| Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... |
OMIM:611225 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Knee flexion contract... |
ORPHA:401785 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:601472 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Babinski sign, Spasti... |
OMIM:615681 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity |
ORPHA:401805 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Babinsk... |
OMIM:612335 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Functional abnormality of ... |
ORPHA:488594 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... |
OMIM:300718 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... |
OMIM:617046 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Short neck, Dyspnea, Depressed nasal ridge,... |
ORPHA:1832 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Hyperlordosis, Quadriceps ... |
OMIM:620389 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... |
OMIM:300717 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Seborrheic keratosis, Tremor, Flexion contracture, Defective DNA repair after ultraviolet... |
OMIM:278760 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Ankle clonus, ... |
OMIM:610250 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proxim... |
OMIM:617404 |
| Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Babinski sign, Spastic paraplegia, Knee flexion contracture, Distal am... |
OMIM:615043 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... |
OMIM:600561 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... |
OMIM:255600 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Urinary urgency, Distal amyotrophy, L... |
ORPHA:100985 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... |
ORPHA:320370 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,... |
OMIM:615290 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign |
ORPHA:357043 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia |
OMIM:615686 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... |
ORPHA:363454 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Respiratory insufficiency due to muscle weakness, Short neck, Kyphosis, Respiratory... |
OMIM:611890 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... |
OMIM:619519 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Prolonged central motor conduction time, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia |
OMIM:616282 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra... |
OMIM:122860 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... |
OMIM:619042 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
| Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy |
OMIM:611369 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis, Sp... |
OMIM:620323 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... |
OMIM:611067 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... |
OMIM:620068 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex... |
OMIM:602484 |
| Extensor Tendons Of Finger Anomalies |
|
Multiple lipomas, Camptodactyly of finger, Skeletal muscle atrophy |
ORPHA:3294 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Frequent falls, Spinal rigidity, Hyperlordosis, Rigidity, Dilated cardiomyopathy, L... |
OMIM:161800 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... |
OMIM:607088 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... |
OMIM:616852 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, P... |
OMIM:619216 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ... |
OMIM:610687 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
| Diastrophic Dysplasia |
|
Recurrent respiratory infections, Increased bone mineral density, Depressed nasal bridge, Camptod... |
ORPHA:628 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Scoliosis, Distal lower limb muscle... |
OMIM:605285 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:98853 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla... |
OMIM:160500 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations |
OMIM:615048 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... |
OMIM:617760 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... |
OMIM:607641 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... |
OMIM:136300 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Flexion contracture, To... |
OMIM:618524 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy |
ORPHA:157973 |
| Bronchogenic Cyst |
|
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur... |
ORPHA:2357 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Dilated cardiomyopathy, Elb... |
ORPHA:206546 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia |
ORPHA:1766 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... |
OMIM:616081 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98855 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death, Retrognathia, Joint hypermob... |
OMIM:300219 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness |
OMIM:166700 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis |
OMIM:613710 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Ataxia, Hemiplegia/hemiparesis |
ORPHA:2074 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Slender build |
ORPHA:352470 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations |
OMIM:182980 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... |
OMIM:609308 |
| Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Flexion contracture, Spastic parap... |
OMIM:613162 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... |
ORPHA:266 |
| Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Intrinsic hand muscle at... |
ORPHA:3115 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis |
OMIM:615198 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Distal amyot... |
OMIM:607684 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Ataxia, Tongue fasciculations, Type 1 muscle fiber predominance, Tetrapa... |
OMIM:618276 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... |
OMIM:253700 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column |
OMIM:602475 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
| Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal... |
OMIM:215045 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Recurrent... |
ORPHA:2314 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damag... |
OMIM:278780 |
| Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion contractu... |
ORPHA:75840 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... |
OMIM:613205 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Claw hand deformity, Spinal muscular atrophy, Babinski sign, Distal amyotrophy, Foot dorsiflexor ... |
OMIM:605726 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Scoli... |
ORPHA:2590 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Choanal atresia, Dyspnea, Hemivertebrae, ... |
ORPHA:2759 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... |
OMIM:253400 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... |
ORPHA:566943 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... |
ORPHA:101077 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis |
