| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... |
OMIM:608423 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Scapular winging, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Respirator... |
OMIM:617232 |
| Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... |
ORPHA:178464 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... |
OMIM:612999 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Respiratory insufficiency, Muscle fiber cytoplasmatic inclusion bodies, Mu... |
OMIM:609524 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Calf... |
OMIM:619178 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... |
OMIM:181400 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally nucleated skel... |
OMIM:608358 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... |
OMIM:619042 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... |
OMIM:620265 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... |
OMIM:614915 |
| Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... |
ORPHA:86812 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit... |
OMIM:617066 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... |
OMIM:617072 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... |
ORPHA:596 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Reduced forced vital capacity, Limb-girdle... |
OMIM:620386 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... |
ORPHA:309169 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... |
ORPHA:324581 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers... |
OMIM:255160 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... |
OMIM:619334 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:618654 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency... |
OMIM:300696 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... |
OMIM:255310 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Respiratory insufficiency,... |
OMIM:160565 |
| Congenital Myopathy 3 With Rigid Spine |
|
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... |
OMIM:602771 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
ORPHA:399058 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... |
ORPHA:238329 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:300718 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... |
OMIM:255200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula... |
ORPHA:276435 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... |
ORPHA:598 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... |
OMIM:300580 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... |
OMIM:619518 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Centrally nucleated skeletal muscle fibers, Dystonia, Increased variability in mu... |
ORPHA:401768 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respiratory insufficienc... |
ORPHA:486815 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, R... |
OMIM:619566 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Respiratory insufficiency, Centrally nucleated s... |
OMIM:615959 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Respiratory insufficiency, Proximal amyotr... |
OMIM:605355 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
| Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In... |
ORPHA:171442 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Restricti... |
OMIM:253700 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... |
OMIM:619473 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Flexion contracture, Facial di... |
OMIM:609285 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Upper limb muscle weakness, ... |
ORPHA:90117 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Dyspnea, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, ... |
OMIM:603511 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure, Hypoplasia of the capital femoral... |
OMIM:600561 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171433 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... |
OMIM:615368 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Respiratory insufficiency due t... |
OMIM:606070 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Respiratory insufficiency, Facial diplegia, EM... |
OMIM:609284 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Achilles te... |
OMIM:617258 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Reduced forced vital capacity, Macrogl... |
OMIM:616052 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Stridor, Clubb... |
OMIM:619574 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
| Myopathy, Myofibrillar, 2 |
|
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... |
OMIM:608810 |
| Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... |
ORPHA:171445 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness... |
OMIM:310440 |
| Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Re... |
OMIM:616165 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Respiratory insufficiency due to muscle weakness, Fa... |
OMIM:611890 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... |
ORPHA:399086 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... |
OMIM:620249 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Dystonia |
OMIM:619065 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... |
OMIM:616816 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Ragged-red muscle fibers, Dystonia |
OMIM:615159 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... |
OMIM:616470 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Increased endomysial connective tissue, Flexion... |
OMIM:607855 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Reduced forced vital capacity, Increased variability in mus... |
OMIM:620161 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Apnea, Thenar muscle atrophy, Fatty repla... |
OMIM:256030 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Central Core Disease |
|
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... |
