| Spastic Paraplegia 18B, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Babinski s... |
OMIM:611225 |
| Miyoshi Myopathy |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... |
ORPHA:45448 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Lower limb spasticity, Clo... |
ORPHA:401785 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... |
OMIM:600175 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... |
ORPHA:482601 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... |
OMIM:601472 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Spasticity, Skeletal muscle atrophy, Decreased body weight, Scissor gait, Hypertonia |
ORPHA:401805 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Babins... |
OMIM:612335 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness, Limb ... |
ORPHA:488594 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture |
OMIM:611105 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Spasticity, Skeletal muscle atrophy, Fasciculations, Ankle clonus, Thoracic scoliosis, Babinski s... |
OMIM:615681 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... |
OMIM:617046 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle... |
OMIM:610250 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Atelectasis, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Neoplasm of the skin, Scoliosis, Deficient excision of UV-induced pyrimidine dimers in DNA, Tremo... |
OMIM:278760 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Proximal amyotrophy, Lower limb spasticity, Hyperlordosis, Scoliosis, Increased adipose... |
OMIM:617404 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture |
OMIM:614915 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Kyphosis, Respiratory insufficiency, Sc... |
OMIM:313420 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Knee flexion contra... |
OMIM:615043 |
| Myosclerosis, Autosomal Recessive |
|
Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles... |
OMIM:255600 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol... |
OMIM:300717 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Fasciculations, Hi... |
OMIM:615290 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... |
OMIM:619773 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Urinary bladder ... |
ORPHA:100985 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign |
OMIM:612539 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Tongue fasciculations, Spondyl... |
OMIM:600561 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Knee flexion contr... |
ORPHA:320370 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Spastic paraplegia, Abnormal pyramidal sign, Skeletal muscle atrophy, Babinski sign |
ORPHA:357043 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis... |
OMIM:122860 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Clonus, Hypertonia |
OMIM:615686 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... |
OMIM:619042 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Abnormality ... |
ORPHA:363454 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... |
OMIM:619519 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Spastic paraplegia, Prolonged central motor conduction time, Skeletal muscle atrophy, Babinski sign |
OMIM:616282 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... |
ORPHA:267 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Muscle fiber... |
OMIM:256030 |
| Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures |
OMIM:611369 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Spasticity, Skeletal muscle atrophy, Fasciculations, Ankle clonus, Achilles tendon contracture, S... |
OMIM:620323 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Short neck, Mandibular aplas... |
ORPHA:1832 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, S... |
OMIM:602484 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... |
OMIM:611067 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Retrognathia, Micrognathia, Neonatal death, Short neck, Respiratory insufficiency due t... |
OMIM:611890 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Extensor Tendons Of Finger Anomalies |
|
Multiple lipomas, Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Lowe... |
OMIM:620068 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Dilated cardiomyopathy, Scoliosis, Frequent falls, Slender build, Type 1 muscle ... |
OMIM:161800 |
| Muscular Atrophy, Malignant Neurogenic |
|
Respiratory paralysis, Skeletal muscle atrophy |
OMIM:158650 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis |
OMIM:300455 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... |
OMIM:607088 |
| Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... |
ORPHA:97244 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... |
OMIM:619216 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb m... |
OMIM:610687 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:615025 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... |
ORPHA:98863 |
| Diastrophic Dysplasia |
|
Depressed nasal bridge, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Ca... |
ORPHA:628 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Claw hand deformity, Distal lower limb muscle weakness, Paralysis, ... |
