy |
OMIM:612999 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy |
OMIM:221770 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Right ventricular hypertrophy, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertro... |
ORPHA:444013 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis, Skeletal muscle atrophy |
OMIM:252320 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormality of masticatory muscle, Cerebellar atrophy, Respiratory failure, Skeletal muscle atrop... |
ORPHA:98755 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... |
OMIM:181405 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture |
OMIM:605637 |
| Bethlem Myopathy |
|
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Reduced ma... |
ORPHA:610 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis |
OMIM:610910 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... |
ORPHA:79126 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord |
ORPHA:35689 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... |
ORPHA:2414 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Typical Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Respiratory insufficien... |
ORPHA:171436 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency |
ORPHA:93941 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... |
OMIM:258450 |
| Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Arnold-Chiari Malformation Type Ii |
|
Apnea, Inspiratory stridor, Pneumonia, Meningocele, Hand muscle atrophy, Syringomyelia, Cyanosis,... |
ORPHA:1136 |
| Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Restrictive ventilatory defect, Foot dorsiflexor weakness, Hypercap... |
OMIM:164310 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Hypoventilation, Congenital muscular dystrophy, Pontocerebellar atrophy, Muscular d... |
ORPHA:258 |
| Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Increased muscle lipid content, Congenital muscular dystrophy, Ge... |
ORPHA:324604 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Death in infancy, Cerebral cortical atrophy, Respir... |
ORPHA:1194 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy |
OMIM:607598 |
| Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... |
ORPHA:36238 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Creatine Phosphokinase, Elevated Serum |
|
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Cerebellar atrophy |
OMIM:607694 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... |
OMIM:613845 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... |
ORPHA:353327 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness |
OMIM:601162 |
| Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Frontal cortical atrophy, Global brain atrophy, Exertional dyspnea, Ce... |
ORPHA:621 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... |
ORPHA:329478 |
| Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Lower limb muscle weakness, Central hypoventilation, Generalize... |
ORPHA:171881 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Tachypnea, Cerebral atrophy, Abnormal posturing |
OMIM:614857 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal morphology of musculature of pharynx, Lower limb amyotrophy, Respiratory failure, Tituba... |
ORPHA:280210 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... |
ORPHA:119 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Flexion contracture, Respiratory failure, Distal amyotrophy |
OMIM:616505 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... |
ORPHA:397744 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Flexion contracture, Ank... |
ORPHA:2020 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Scapular winging, Ragged-red muscle fibers, Cerebral atrophy, Cerebellar at... |
ORPHA:254886 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Acute Lung Injury |
|
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia |
ORPHA:178320 |
| Poliomyelitis |
|
Myelitis, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Hypopla... |
ORPHA:2912 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Diastomatomyelia, Respiratory insufficiency |
ORPHA:1759 |
| Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Hypercapnia, Respiratory failure, Respiratory insufficiency |
OMIM:267480 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Diffuse cerebral atrophy, Diffuse cerebellar atrophy |
ORPHA:477774 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Respiratory failure requiring assisted ventilation, Flexion contracture, Increased variability in... |
OMIM:619026 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Respiratory paralysis |
ORPHA:681 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Respiratory insufficiency, Increased variability in muscle fibe... |
OMIM:619173 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Generalized abnormality of skin, Respiratory distress, Abnormal... |
ORPHA:367 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Restrictive ventilatory defect, Scapular winging, Dyspnea, Cardiorespiratory arrest, Increased in... |
ORPHA:26791 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Muscle fiber necrosis, ... |
OMIM:607459 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content |
OMIM:610717 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal posturing |
ORPHA:157941 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Leigh Syndrome |
|
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration |
OMIM:256000 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Adult Acute Respiratory Distress Syndrome |
|
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia |
ORPHA:70578 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis |
ORPHA:747 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Myositis, Muscular edema |
ORPHA:3165 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98853 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Right ventricular hypert... |
ORPHA:555874 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
| Choanal Atresia |
|
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... |
ORPHA:137914 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Neurodegeneration, Abnormal lower motor neuron morphology, Cerebellar atrophy, ... |
OMIM:614298 |
| Spastic Paraplegia Type 7 |
|