ORPHA:597 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Death in infancy, Death in childhood |
OMIM:614096 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Myopathy, Neo... |
OMIM:300219 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... |
OMIM:248800 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability... |
OMIM:226670 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Type 1 muscle fiber pr... |
OMIM:618276 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Craniofacial dystonia, Pl... |
OMIM:620011 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Facial diplegia, Hammertoe, Distal amyotrophy, Distal arth... |
OMIM:616287 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
| Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Respiratory insufficiency |
OMIM:615731 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:424107 |
| Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Respiratory insufficiency due to muscle weakness, Knee flex... |
OMIM:610687 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,... |
OMIM:609560 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Limb muscle weakness, Nemaline bodies, Respiratory insufficiency |
OMIM:606842 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... |
OMIM:620278 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexi... |
ORPHA:171439 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Re... |
OMIM:603034 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Respiratory i... |
OMIM:254090 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis, Apnea |
OMIM:617235 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
ORPHA:34515 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies, Intrauterine growth retardation |
OMIM:618246 |
| Congenital Myopathy 24 |
|
Scapular winging, Reduced vital capacity, Facial palsy, Talipes equinovarus, Type 1 muscle fiber ... |
OMIM:617336 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... |
ORPHA:352447 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers |
OMIM:500003 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Respira... |
OMIM:615352 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Ventil... |
OMIM:604320 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial musculature |
OMIM:618416 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex ... |
ORPHA:178148 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Strid... |
OMIM:606071 |
| Hyperekplexia 4 |
|
Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinovarus, Camptodacty... |
OMIM:618011 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Ragged-red musc... |
ORPHA:663 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614100 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... |
OMIM:245400 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation, EMG: my... |
OMIM:620326 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Tremor, Flexion contracture, Respiratory failur... |
ORPHA:2590 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Hammertoe, Ulnar claw,... |
OMIM:607684 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Upper limb muscle weakness, Distal amyotrophy, Respiratory insufficiency |
OMIM:605253 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, I... |
OMIM:601462 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Myopathy, Increased variability in muscle fiber dia... |
ORPHA:397744 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... |
OMIM:617519 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Weak... |
OMIM:608930 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
| Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... |
ORPHA:2254 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... |
ORPHA:324604 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital capacity, Fatt... |
ORPHA:329478 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien... |
OMIM:313420 |
| Cap Myopathy |
|
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Lower limb amyotrophy, G... |
ORPHA:171881 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Dystonia |
OMIM:610246 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... |
ORPHA:206559 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness,... |
OMIM:613561 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Respiratory... |
OMIM:161800 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Dyspnea, Ragged-red muscle fibers, Respiratory insufficiency, Proximal amyotrophy, ... |
OMIM:615084 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Increased variability in muscle fiber diameter, Flexion contracture, Respiratory ... |
OMIM:619026 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:615524 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Femur fracture, Ulnar deviat... |
OMIM:618291 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Upper limb postural tremor |
ORPHA:477774 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Inability to walk, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Gait i... |
ORPHA:63273 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Tremor |
OMIM:619028 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Flexion contracture, 2-3 toe syndactyly, Respiratory insufficiency, Facia... |
OMIM:618186 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Bronchiectasis, Small thenar eminence, Distal lower limb muscle weakness, Tendo... |
OMIM:620080 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Respiratory ins... |
OMIM:619173 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... |
OMIM:619461 |
| Snakebite Envenomation |
|
Epistaxis, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy, Absent muscle dys... |
ORPHA:206546 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Prenatal death, Camptodactyly, Neonatal death, Arthr... |
OMIM:618393 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... |
OMIM:258450 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Dystonia, Neonatal death, Intrauterine growth retardation |
OMIM:618237 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Respiratory insufficiency |