OMIM:605285 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... |
OMIM:300696 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:98853 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Fasciculations, Tremor, Spinal muscular atrophy, Calf muscle hypertrophy |
OMIM:615048 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
| Flynn-Aird Syndrome |
|
Carious teeth, Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteo... |
OMIM:136300 |
| Congenital Myopathy 16 |
|
Tongue tremor, Lumbar hyperlordosis, Postural tremor, Scapular winging, Flexion contracture, Scol... |
OMIM:618524 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Depressed nasal bridge, Advanced tarsal ossification, Micrognathia... |
OMIM:215045 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Myopathy, Cachexia, Hyperlordosis, Flexion contracture, Spinal rigidity |
ORPHA:157973 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent lower respira... |
OMIM:616726 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration,... |
ORPHA:70589 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... |
OMIM:606612 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia |
ORPHA:1766 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... |
OMIM:160150 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Tongue fasciculations, Skeletal muscle atrophy, Failure to thrive, Spinal muscular atrophy, Joint... |
OMIM:616081 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:98855 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Scoliosis, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy |
OMIM:613710 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Multiple joint contractures, Myopathy, Limb-girdle muscle weakness, Hyperlordosis |
ORPHA:352470 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Proximal amyotrophy |
OMIM:182980 |
| Gemignani Syndrome |
|
Hypoplasia of penis, Skeletal muscle atrophy, Hemiplegia/hemiparesis, Ataxia |
ORPHA:2074 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Slend... |
ORPHA:399103 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the... |
ORPHA:206546 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Cardiomyopathy, Lumbar hyperlordosis, Limb-girdle muscle weakness, Hypoglycos... |
OMIM:609308 |
| Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis |
OMIM:616286 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Lower limb spasticity, Spastic gait, ... |
OMIM:613162 |
| Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Thoracic scoliosis, Hyperlordosis, Scapular winging, Achilles tendon contract... |
ORPHA:62 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis |
OMIM:615198 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... |
OMIM:614065 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe... |
OMIM:619566 |
| Roussy-Lévy Syndrome |
|
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter... |
ORPHA:3115 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Failure to thrive, Tetraparesis, Type... |
OMIM:618276 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Distal amyotrophy, Lower limb muscle weakness, Frequent falls, Foot dorsiflexor ... |
OMIM:607684 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Distal amyotrophy, Progressive spastic paraparesis, Foot dorsiflexor weakness, Spinal muscular at... |
ORPHA:496756 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Atelectasis, Death in infancy, Joint hypermobility, Neonatal death |
OMIM:300219 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, Knee flexion contracture... |
ORPHA:496689 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column |
OMIM:602475 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Chronic bronchitis, Recurren... |
OMIM:608647 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage, Small for ge... |
OMIM:278780 |
| Pulmonary Blastoma |
|
Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal l... |
ORPHA:2357 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Proximal muscle weakness in upper limbs, Paraplegia, Distal lower limb amyotr... |
ORPHA:98897 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Skeletal muscle atrophy |
ORPHA:90081 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Distal amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Spinal muscular atrophy, Babin... |
OMIM:605726 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Hand muscle weak... |
ORPHA:101077 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Multiple lipomas, Lipody... |
OMIM:151800 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Ullrich Congenital Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity of finge... |
ORPHA:75840 |
| Spinal Muscular Atrophy, Type Iii |
|
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... |
OMIM:253400 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Spasticity, Distal amyotrophy, Babinski sign, Hyperlordosis, Arthrogryposis multiplex congenita |
OMIM:162370 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumbar hyperlordosis, He... |
OMIM:615980 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Neonatal respiratory distress, Atelectasis |
OMIM:267450 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Tongue fasciculations, Involuntary movements, Ske... |