OMIM:618323 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Increased connective tissue, Tongue fasciculation... |
ORPHA:238329 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Abn... |
ORPHA:3152 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita, Spasticity |
OMIM:162370 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Failure to thrive, Multiple joint contractures, Foot joint contr... |
ORPHA:536516 |
| Scedosporiosis |
|
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab... |
ORPHA:449280 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Lipodystrophy, Myopathy, Abdomi... |
OMIM:615980 |
| Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Ovoid vertebral bodies,... |
ORPHA:163649 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Premature graying of h... |
OMIM:619903 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... |
ORPHA:86812 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Flexion contracture, Pro... |
OMIM:607706 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spas... |
OMIM:616907 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Anteverted nares, Re... |
ORPHA:536467 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:613723 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal amyotrophy, Hypertonia, Scoliosis,... |
OMIM:609260 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, ... |
OMIM:615156 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... |
ORPHA:496689 |
| Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Camptodactyly of finger, Joint stiffness, Atelectasis, Tracheomalacia, Synos... |
ORPHA:896 |
| Metatropic Dysplasia |
|
Relatively short spine, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchondral ossification,... |
OMIM:156530 |
| C1Q Deficiency 2 |
|
Arthritis, Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis |
OMIM:620321 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
| Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogryposis |
OMIM:616287 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Frequent falls, Achilles t... |
ORPHA:353 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss |
ORPHA:52416 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Increased connective tissue, Dilated cardiomyopathy, Macroglossia, Calf ... |
OMIM:616827 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sig... |
ORPHA:3208 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr... |
ORPHA:763 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spasticity, Spastic paraplegia |
OMIM:615683 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Babinski sign, Proximal amyotrophy, Pr... |
ORPHA:2596 |
| Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Flexion contracture, Spastic parap... |
OMIM:312920 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... |
OMIM:611588 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... |
OMIM:620285 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Spinal muscular atrophy, Spastic tetraplegia, Distal amyotrophy, Scoliosis, Spasticity, F... |
OMIM:617207 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... |
OMIM:603034 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... |
OMIM:617114 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
| Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Crack... |
ORPHA:99931 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
| Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Hamartoma, Weight loss |
ORPHA:141152 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil... |
OMIM:244400 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Musc... |
OMIM:613156 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
| Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Neoplasm, Paralysis |
ORPHA:132 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Multiple joint contractures, Respiratory insufficiency, Respirato... |
ORPHA:370968 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Spast... |
ORPHA:247604 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Dys... |
OMIM:610357 |
| Myopathy, Myofibrillar, 6 |
|
Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Myofibrillar myopathy, Diaph... |
OMIM:612954 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnormality of the ... |
OMIM:276950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Scoliosis, Hypertrichosis |
OMIM:618244 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Urinary incontinence, Ab... |
ORPHA:309162 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Centrally nucleated ... |
OMIM:619542 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Micrognathia, Wide nasal bridge, Pulmonary hypoplasia, Neonatal death, Retrognathia |
OMIM:615524 |
| Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormality of chromosome stability, Hypo... |
ORPHA:100 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Foot dorsiflex... |
OMIM:613287 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased variability i... |
OMIM:253601 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy, Scoliosis, Hyperlordosis |
ORPHA:408 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density, Taurodontia |
OMIM:190320 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Scoliosis |
ORPHA:101078 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Frequent falls, Hand muscle weakness, Quadriceps muscle weakness,... |
ORPHA:99948 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormality of the vertebral column, Osteopetrosis, ... |
OMIM:607634 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Weight loss, Macroglossi... |
ORPHA:2221 |
| Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis,... |
ORPHA:59 |
| Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Dyspnea, Abnormal form of... |
ORPHA:3015 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... |
ORPHA:435387 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... |
ORPHA:454836 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Flexion contracture, Respiratory insufficiency, Respiratory... |
OMIM:618186 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Inguinal hernia, Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy,... |
OMIM:301830 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Depressed nasal bridge, Hypoplastic frontal sinuses, Limitation o... |
ORPHA:90650 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abn... |
OMIM:620233 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar s... |
ORPHA:3041 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Death in infancy, Depressed n... |
OMIM:259775 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia, Bulbous nose, Wide nasal bridge, Respiratory insuff... |
ORPHA:1237 |
| Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skeletal muscle atrophy, Progressive flexion contractures, Gingival fib... |
ORPHA:2028 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae,... |
ORPHA:79345 |
| Anauxetic Dysplasia 2 |
|
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Short nec... |
ORPHA:1798 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Atrophic scars, Hernia |
ORPHA:300179 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Urinary incontinence, Babinsk... |
OMIM:270800 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Spastic gait |