OMIM:617892 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle, Respiratory failure,... |
ORPHA:98755 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tapered finger, Tremor, Flexion contracture, Distal amyotrophy, Respiratory failure, Intention tr... |
OMIM:616505 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... |
ORPHA:70 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... |
OMIM:601163 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Flexion contracture, Increased variabilit... |
OMIM:616866 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:600 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... |
OMIM:252011 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myopathy, Limb dystonia, Increased variability in muscle ... |
OMIM:604377 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
| Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Left ven... |
OMIM:615418 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Facial palsy, Tremor, Cardiorespiratory arrest, Type 1 fibers relatively smalle... |
OMIM:619424 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Skeletal mu... |
OMIM:613327 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... |
OMIM:613845 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Myopathy, Respiratory failure, Limb dystonia |
ORPHA:363400 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Skeletal muscle atrophy, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle... |
ORPHA:319514 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... |
ORPHA:52430 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Tituba... |
ORPHA:280210 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... |
ORPHA:454836 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
| Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb |
ORPHA:36 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Congenital diaphragmatic hernia |
ORPHA:1166 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency, Intrauterine ... |
OMIM:615330 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Dyspnea, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid drop... |
OMIM:255125 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten... |
OMIM:619751 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Hyperplasia of the femoral trochanters, Flexion contractu... |
OMIM:156530 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Neonatal respiratory distress, Arachnodactyly, Type 1 muscle fiber atrophy, Typ... |
OMIM:619036 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... |
OMIM:164310 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency |
OMIM:616720 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98863 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Respiratory insuff... |
OMIM:616479 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98853 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Muscular dystrophy, Mus... |
ORPHA:369840 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Sandal gap, Congenital diaphragmatic hernia |
OMIM:300887 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Tapered finger, Type 1 muscle fiber predominance, Increased variability in muscle fiber di... |
OMIM:612949 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Ragged-red muscle fibers |
ORPHA:1349 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... |
OMIM:605711 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... |
ORPHA:258 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure, Intrauterine... |
ORPHA:1194 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... |
OMIM:253310 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, ... |
OMIM:157640 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Dystonia |
OMIM:616277 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Respiratory insufficiency, Co... |
ORPHA:168572 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... |
OMIM:619057 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Hypercapnia, Intercost... |
ORPHA:2020 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Overlapping toe, Apnea, Flexion contracture, Elbow... |
OMIM:617301 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Respiratory failure, Intrauterine g... |
OMIM:620327 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp... |
ORPHA:3068 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency |
OMIM:609015 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Athetosis, Distal amyotrophy, Fiber type grouping |
OMIM:271245 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Death in childhood |
OMIM:618252 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Skeletal muscle atrophy, Head titubation, Oromandibular dystonia, Upper-limb join... |
ORPHA:300605 |
| Optic Atrophy 11 |
|
Facial diplegia, Athetosis, Bilateral talipes equinovarus, Increased variability in muscle fiber ... |
OMIM:617302 |
| Cooper-Jabs Syndrome |
|
Proximal placement of thumb, Respiratory insufficiency, Camptodactyly of finger, Congenital diaph... |
ORPHA:1488 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:370079 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Tremor, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Death in childhood,... |
OMIM:610505 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res... |
ORPHA:26791 |
| Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular... |
ORPHA:444013 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Increased variability in muscle fiber diameter, Femoral bowing, Macroglossia, Talipe... |
OMIM:617022 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Equinus calcaneus, Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory fail... |
ORPHA:746 |
| Cardiomyopathy, Dilated, 2G |
|
Neonatal death, Increased Z-disc width |
OMIM:619897 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Congenital diaphragm... |
ORPHA:2847 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Respiratory failure, Camptodactyly, Intrauterine growth retardation, Clinodac... |