ORPHA:238329 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R... |
ORPHA:60032 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Nasal congestion, Pulmonary situs am... |
ORPHA:244 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Scoliosis, Respiratory failure, Respiratory insufficiency due to ... |
ORPHA:2590 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density, Abn... |
ORPHA:3152 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Depressed nasal bridge, Anisospondyly, Anteverted nares, Micrognathia, Delayed pat... |
ORPHA:163649 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Cranial hyp... |
ORPHA:3416 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Premature graying of hair, Interosseus muscle atrophy, Inguinal hernia, D... |
OMIM:619903 |
| Meconium Aspiration Syndrome |
|
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothor... |
ORPHA:70588 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Wide nasal bridge, Osteopenia, Delayed eruption of teeth, Atelectasis, Osteomyelitis, Joint hyper... |
ORPHA:2314 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Slender build, Myopathy, Patent foramen ovale, Hyperlordosis, Pe... |
OMIM:615156 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
OMIM:607706 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Gait ataxia, Dysmetria, ... |
OMIM:616907 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Babinski ... |
OMIM:609260 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Hip contracture, Kyphosc... |
OMIM:222600 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Carious teeth, Micrognathia, Radioulnar synostosis, Beaking of vertebra... |
ORPHA:536467 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Lethal Congenital Contracture Syndrome 8 |
|
Distal amyotrophy, Facial diplegia, Distal arthrogryposis, Vocal cord paralysis, Flexion contracture |
OMIM:616287 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con... |
ORPHA:369840 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss |
ORPHA:52416 |
| C1Q Deficiency 2 |
|
Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis, Atelectasis |
OMIM:620321 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis, Hypertrophic cardiom... |
ORPHA:3208 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacif... |
OMIM:610978 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Tetrapare... |
OMIM:616827 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m... |
OMIM:616867 |
| Intermediate Osteopetrosis |
|
Dental malocclusion, Sandwich appearance of vertebral bodies, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:254361 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia |
ORPHA:90117 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Limit... |
ORPHA:93284 |
| Metatropic Dysplasia |
|
Platyspondyly, Depressed nasal bridge, Anisospondyly, Hypoplasia of the odontoid process, Caudal ... |
OMIM:156530 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... |
ORPHA:254875 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Frequent falls, Exer... |
OMIM:607155 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Peroneal muscle weakness, Calf muscle hypertrophy, H... |
OMIM:611588 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Skeletal muscle atrophy |
OMIM:615683 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Joint stiffness... |
ORPHA:896 |
| Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... |
ORPHA:2596 |
| Spastic Paraplegia 2, X-Linked |
|
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria, Babinski sign... |
OMIM:312920 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure |
ORPHA:70587 |
| Myopathy, Myofibrillar, 7 |
|
Enuresis nocturna, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle... |
OMIM:617114 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atr... |
OMIM:620285 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy, Ataxia, Scolio... |
OMIM:617207 |
| Congenital Myopathy 14 |
|
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Death in infancy, Respirato... |
OMIM:618414 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Lumbar hyp... |
OMIM:255310 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... |
OMIM:603034 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Quadriceps muscle weakness, Hand tremor, Hand muscle weakness, Frequent falls, Postural tremor, D... |
ORPHA:99947 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Hamartoma |
ORPHA:141152 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Lumbar hyperlordosis, Limb-girdle muscle weakness,... |
OMIM:613818 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Kyphosis, Hyperlordosis, Scapular winging, Flexion co... |
OMIM:255200 |
| Nemaline Myopathy 8 |
|
Flexion contracture, Respiratory failure, Death in infancy |
OMIM:615348 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Calf muscle hypoplasia, Failure to thrive in infancy, Distal lower limb amyotrophy, Gait ataxia, ... |
ORPHA:90103 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Joint hypermobility, H... |
ORPHA:2759 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy |
ORPHA:1216 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy |
OMIM:609273 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Myopathy, Myofibrillar, 6 |
|
Spinal rigidity, Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myof... |
OMIM:612954 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle... |
ORPHA:266 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... |
OMIM:619542 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... |
OMIM:300816 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis, Abnormality of the liver, Neoplasm |
ORPHA:132 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... |
ORPHA:3348 |
| Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Apical pulmonary opacity, Arthralgia/arthritis, Sinusitis, ... |
ORPHA:449280 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Left ventricular hypertrophy, Hyperlordosis, Micropenis, Macroglossia, Flexio... |
OMIM:613156 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Frequent falls, Generalized weakness of limb muscles, Lumbar hyperlordosis, Type 1 muscle fiber p... |
ORPHA:353327 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Dysmetria,... |
OMIM:610357 |
| Pycnodysostosis |
|
Carious teeth, Micrognathia, Delayed eruption of primary teeth, Coronal craniosynostosis, Hypopla... |
ORPHA:763 |
| Juvenile Primary Lateral Sclerosis |
|
Spasticity, Skeletal muscle atrophy, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis,... |
ORPHA:247604 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Scoliosis, Skeletal muscle atrophy, Hypertrichosis |
OMIM:618244 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu... |
OMIM:263000 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... |
ORPHA:1143 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density |
OMIM:190320 |
| Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Failure to thrive, Fasciculations, Incoordination, Abnormality of extrap... |
ORPHA:309162 |
| Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait... |
OMIM:607458 |
| Hyperekplexia 4 |
|
Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Respiratory failure |
OMIM:618011 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis, Myopathy |
ORPHA:408 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Denervation of the diaphrag... |
ORPHA:99948 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Pneumocystosis |
|
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti... |
ORPHA:723 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc... |
OMIM:613287 |
| Raine Syndrome |
|
Choanal atresia, Depressed nasal bridge, Natal tooth, Arthrogryposis multiplex congenita, Microgn... |
OMIM:259775 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Decreased cervical spine mobility, Multiple joint contractures, Scolio... |
ORPHA:370968 |
| Ataxia-Telangiectasia |
|
Spasticity, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Fai... |
ORPHA:100 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormality of the vertebral column, Recurrent fractures, Thickened cortex of long bones, General... |
OMIM:607634 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Tremor, Ataxia, Scoliosis, Kyphosis |
ORPHA:101078 |
| Allan-Herndon-Dudley Syndrome |
|
Spasticity, Decreased body mass index, Skeletal muscle atrophy, Spastic tetraplegia, Failure to t... |
ORPHA:59 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Frequent fal... |
OMIM:159950 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
| Acquired Hypertrichosis Lanuginosa |
|
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... |
ORPHA:2221 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
ORPHA:435387 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Scoliosis, Respiratory failure, Camptodactyly of finger |
OMIM:614399 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Thoracolumbar kyphoscoliosis, Short neck, Hyperlordosis, M... |
OMIM:617396 |
| Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Adrenocortical adenoma, Respiratory paralysis, Paralysis, Increased... |
ORPHA:681 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the colon, Stomach cancer, Neoplasm of the skeletal system, Neoplasm of the rectum, W... |
ORPHA:440437 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Kyphosis, Scapular muscle atrophy, ... |
OMIM:181405 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Spastic paraparesis, Frontal balding, Decreased muscle mass, Hand tremor, Lumbar kyphosis in infa... |
ORPHA:3041 |
| Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Massively thickened l... |
ORPHA:1798 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Spasticity, Distal amyotrophy, Head tremor, Gait ataxia, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:352641 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Distal amyotrophy, Failure to thrive, Foot dorsiflexor weakness, Hand musc... |
OMIM:618811 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ra... |
OMIM:276950 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Muscular Dystrophy, Congenital, 1B |
|
Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn... |
OMIM:604801 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Hypospadias, Tongue fasciculations, Scoliosis, Multiple joint contractures, Myopathy, Spinal musc... |
OMIM:301830 |
| Otopalatodigital Syndrome Type 1 |
|