Lower limb hypertonia, Lower limb muscle weakness, Cerebral cortical atrophy, Cerebellar atrophy,... |
ORPHA:99013 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... |
OMIM:616866 |
| Hsd10 Disease, Infantile Type |
|
Neurodegeneration, Cerebral atrophy, Frontotemporal cerebral atrophy, Cyanosis, Diffuse cerebral ... |
ORPHA:391428 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Camptodactyly of finger, Tracheomalacia, Atelectasis |
ORPHA:896 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebral atrophy, Respiratory failure |
OMIM:615838 |
| Acquired Methemoglobinemia |
|
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress |
ORPHA:464453 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Abnormal posturing |
OMIM:128100 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 1 muscle fiber atrophy, Cerebral atrophy, Death in infancy, Congenital contracture, Neonatal... |
OMIM:619036 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... |
OMIM:252011 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory distress, Increased muscle lipid content, Respiratory insufficiency, Respirato... |
OMIM:608836 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... |
ORPHA:98855 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Abnormal posturing |
ORPHA:216866 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Acrocyanosis, Purpura, Cough, Respiratory insufficiency, Cutis marmorata, Asthma, Sinusitis, Cent... |
ORPHA:183 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Myopathy, Rhabdomyolysis, Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle p... |
ORPHA:79083 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Knee flexion contracture, Ankle flexion contracture, Limb joint contracture |
ORPHA:284417 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Respiratory failure, Head titubation |
ORPHA:3240 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Atrophy/Degeneration in... |
ORPHA:70595 |
| Peripartum Cardiomyopathy |
|
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... |
ORPHA:563 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... |
ORPHA:308552 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Lower limb muscle weakness, Respiratory insufficiency, Skeletal myopathy, Respira... |
ORPHA:746 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2759 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... |
ORPHA:57 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, Cerebral atrophy |
OMIM:261680 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Scedosporiosis |
|
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... |
ORPHA:449280 |
| Hemangiomatosis, Cutaneous, With Associated Features |
|
Acrocyanosis, Spinal cord tumor |
OMIM:234800 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Hyperintensity of MRI T2 signal of the spinal cord, ... |
ORPHA:79139 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Pulmonary Capillary Hemangiomatosis |
|
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... |
ORPHA:199241 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:273730 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... |
OMIM:157640 |
| Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous hemorrhage, Cyanosis, B... |
ORPHA:335 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
EMG: myopathic abnormalities, Macroglossia, Sleep apnea, Facial hypotonia, Respiratory distress, ... |
ORPHA:365 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Arthrogryposis multiplex congenita, Respiratory failure requiring assisted ventilation, Cerebral ... |
ORPHA:496641 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory failure, Hip contract... |
OMIM:617301 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy |
OMIM:540000 |
| Immune-Mediated Necrotizing Myopathy |
|
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... |
ORPHA:206569 |
| Pulmonary Arteriovenous Malformation |
|
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... |
ORPHA:2038 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Abnormal posturing, Hypomimic face |
ORPHA:225147 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Right vent... |
ORPHA:1329 |
| Sandestig-Stefanova Syndrome |
|
Camptodactyly, Respiratory failure |
OMIM:618804 |
| Cryptosporidiosis |
|
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia |
ORPHA:1549 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cerebral atrophy, Respiratory failure, Stillbirth |
OMIM:259720 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory failure, Death in childhood, Rhabdomyolysis, Respiratory insufficiency |
OMIM:610505 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Respirato... |
ORPHA:244 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger |
OMIM:614407 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Native American Myopathy |
|
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Respiratory insufficie... |
ORPHA:168572 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe |
OMIM:175700 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, ... |
ORPHA:3309 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... |
ORPHA:254528 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Cyanosis, Myopathy |
OMIM:261740 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... |
ORPHA:90051 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion |
ORPHA:542323 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Respiratory failure |
OMIM:616538 |
| Infantile Krabbe Disease |
|
Shoulder girdle muscle weakness, Diffuse cerebral atrophy, Respiratory failure, Respiratory distress |
ORPHA:206436 |
| Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Abnormal mitochondria in muscle tissue, Cerebellar atrophy, Respirator... |
OMIM:252010 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Decreased muscle mass |
ORPHA:349 |
| Leigh Syndrome With Cardiomyopathy |
|
Apnea, Respiratory distress, Global brain atrophy, Central hypoventilation, Respiratory failure |
ORPHA:70474 |
| Mercury Poisoning |
|
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis |
ORPHA:330021 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Left ventricular hypertrophy, Pulmonar... |
ORPHA:99106 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dyspnea |