OMIM:619966 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Lacticaciduria, Distal amyotrophy, Tongue fasciculations, Scoliosis,... |
OMIM:618811 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co... |
OMIM:248800 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Fasciculations, Weight loss |
ORPHA:84142 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Lymphoma, Decreased body weight |
ORPHA:477814 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Porphyria, Acute Hepatic |
|
Elevated urinary delta-aminolevulinic acid, Failure to thrive, Respiratory paralysis, Paralysis |
OMIM:612740 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia, Scoliosis |
OMIM:618184 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Thenar muscle atrop... |
OMIM:604360 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Obesity, Scoliosis |
OMIM:616756 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Fatty replacement of skeletal muscle, Cardiomyopathy, Abnormality of the vertebral... |
ORPHA:52430 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... |
ORPHA:101097 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Multiple joint contractures, Micrognathia, Respiratory insufficienc... |
OMIM:618291 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Ataxia, Tremor, Kyphosis, Nephropathy, Fl... |
ORPHA:87876 |
| Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Adrenocortical adenoma, Incre... |
ORPHA:681 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Intrinsic h... |
OMIM:616688 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Micrognathia, Atelectasis, Recurrent pneumonia, Wide ... |
OMIM:613177 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
| Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral b... |
ORPHA:577 |
| Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
| Familial Colorectal Cancer Type X |
|
Flexion contracture, Abnormal pyramidal sign, Hypertonia, Neoplasm of the breast, Renal neoplasm,... |
ORPHA:440437 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Hyperlordosis, Atelectasis, Flexion ... |
ORPHA:258 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Diaphragmatic paralysis, Plantar flexion contracture, Arthrogryposis-lik... |
OMIM:620011 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria |
OMIM:618251 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titu... |
ORPHA:300605 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Truncal obesity, Irregu... |
OMIM:618363 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Urinary incontinence, Opisthotonus, Spastic... |
OMIM:205100 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... |
OMIM:602771 |
| Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
| Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphragmatic paralysis |
ORPHA:868 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Tongue fasciculations, Spinal muscular atrophy, Hand tremor |
OMIM:253550 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Chorea, Right ventricular dilatation,... |
ORPHA:369840 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Fried Syndrome |
|
Skeletal muscle atrophy, Spastic diplegia, Scoliosis |
ORPHA:85335 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Lower limb spasticity, Postural tremor, Thenar muscle atrophy, Thenar muscle weakness, Babinski s... |
OMIM:270685 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory fa... |
OMIM:620278 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... |
ORPHA:90103 |
| Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski... |
OMIM:613954 |
| Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Retrognathia, Respiratory insufficiency |
OMIM:615330 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... |
ORPHA:169186 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior bea... |
OMIM:230650 |
| Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, High anterior hairline, Congenital foot contra... |
OMIM:314580 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Urinary incontinence, Babinski s... |
ORPHA:100988 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... |
ORPHA:324604 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, Spina bif... |
ORPHA:2780 |
| Typical Nemaline Myopathy |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Limb-gir... |
ORPHA:171436 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Lymphoma, Breast carcinoma, Weight loss |
ORPHA:86893 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia |
OMIM:303350 |
| Huntington Disease-Like 2 |
|
Chorea, Involuntary movements, Parkinsonism, Weight loss |
ORPHA:98934 |
| Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Vocal cord paralysis, Weight loss, Neoplasm of the lung, Maligna... |
ORPHA:142 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Abnormal pulmon... |
ORPHA:77259 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Hepatomegaly, Hepatic bridging fibrosis, Tremor, Limb ataxia, Gait ataxi... |
OMIM:616719 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia |
ORPHA:3454 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita, Widening ... |
OMIM:253310 |
| Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Bradykinesia, Athetosis, Scoliosis, Spasticity, Upper motor neuron dysfu... |
OMIM:500001 |
| 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 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Vocal cord paresis, Intrinsic hand muscle atrophy, Gait ataxia, Distal a... |
OMIM:614895 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Weakness of facial musculature, Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... |
OMIM:312170 |
| Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hirsutism, Ataxi... |
ORPHA:354 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... |
OMIM:254090 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated urinary 3-hydroxyb... |
ORPHA:42 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Limb joint contracture, K... |
OMIM:612079 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Kyphoscoliosis, Abnormal pyramidal sign, Spastic paraparesis, Joint cont... |
OMIM:260600 |
| Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Weight loss, Neoplasm of the central nervous system, Neoplasm of ... |
ORPHA:69077 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death |
OMIM:245650 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou... |
OMIM:610965 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... |
OMIM:614856 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... |
ORPHA:70 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Short neck, Bulbous nose, Stillbirth, Ch... |
OMIM:236500 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair,... |
ORPHA:902 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
| Sandestig-Stefanova Syndrome |
|
Short neck, Wide nasal bridge, Respiratory failure, Camptodactyly, Retrognathia, Convex nasal ridge |
OMIM:618804 |
| Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Neoplasm of the larynx, Weight loss |
ORPHA:100083 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Ataxia, Thick hair, Rigidity, Scoliosis |
OMIM:618239 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares... |
ORPHA:480 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Abnormal pyramidal sign, Cardiomyopathy, Lower limb hypertonia, Progressiv... |