Wide nasal bridge, Depressed nasal bridge, Synostosis of carpal bones, Limitation of joint mobili... |
ORPHA:90650 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Vocal cord pare... |
ORPHA:101097 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Gingival fibromatosis, Skeletal muscle atrophy, Progressive flexion con... |
ORPHA:2028 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy, Fasciculations |
ORPHA:84142 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Atrophic scars, Myopathy, Kyphoscoliosis, Hernia |
ORPHA:300179 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis, Babinski sign, Lower limb spasticity, Spastic gait, Upper limb spasticity |
OMIM:619966 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Retrognathia, Respiratory insufficiency, Micrognathia, Neonatal death, Limb joint contracture, Fl... |
OMIM:618186 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... |
OMIM:248800 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Anosmia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chroni... |
OMIM:244400 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic paraplegia, Upper limb spasticity, Spastic gait, Upper limb muscle weakness, Lower limb m... |
OMIM:270800 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Bethlem Muscular Dystrophy |
|
Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl... |
ORPHA:610 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... |
ORPHA:2902 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Lymphoma, Decreased body weight |
ORPHA:477814 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:618393 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Scoliosis, Kyphosis |
OMIM:616756 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia, Respiratory failure, Spinal rigidity |
OMIM:620326 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic paraplegia, Spastic gait, Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bl... |
OMIM:604360 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Scoliosis, Distal amyotrophy, Facial diplegia, Skeletal muscle atrophy |
OMIM:618184 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Distal amyotrophy, Tremor, Kyphoscoliosis |
OMIM:619099 |
| Sialidosis Type 2 |
|
Nephropathy, Skeletal muscle atrophy, Umbilical hernia, Inguinal hernia, Tremor, Ataxia, Hepatome... |
ORPHA:87876 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Elevated urinary delta-aminolevulinic acid, Paralysis, Failure to thrive |
OMIM:612740 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... |
ORPHA:52430 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Dilated cardiom... |
OMIM:604286 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Kyphoscoliosis, Pro... |
ORPHA:370980 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Chronic Hiccup |
|
Weight loss, Abnormality of the diaphragm |
ORPHA:396 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Wide nasal bridge, Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Retrogn... |
OMIM:613177 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Inguinal hernia, Abnormal... |
ORPHA:577 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Distal amyotrophy, Fasciculations, Incoordination, Gait ataxia, Foot dorsiflexor weakness, Intrin... |
OMIM:616688 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
| Beemer-Ertbruggen Syndrome |
|
Wide nasal bridge, Respiratory insufficiency, Bulbous nose, Micrognathia, Increased bone mineral ... |
ORPHA:1237 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, M... |
ORPHA:300605 |
| Pycnodysostosis |
|
Spondylolysis, Carious teeth, Persistence of primary teeth, Micrognathia, Prominent nose, Spondyl... |
OMIM:265800 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ... |
ORPHA:1782 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Skeletal muscle atrophy, Failure to thrive, Dysmetria |
OMIM:618251 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... |
ORPHA:98911 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... |
OMIM:620011 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Inguinal hernia, Hip contracture, Kyphoscoliosis, Amelogenesis imperfecta, Enamel hypopl... |
OMIM:618363 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Micrognathia, Multiple joint contractures, Femur fracture, Respiratory insufficiency du... |
OMIM:618291 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis, Limb muscle weakness |
ORPHA:90064 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... |
ORPHA:99931 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Fried Syndrome |
|
Scoliosis, Skeletal muscle atrophy, Spastic diplegia |
ORPHA:85335 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Diaphragmatic paralysis |
ORPHA:868 |
| Radio-Renal Syndrome |
|
Depressed nasal bridge, Chylothorax, Retrognathia, Abnormal form of the vertebral bodies, Microgn... |
ORPHA:3015 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Premature graying of hair, Elbow flexion contracture, Decreased body wei... |
OMIM:616200 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Hand muscle atrophy, Spasticity of facial muscles, Opisthotonus, Clonus, Ataxia, Urin... |
OMIM:205100 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Tongue fasciculations, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Spasticity, Skeletal muscle atrophy, Failure to thrive, Tetraparesis, Tremor |