OMIM:618804 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increa... |
ORPHA:502423 |
| Polymyositis |
|
Cough, Exertional dyspnea, Respiratory insufficiency, Abnormal muscle fiber morphology |
ORPHA:732 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Restrictive ventilatory defect, Scapular winging, Ragged-red muscle fibers, Generalized limb musc... |
OMIM:600462 |
| Tonne-Kalscheuer Syndrome |
|
Tremor, Broad thumb, Congenital diaphragmatic hernia, Brachydactyly |
OMIM:300978 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... |
ORPHA:2912 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Diastasis recti, Flexion contracture, Macroglossia, Respiratory failur... |
ORPHA:254528 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
| Myopathy, Mitochondrial, And Ataxia |
|
Tremor, Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
| 13Q12.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, C... |
ORPHA:412035 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure |
ORPHA:168486 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
| Xp22.13P22.2 Duplication Syndrome |
|
Small hand, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger |
ORPHA:284180 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, T... |
OMIM:618733 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Recurrent pneumonia,... |
ORPHA:496641 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dys... |
OMIM:613150 |
| Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:98914 |
| 46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
| Jansen-De Vries Syndrome |
|
Short foot, Central diaphragmatic hernia, Small hand, Brachydactyly |
OMIM:617450 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... |
OMIM:608836 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Muscular dystrophy |
ORPHA:88618 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Coffin-Siris Syndrome 3 |
|
Macroglossia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Intrauterine ... |
OMIM:614608 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... |
ORPHA:563 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... |
ORPHA:206572 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
| Seckel Syndrome 9 |
|
Intrauterine growth retardation, Asthma, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:616777 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia |
ORPHA:2063 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Metaphyseal widening, Flexion contracture, Congenital diaphragmatic hernia, Ulnar deviation of th... |
OMIM:263210 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Talipes equinovarus, Death in c... |
OMIM:618651 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Death in infancy, Apnea, Ragged-red muscle fibers, Respiratory insuffici... |
OMIM:252010 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex... |
ORPHA:298 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Bra... |
ORPHA:2075 |
| Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory insuffic... |
ORPHA:2311 |
| 1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Congenital diaphragmatic hernia |
ORPHA:250999 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:1915 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia |
OMIM:256000 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy, Opisthotonus |
OMIM:610678 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Metaphyseal widening, Respiratory insufficiency, Abnormality of the ... |
OMIM:135100 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia |
ORPHA:70472 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
| Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Ragged-red musc... |
ORPHA:17 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... |
ORPHA:94065 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
| Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of the 5th finger... |
ORPHA:158687 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Tremor, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, In... |
ORPHA:555874 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Dyspnea, Respiratory failure, Clinodactyly of the 5th finger |
ORPHA:2759 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Opisthotonus |
ORPHA:206436 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Myopathy, Respiratory fail... |
ORPHA:506 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... |
OMIM:194080 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2470 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
| Zaki Syndrome |
|
Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad distal phalanx... |
OMIM:619648 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... |
ORPHA:99845 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
| Myotonic Dystrophy 2 |
|
Weakness of facial musculature, Type 2 muscle fiber atrophy, Generalized amyotrophy, Sternocleido... |
OMIM:602668 |
| Immunodeficiency 54 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplasia of the radius, Re... |
OMIM:617895 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Rhizomelia, Tibial bowing, Femoral bowing, Respiratory failu... |
OMIM:616482 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, 2-3 finger syndactyly, Clubbing of toes, S... |
ORPHA:2437 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Tracheomala... |
ORPHA:1001 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, ... |
ORPHA:565612 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Dyspnea... |
ORPHA:79138 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
OMIM:611812 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Dystonia |
OMIM:614924 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasi... |
ORPHA:958 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Repeated pneumothoraces, Camptodacty... |
OMIM:617602 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Hand polydactyly, Congenital diaphragmatic hernia, Dystonia |
ORPHA:261197 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers, Allodynia |