ORPHA:1177 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:101081 |
| Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion contracture, Osteop... |
ORPHA:333 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Dystrophic fingernails, Dystrophic toenail, Hyperlordosis |
ORPHA:970 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Ventricular septal defect, Ectopic kidney, Flexion contracture, Anteri... |
OMIM:227645 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Scoliosis |
ORPHA:98896 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Anteverted nares, Depress... |
OMIM:610015 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... |
OMIM:608340 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Muscular dystrophy, Scoliosis, Generalized amyotrophy, Joint contracture |
OMIM:616516 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Kyphoscoliosis, Flexion contracture, Babinski sign, Spastic paraplegia, Dy... |
OMIM:275900 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Kyphosis, Scoliosis |
ORPHA:2047 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Hyperlordosis, Spinal rigidity, Centr... |
OMIM:613327 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Skeletal muscle atrophy, Scoliosis |
ORPHA:330050 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle fibers, Babinski... |
OMIM:258450 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M... |
OMIM:224300 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Becker Nevus Syndrome |
|
Hamartoma, Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder... |
ORPHA:64755 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Wide nasal bridge, Respiratory failure |
ORPHA:168486 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ataxia, Scoliosis |
ORPHA:1188 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tongue fasciculations, Arthrogryposis multiplex congenita, Spast... |
ORPHA:2254 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral hei... |
OMIM:616817 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Scoliosis, Joi... |
OMIM:615704 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Vertebral arc... |
ORPHA:85184 |
| Trichothiodystrophy |
|
Sparse scalp hair, Multiple joint contractures, Ventricular septal defect, Brittle hair, Absence ... |
ORPHA:33364 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Cerebral palsy, Hemangiomatosis, Neo... |
ORPHA:163634 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Skeletal muscle atrophy, Shoulder flexion... |
OMIM:255800 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... |
OMIM:253600 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure, Retrognathia |
ORPHA:1194 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Lumbar hyperlordosis, Hypertonia |
OMIM:617054 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... |
OMIM:259710 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Cardiomyopathy, Scoliosis, Weakness of facial m... |
ORPHA:329336 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Babinski sign, Upper limb amyotrophy, Upper limb... |
OMIM:616924 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Increased bone mineral density, Neonatal respiratory distress, Depressed na... |
OMIM:119600 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness |
ORPHA:97229 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness |
OMIM:137200 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve, Hyperlordosis |
OMIM:617450 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Lipodystrophy, Hepatocellular carcinoma, Elbow ... |
OMIM:616200 |
| Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, D... |
OMIM:310200 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Kyphoscoliosis, Spar... |
ORPHA:75496 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Thoracic kyphoscoliosis, Restrictive ventilatory defect, Respi... |
ORPHA:98913 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognath... |
ORPHA:50945 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Left ventricular hypertrophy, Hypertrop... |
OMIM:618228 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:255160 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... |
OMIM:620296 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Apnea, Anteverted nares, Depressed nasal bridge, Flexion contractu... |
OMIM:617301 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Scoliosis, Joint contracture |
OMIM:617481 |
| Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, Scoliosis, Hydronephrosis |
OMIM:618578 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Torticol... |
ORPHA:370348 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micrognathia, Short neck, Wrist flexion contracture, Death in infancy, Increased bone mine... |
ORPHA:800 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Urinary incontinence, Upper limb muscle weakness, Scoliosis, Distal lowe... |
OMIM:615284 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Geleophysic Dysplasia 3 |
|
Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement, Depressed nasal brid... |
OMIM:617809 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
| Mcdonough Syndrome |
|
Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Kyphos... |
ORPHA:812 |
| Alg1-Cdg |
|
Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Depressed nasal bridge, Camptodactyly of finger, Tarsal synostosi... |
ORPHA:90652 |
| Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Depressed nasal bridge, Pulmonary hypoplasia |
OMIM:617895 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gall... |
ORPHA:349 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa... |
OMIM:232500 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Anteverted nares, Bulbous nose, Flexion contracture, Respiratory failure, Scoliosis |
OMIM:616505 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micrognathia, Wide nasal bridge, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death,... |
OMIM:224410 |
| Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
| Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis multiplex congenita,... |
ORPHA:85278 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... |
OMIM:300559 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Kyphosis, Resp... |
OMIM:616482 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper... |
OMIM:619980 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Babinski... |
OMIM:128100 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
| Polymyositis |
|
Hepatomegaly, Pericarditis, Abnormal muscle fiber morphology, Dilated cardiomyopathy, Breast carc... |
ORPHA:732 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... |
ORPHA:365 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Short neck, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal d... |
OMIM:269860 |
| Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Micrognathia, Abnormality of the nose, An... |
ORPHA:35107 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Weight loss, Neoplasm of the skin, Generalized hirsutism |
ORPHA:317 |
| Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... |
ORPHA:254854 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