OMIM:620546 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Neonatal death, Widening of cervical spinal canal, Arthrogryposis multiplex congeni... |
OMIM:253310 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Postur... |
OMIM:270685 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... |
ORPHA:71277 |
| Lynch Syndrome |
|
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... |
ORPHA:144 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Acut... |
ORPHA:36238 |
| Werner Syndrome |
|
Neoplasm of the oral cavity, Premature graying of hair, Slender build, White forelock, Melanoma, ... |
ORPHA:902 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... |
ORPHA:169186 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Neoplasm of the skeletal system, Weight loss, Vocal cord par... |
ORPHA:142 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... |
OMIM:610099 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Respira... |
OMIM:619334 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Skeletal muscle atrophy, Kyphosis, Myoclonus, Ataxia, Hepatomegaly, Scoliosis, Ant... |
OMIM:230650 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Wieacker-Wolff Syndrome |
|
High anterior hairline, Distal amyotrophy, Scoliosis, Kyphosis, Spasticity, Short neck, Oculomoto... |
OMIM:314580 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... |
OMIM:245400 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, B-cell lymphoma, Weight loss, Hepatomegaly, Breast carcinoma |
ORPHA:86893 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Abnormality of the temporomandibular joint, Respiratory insufficiency, Intercostal m... |
ORPHA:258 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Facial diplegia, Foot... |
ORPHA:171436 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Skeletal muscle atrophy, Postural tremor, Babinski sign, Lower limb spasticit... |
ORPHA:100988 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Bulbous nose, Anteverted nares, Neonatal death, Narrow nasal ridge, Short neck... |
OMIM:236500 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis |
OMIM:606777 |
| Nemaline Myopathy 10 |
|
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Fatty replacement of skeletal m... |
OMIM:616165 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Weight loss, Chorea, Parkinsonism |
ORPHA:98934 |
| Masa Syndrome |
|
Spastic paraplegia, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis |
OMIM:303350 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Skeletal muscle atrophy... |
OMIM:616719 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Wide nasal bridge, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Retrognathia,... |
ORPHA:2780 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Failure to thrive, Tongue-like lumbar vertebra... |
OMIM:264180 |
| Classic Multiminicore Myopathy |
|
Spinal rigidity, Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Increased muscle li... |
ORPHA:324604 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Skeletal muscle atrophy, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature |
OMIM:610313 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra... |
ORPHA:42 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Distal amyotrophy, Congenital foot contractures, Oculomotor apraxia, Scoliosis, Kyphosis |
ORPHA:3454 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Tongue fasciculations, Skeletal muscle atrophy, Interphalangeal joint ... |
ORPHA:1145 |
| Leber Optic Atrophy And Dystonia |
|
Spasticity, Skeletal muscle atrophy, Upper motor neuron dysfunction, Bradykinesia, Athetosis, Sco... |
OMIM:500001 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Spastic paraparesis, Failure to thrive, Appendicular spasticity, Kyphoscoliosis, Abnormal pyramid... |
OMIM:260600 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Xfe Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Corneal scarring, Ren... |
OMIM:610965 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to t... |
OMIM:254090 |
| Gm1 Gangliosidosis |
|
Spasticity, Hepatosplenomegaly, Ventricular septal defect, Generalized hirsutism, Weight loss, At... |
ORPHA:354 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Distal amyotrophy, Skeletal muscle atrophy, Limb muscle weakness, Gait ataxia... |
OMIM:614895 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature |
OMIM:617069 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Upper mot... |
OMIM:612079 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Joint contracture of the hand, Chylothorax, Death in childhood, Death in infancy, Thoracic scolio... |
OMIM:620278 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contrac... |
OMIM:613205 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Arthrogryposis multiplex congenita, Retrognathia, Respiratory insufficiency |
OMIM:615330 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Dentinogenesis imperfecta, Increased bone mineral density, Joint hypermobility, Ky... |
OMIM:614856 |
| Rhabdoid Tumor |
|
Cerebral palsy, Hemiplegia, Hematuria, Neoplasm of the liver, Weight loss, Renal neoplasm, Sarcom... |