ORPHA:1349 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Cerebral atrophy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Respiratory failure |
ORPHA:88618 |
| Aicardi-Goutieres Syndrome 1 |
|
Acrocyanosis, Purpura, Cerebral atrophy, Prolonged neonatal jaundice, Petechiae |
OMIM:225750 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
| Dravet Syndrome |
|
Cyanotic episode, Global brain atrophy |
ORPHA:33069 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Cerebral atrophy, Limb muscle weakness |
OMIM:609286 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Myasthenia Gravis |
|
Acrocyanosis, Myositis, Dyspnea |
ORPHA:589 |
| Leigh Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Respiratory failure, Skeletal muscle atrophy, Ab... |
ORPHA:506 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Abnormal posturing |
OMIM:242840 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... |
ORPHA:502423 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Cough, Respiratory insufficiency, Exertional dyspnea |
ORPHA:732 |
| Lethal Acantholytic Erosive Disorder |
|
Fragile skin, Respiratory failure, Camptodactyly of toe |
ORPHA:158687 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Recurrent sinus... |
ORPHA:420741 |
| Niemann-Pick Disease, Type C2 |
|
Prolonged neonatal jaundice, Respiratory failure, Respiratory insufficiency |
OMIM:607625 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy |
ORPHA:3068 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Death in infancy, Congenital contr... |
OMIM:613150 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... |
ORPHA:99103 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... |
OMIM:610655 |
| Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration, Tachypnea, Cyanosis |
ORPHA:31826 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Urticaria, Erythema |
ORPHA:343 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Bruising susceptibility, Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Unilateral Polymicrogyria |
|
Apnea, Cyanosis, Abnormal posturing, Epistaxis |
ORPHA:268943 |
| Rare Circulatory System Disease |
|
Cyanosis, Elbow flexion contracture |
ORPHA:98028 |
| Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3426 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory failure, Asthma, Recurrent pneum... |
ORPHA:209905 |
| Radio-Renal Syndrome |
|
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax |
ORPHA:3015 |
| Neuromuscular Oculoauditory Syndrome |
|
EMG: myopathic abnormalities, Respiratory distress, Wrist flexion contracture, Knee flexion contr... |
OMIM:618733 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Sleep apnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... |
OMIM:187300 |
| Poems Syndrome |
|
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... |
ORPHA:2905 |
| Arterial Tortuosity Syndrome |
|
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Telangiecta... |
ORPHA:3342 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Respiratory failure, Rhabdomyosarcoma, Skeletal muscle atrophy, Cutaneous ph... |
ORPHA:647 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Cyanosis |
ORPHA:488627 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Apnea, Increased intramyocellular lipid droplets, Respiratory distress, Cerebral atrophy, Flexion... |
ORPHA:17 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... |
ORPHA:298 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax |
OMIM:266910 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal amyotrophy, Death in early adulthood |
OMIM:603041 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Telangiectasia of the skin |
ORPHA:679 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Cerebellar atrophy |
OMIM:607426 |
| Niemann-Pick Disease Type C |
|
Frontal cortical atrophy, Cerebral atrophy, Respiratory insufficiency, Jaundice, Cerebellar vermi... |
ORPHA:646 |
| Myopathy, Mitochondrial, And Ataxia |
|
Distal amyotrophy, Increased variability in muscle fiber diameter |
OMIM:617675 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... |
ORPHA:99104 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fingerpad tela... |
OMIM:600376 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
EMG: myopathic abnormalities, Restrictive ventilatory defect, Wrist drop, Decreased muscle mass, ... |
ORPHA:1900 |
| Dermatomyositis |
|
Acrocyanosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema, Inflammatory myopa... |
ORPHA:221 |
| Listeriosis |
|
Respiratory distress, Rhabdomyolysis, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
| Esophageal Atresia |
|
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Abetalipoproteinemia |
|
Myopathy, Distal lower limb muscle weakness, Respiratory failure |
ORPHA:14 |
| Congenital Tracheal Stenosis |
|
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis |
ORPHA:141127 |
| Myhre Syndrome |
|
Skeletal muscle hypertrophy, Camptodactyly, Respiratory insufficiency, Respiratory failure, Gener... |
OMIM:139210 |
| Bloom Syndrome |
|
Chronic pulmonary obstruction, Pneumonia, Respiratory failure, Rhinitis, Cutaneous photosensitivi... |
ORPHA:125 |
| Nocardiosis |
|
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... |
ORPHA:31204 |
| Atrioventricular Septal Defect 3 |
|
Pulmonary arterial hypertension, Cyanosis |
OMIM:600309 |
| Costello Syndrome |
|
Macroglossia, Cerebral atrophy, Tracheomalacia, Respiratory insufficiency, Achilles tendon contra... |
OMIM:218040 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
EMG: myopathic abnormalities, Hypomimic face, Exertional dyspnea, Ragged-red muscle fibers, Quadr... |
ORPHA:254892 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Restrictive ventilatory defect, Flexion contracture of thumb, Macroglossia, Diastasis recti, Camp... |
ORPHA:96334 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dyspnea, Respiratory distress, Erythema, Respiratory failure, Congenital diaphragmatic hernia |
ORPHA:2556 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the shoulder girdle musculature, Dyspnea, Increased muscle lipid content, Skeletal... |
ORPHA:565612 |
| Aicardi-Goutières Syndrome |
|
Acrocyanosis, Brain atrophy, Prolonged neonatal jaundice, Degeneration of the striatum, Multiple ... |
ORPHA:51 |
| Ear-Patella-Short Stature Syndrome |
|