OMIM:603041 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Clubbing, Bronchiectasis, Respiratory ... |
ORPHA:244 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure |
ORPHA:1861 |
| Emanuel Syndrome |
|
Torticollis, Congenital diaphragmatic hernia, Recurrent sinusitis, Intrauterine growth retardatio... |
OMIM:609029 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Neonatal death, Diaphragmatic eventra... |
OMIM:601186 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Respiratory paralysis, Increased intram... |
ORPHA:79102 |
| Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, Talipes equinov... |
ORPHA:363528 |
| Myhre Syndrome |
|
Overlapping toe, Short toe, Generalized muscle hypertrophy, 2-3 toe syndactyly, Respiratory insuf... |
OMIM:139210 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia |
ORPHA:330021 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Tapered finge... |
ORPHA:251071 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Facial palsy, Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb ... |
ORPHA:254892 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Congenital diaphragmatic... |
ORPHA:1692 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Facial palsy, Flared metaphysis, Respiratory failure, Stillbirth, Limb hypertonia |
OMIM:259720 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:612530 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Respiratory failure, Death in childhood, Opisthotonus |
OMIM:619847 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Tremor, Rhabdomyolysis, Respiratory failure |
ORPHA:533 |
| Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:1780 |
| Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2409 |
| Pentalogy Of Cantrell |
|
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic... |
ORPHA:1335 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Recurrent pneumonia, Elbow flexion contracture, Limb muscle weakness, Rest... |
ORPHA:1900 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly |
ORPHA:2707 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
| Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Respiratory failure, Recurrent pneumonia, Rhabdomyosarcoma |
ORPHA:647 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia |
ORPHA:1834 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Neonatal respiratory distress, Multiple joint contractures, Arachnodactyly, Rocker bo... |
OMIM:265000 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Dystonia, Respiratory insufficiency, Respiratory... |
OMIM:607625 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:313850 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Dyspnea, Hypoplasia of the radius, Respiratory failure, Chyloth... |
ORPHA:3015 |
| Vacterl/Vater Association |
|
Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplasia/Hypoplasia... |
ORPHA:887 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Ragged-red muscle fibers, Episodic respiratory distress, Dystonia, Hyperventilation |
ORPHA:255210 |
| Emanuel Syndrome |
|
Intrauterine growth retardation, Multiple joint contractures, Congenital diaphragmatic hernia, Cough |
ORPHA:96170 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Foot polydactyly, Congenital diaphragmatic hernia, Short palm |
ORPHA:268249 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Respiratory failure, Vestibular areflexia, Dystonia |
ORPHA:3240 |
| Chromosome 15Q25 Deletion Syndrome |
|
Long fingers, Congenital diaphragmatic hernia, Intrauterine growth retardation |
OMIM:614294 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Tibial bowing, Short tibia, Small proximal tibial epiphyses, Intrauterine gr... |
ORPHA:96334 |
| Abetalipoproteinemia |
|
Myopathy, Respiratory failure, Distal lower limb muscle weakness, Talipes equinovarus |
ORPHA:14 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Abnormality of the t... |
ORPHA:273 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasia o... |
OMIM:200980 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Talipes equinovarus, Genu varum |
OMIM:619743 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Tremor, Aplasia/Hypoplasia of the abdominal wall musculature, Respirato... |
ORPHA:646 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus |
ORPHA:445038 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... |
ORPHA:209905 |
| Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Radial bowi... |
OMIM:304120 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Congenital diaphragmatic hernia, Broad d... |
OMIM:245600 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Tremor, Choreoathetosis, Congenital diaphragmatic hernia, Short distal phalanx of finger |
OMIM:614080 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Dyspnea, Short foot, Respiratory failure, Limb undergrowth, Brachydactyly |
OMIM:617809 |
| White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Intrauterine growth retardation, Broad thumb, ... |
OMIM:616364 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Hypopnea, Respiratory failure, Dystonia, Neonatal death, Respira... |
OMIM:617248 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia |
ORPHA:2556 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia |
ORPHA:2260 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Dyspnea, Patellar aplasia, Respiratory failure, Cl... |
ORPHA:2554 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Sandal gap, Morgagni diaphragmatic hernia,... |
OMIM:613177 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the c... |
ORPHA:3342 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c... |
OMIM:300868 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Congenital diaphragmatic hernia, Micromelia |
OMIM:616546 |
| Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
| Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Stillbir... |
OMIM:608978 |
| Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, 3-... |
OMIM:304110 |
| Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Arterial Tortuosity Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:208050 |
| Fryns Syndrome |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Short distal phalanx of finger |
ORPHA:2059 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Rhabdomyosarcoma, Achilles tendon contracture, Pneumotho... |
OMIM:218040 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Camptodactyl... |
ORPHA:2092 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co... |
OMIM:154400 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Short foot, Clinodactyly of the 5t... |
OMIM:618454 |
| Pagod Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia |
ORPHA:991 |
| Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
| White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Micromelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Hypoplasia o... |
OMIM:122470 |
| Melas |
|
Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Pulmonary arterial hy... |
ORPHA:550 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Respiratory insufficiency, Congenital diaphragmatic hernia |
OMIM:617641 |
| Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial hand polydactyly, Deviation o... |
ORPHA:3380 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618846 |
| Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance |
OMIM:614557 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph... |
ORPHA:2911 |
| Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Small hand, Genu valgum, Finger cl... |
ORPHA:1596 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614437 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death |
OMIM:124000 |
| Aymé-Gripp Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Radioulnar synostosis, Campt... |
ORPHA:1272 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:618278 |
| Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... |
ORPHA:420741 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh... |
OMIM:301044 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia |
OMIM:309801 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Death in infancy, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, C... |
ORPHA:373 |
| C Syndrome |
|
Death in infancy, Toe syndactyly, Congenital diaphragmatic hernia, Micromelia, Aplasia/Hypoplasia... |
ORPHA:1308 |
| Opitz Gbbb Syndrome |
|
Stridor, Tracheomalacia, Recurrent aspiration pneumonia, Congenital diaphragmatic hernia |
ORPHA:2745 |
| Limb Body Wall Complex |
|
Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi... |
ORPHA:2369 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal distal phalanx morphology of finger, Micromelia, Abnormal metacarpal morphology, Dyspnea... |
ORPHA:2636 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:273395 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Hand polydactyly, Dystonia, Brachydac... |
ORPHA:2162 |
| Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Intrauterine growth reta... |
ORPHA:125 |
| Monosomy 9P |
|
Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni... |
ORPHA:261112 |
| Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Postaxial polydactyly, Short... |
ORPHA:221120 |
| 7Q11.23 Microduplication Syndrome |
|
Tracheomalacia, Long fingers, Congenital diaphragmatic hernia |
ORPHA:96121 |
| Choreoacanthocytosis |
|
Resting tremor, Peroneal muscle atrophy, Head titubation, Oromandibular dystonia, Blepharospasm, ... |
ORPHA:2388 |
| Wolf-Hirschhorn Syndrome |
|
Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Short t... |
ORPHA:280 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intrauterine growth retardation, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
OMIM:600001 |
| Kabuki Syndrome |
|
Short middle phalanx of finger, Small hand, Short 5th finger, Congenital diaphragmatic hernia |
ORPHA:2322 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2255 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Post... |
ORPHA:818 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R... |
ORPHA:79404 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
| Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalanges of the hand,... |
OMIM:182250 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Intrauterine growth retardation... |
OMIM:613658 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the... |
ORPHA:3404 |
| Fraser Syndrome 2 |
|
Respiratory failure, Cutaneous syndactyly |
OMIM:617666 |
| Joubert Syndrome 21 |
|
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea |
OMIM:615636 |
| Cardiac-Urogenital Syndrome |
|
Tracheomalacia, 2-3 toe syndactyly, Congenital diaphragmatic hernia |
OMIM:618280 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Carpal synostosis, Brachydactyly |
OMIM:157800 |
| Focal Dermal Hypoplasia |
|
Short metacarpal, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Postaxial han... |
OMIM:305600 |
| Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Congenital diaphragmatic hernia, Proxima... |
ORPHA:199 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short palm, Broad toe, Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Postaxia... |
OMIM:312870 |
| Coffin-Siris Syndrome 1 |
|
Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of the to... |
OMIM:135900 |
| Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia, Proximal placem... |
OMIM:613406 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia |
ORPHA:116 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Absent thumb, Respiratory failure, Intrauterine growth retardation, Emphysema |
ORPHA:500150 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax |
ORPHA:731 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
| Pallister-Killian Syndrome |
|
Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb shortening, Postaxial hand... |
OMIM:601803 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Interstitial cardiac fibrosis, Left atrial enlargement, Right atrial... |
ORPHA:75249 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