ORPHA:69077 |
| Cerebellar Ataxia, Cayman Type |
|
Skeletal muscle atrophy, Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Hypomimic face, Inten... |
OMIM:601238 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Dystrophic fingernails, Skeletal muscle atrophy, Dystrophic toenail |
ORPHA:970 |
| Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, He... |
ORPHA:480 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Fanconi Anemia, Complementation Group C |
|
Anterior wedging of T12, Deficient excision of UV-induced pyrimidine dimers in DNA, Horseshoe kid... |
OMIM:227645 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Rigidity, Thick hair, Ataxia, Scoliosis |
OMIM:618239 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss... |
OMIM:135100 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Generalized amyotrophy, Lower limb muscle weakness, Progressive ga... |
ORPHA:1177 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Lumbar hyperlordosis,... |
ORPHA:171881 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Cardiomyopathy, Calf muscle hypertrophy, Flexion contracture, Scoliosis |
ORPHA:98896 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperos... |
OMIM:144750 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Neuroendocrine neoplasm, Neoplasm of the larynx |
ORPHA:100083 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Spastic gait, Lower limb muscle weakn... |
OMIM:275900 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... |
ORPHA:178320 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Death in infancy |
OMIM:616277 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:101081 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Retrognathia, Short neck, Convex nasal ridge, Camptodactyly, Respiratory failure |
OMIM:618804 |
| Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia, Neonatal death |
OMIM:245650 |
| Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... |
ORPHA:803 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat... |
ORPHA:333 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Joint contracture, Scoliosis, Generalized amyotrophy |
OMIM:616516 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Scoliosis, Skeletal muscle atrophy, Tremor |
ORPHA:330050 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Joint contracture, Hepatomeg... |
OMIM:615704 |
| Flynn-Aird Syndrome |
|
Alopecia, Skeletal muscle atrophy, Cachexia, Ataxia, Scoliosis, Kyphosis |
ORPHA:2047 |
| Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Supernumerary nipple, Hamartoma, Spina bifida occulta, Scoliosis,... |
ORPHA:64755 |
| Pseudohypoparathyroidism Type 1B |
|
Depressed nasal bridge, Delayed eruption of teeth, Increased bone density with cystic changes, Sh... |
ORPHA:94089 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Reduced subcutaneous adipose tissue, Cachexi... |
ORPHA:1979 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Renal hypoplasia, Spasticity, Fine hair, Increased vertebral heigh... |
OMIM:616817 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f... |
OMIM:258450 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, Femur... |
OMIM:259700 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hyperlordosis, Central diaphragmatic hernia |
OMIM:617450 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... |
OMIM:611302 |
| Trichothiodystrophy |
|
Spasticity, Cardiomyopathy, Umbilical hernia, Tiger tail banding, Absence of subcutaneous fat, Mu... |
ORPHA:33364 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Scoliosis, Skeletal muscle atrophy, Ataxia |
ORPHA:1188 |
| Pontocerebellar Hypoplasia Type 1 |
|
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Failure to thrive, Ataxia, Arthrogryp... |
ORPHA:2254 |
| Dysosteosclerosis |
|
Platyspondyly, Osteopenia, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Scle... |
OMIM:224300 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Micrognathia, Malar flattening, Thin bony cortex, Obtuse angle of mandible, Increased... |
ORPHA:85184 |
| Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... |
ORPHA:171433 |
| Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Hamstring contractures, Knee flexion ... |
OMIM:310200 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Depressed nasal bridge, Platyspondyly, Natal tooth, Anteverted nares, Micro... |
ORPHA:50945 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Platyspondyly, Joint contracture of the hand, Cervical kyphosis, Skeletal muscle atrophy, Quadric... |
OMIM:255800 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Bronchiectasis |
OMIM:604571 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Lower limb muscle weakness, Myositis, Clumsiness, Proximal amyotrophy, Scapul... |
OMIM:253600 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Hypertonia, Ankle clonus |
OMIM:617054 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Kyphoscoli... |
OMIM:271630 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Anteverted nares, Respiratory failure, Wide nasal bridge |
OMIM:312170 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Biventricular hypertrophy, Hy... |
OMIM:255160 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakness, Limb dysmetria, Weakness of facial... |
ORPHA:329336 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... |
OMIM:158900 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Fasciculations |
OMIM:137200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Avian Influenza |
|
Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Res... |
ORPHA:454836 |
| Maffucci Syndrome |
|
Scoliosis, Pituitary adenoma, Cerebral palsy, Chondrosarcoma, Neoplasm of the parathyroid gland, ... |
ORPHA:163634 |
| Fucosidosis |
|
Hernia, Beaking of vertebral bodies, Hepatomegaly, Absent/hypoplastic coccyx, Anterior beaking of... |
OMIM:230000 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Limb muscle weakness, Myoclonus, Tremor, Cachexia, Ataxia, Facial palsy |
ORPHA:97229 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Elbow flexion contracture, Multiple joint contractures, Knee flexi... |
ORPHA:70 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... |
OMIM:609223 |
| Familial Cervical Artery Dissection |
|
Paralysis, Facial palsy, Abnormality of connective tissue |
ORPHA:36382 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Atypical scarring of skin, Sparse eyebrow, Skeletal muscle atrophy, Atroph... |
ORPHA:75496 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations... |
OMIM:615157 |
| Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular hypertr... |
OMIM:618228 |
| Fucosidosis |
|
Spasticity, Spastic tetraplegia, Kyphosis, Failure to thrive, Decreased muscle mass, Abnormality ... |
ORPHA:349 |
| Congenital Myopathy 19 |
|
Congenital contracture, Skeletal muscle atrophy, Hydronephrosis, Facial hypotonia, Scoliosis |
OMIM:618578 |
| Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Synostosis of carpal bones, Carpal synostosis, Camptodactyly of finger, M... |
ORPHA:90652 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Clonus, Joint contracture, Spastic tetraparesis, Scoliosis |
OMIM:617481 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Type 2 muscle fiber atrophy, Facial palsy, Arthro... |
OMIM:608931 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Progressive spastic paraplegia, Lower limb muscle weakness, Babinski sign, Lower limb spasticity,... |
ORPHA:171863 |
| Mcdonough Syndrome |
|
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis, Synophrys |
ORPHA:2471 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... |
ORPHA:98913 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Retrognathia, Camptodactyly of finger, Death in infancy, Flexion contracture, Respiratory failure |
ORPHA:1194 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim... |
OMIM:615284 |
| Sialidosis Type 1 |
|
Aminoaciduria, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Urinary excretion ... |
ORPHA:812 |
| Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:101085 |
| Desmosterolosis |
|
Depressed nasal bridge, Retrognathia, Abnormality of the nose, Micrognathia, Osteopetrosis, Short... |
ORPHA:35107 |
| Christianson Syndrome |
|
Decreased muscle mass, Thick eyebrow, Gait ataxia, Cachexia, Truncal ataxia, Arthrogryposis multi... |
ORPHA:85278 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Aortic valve prolapse, Enamel hypoplasia... |
OMIM:619980 |
| Polymyositis |
|
Chondrocalcinosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitral valve mor... |
ORPHA:732 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... |
OMIM:500013 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Anisospondyly, Respiratory insufficiency, Micrognathia, Malar flattening, Neon... |
OMIM:224410 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
ORPHA:99642 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Multiple joint contractures, Tremor, Babinski sign, Hyperlordosis, Torticollis, Hy... |
OMIM:128100 |
| Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... |
ORPHA:98757 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Atelectasis, Respiratory insufficiency, Neonatal death, Short neck, Pulmonary hypopl... |
OMIM:269860 |
| Cleidocranial Dysplasia 1 |
|
Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Spondylolysis, Scoliosi... |
OMIM:119600 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Abnormal thoracic spine mo... |
ORPHA:370348 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... |
ORPHA:98902 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
| Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss |
ORPHA:317 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim... |
OMIM:259710 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Bulbous nose, Anteverted nares, Flexion contracture, Scoliosis, Respiratory failure |
OMIM:616505 |
| Juvenile Huntington Disease |
|
Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Ataxia, Bradykinesia, Progressive cerebell... |
ORPHA:248111 |
| Eosinophilic Fasciitis |
|
Cellulitis, Fasciitis, Myositis, Muscular edema, Weight loss |
ORPHA:3165 |
| Aredyld Syndrome |
|
Sparse body hair, Abnormal dental enamel morphology, Abnormality of the ureter, Cachexia, Aplasia... |
ORPHA:1133 |
| Pure Mitochondrial Myopathy |
|
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Frequent falls, Lumbar hyperlordosis... |
ORPHA:254854 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
|
