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 |
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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 |
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Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
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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 |
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Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Spastic Paraplegia 62, Autosomal Recessive |
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Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Babinski sign, Spasti... |
OMIM:615681 |
Autosomal Recessive Spastic Paraplegia Type 63 |
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Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity |
ORPHA:401805 |
Spastic Paraplegia 38, Autosomal Dominant |
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Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Babinsk... |
OMIM:612335 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Autosomal Recessive Spastic Paraplegia Type 76 |
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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 |
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Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Immunodeficiency 95 |
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Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Spinal Muscular Atrophy, Type I |
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Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... |
OMIM:300718 |
Spastic Paraplegia 77, Autosomal Recessive |
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Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... |
OMIM:617046 |
Lethal Osteosclerotic Bone Dysplasia |
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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 |
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Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... |
OMIM:300717 |
Xeroderma Pigmentosum, Complementation Group F |
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Ataxia, Seborrheic keratosis, Tremor, Flexion contracture, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Spastic Paraplegia 31, Autosomal Dominant |
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Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Ankle clonus, ... |
OMIM:610250 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
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Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proxim... |
OMIM:617404 |
Lethal Congenital Contracture Syndrome 4 |
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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 |
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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 |
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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 |
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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 |
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Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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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 |
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Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Amyotrophic Lateral Sclerosis Type 4 |
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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 |
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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 |
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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 |
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Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Lethal Congenital Contracture Syndrome 3 |
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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 |
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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 |
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Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:255160 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
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Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... |
OMIM:620296 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
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Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Glycine Encephalopathy With Normal Serum Glycine |
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Joint laxity, Hip contracture, Apnea, Anteverted nares, Depressed nasal bridge, Flexion contractu... |
OMIM:617301 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Scoliosis, Joint contracture |
OMIM:617481 |
Congenital Myopathy 19 |
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Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, Scoliosis, Hydronephrosis |
OMIM:618578 |
Peripheral Primitive Neuroectodermal Tumor |
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Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Torticol... |
ORPHA:370348 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Schwartz-Jampel Syndrome |
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Apnea, Micrognathia, Short neck, Wrist flexion contracture, Death in infancy, Increased bone mine... |
ORPHA:800 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
Charcot-Marie-Tooth Disease, Type 4B3 |
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Skeletal muscle atrophy, Urinary incontinence, Upper limb muscle weakness, Scoliosis, Distal lowe... |
OMIM:615284 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology |
ORPHA:275872 |
Geleophysic Dysplasia 3 |
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Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement, Depressed nasal brid... |
OMIM:617809 |
Charcot-Marie-Tooth Disease Type 1F |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
Mcdonough Syndrome |
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Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Sialidosis Type 1 |
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Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Kyphos... |
ORPHA:812 |
Alg1-Cdg |
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Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Otopalatodigital Syndrome Type 2 |
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Increased bone mineral density, Depressed nasal bridge, Camptodactyly of finger, Tarsal synostosi... |
ORPHA:90652 |
Ck Syndrome |
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Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Respiratory failure, Depressed nasal bridge, Pulmonary hypoplasia |
OMIM:617895 |
Fucosidosis |
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Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gall... |
ORPHA:349 |
Glycogen Storage Disease Iv |
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Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa... |
OMIM:232500 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Anteverted nares, Bulbous nose, Flexion contracture, Respiratory failure, Scoliosis |
OMIM:616505 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Micrognathia, Wide nasal bridge, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death,... |
OMIM:224410 |
Spinocerebellar Ataxia Type 3 |
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Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Christianson Syndrome |
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Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis multiplex congenita,... |
ORPHA:85278 |
Glycogen Storage Disease Ixd |
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Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... |
OMIM:300559 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Kyphosis, Resp... |
OMIM:616482 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
Braddock-Carey Syndrome 1 |
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Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper... |
OMIM:619980 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Babinski... |
OMIM:128100 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Death in infancy, Respiratory failure |
OMIM:619386 |
Amish Nemaline Myopathy |
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Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Polymyositis |
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Hepatomegaly, Pericarditis, Abnormal muscle fiber morphology, Dilated cardiomyopathy, Breast carc... |
ORPHA:732 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... |
ORPHA:365 |
Nathalie Syndrome |
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Skeletal muscle atrophy |
OMIM:255990 |
Idiopathic Achalasia |
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Weight loss |
ORPHA:930 |
Short-Rib Thoracic Dysplasia 12 |
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Natal tooth, Short neck, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal d... |
OMIM:269860 |
Desmosterolosis |
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Increased bone mineral density, Depressed nasal bridge, Micrognathia, Abnormality of the nose, An... |
ORPHA:35107 |
Erythrokeratodermia Variabilis |
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Alopecia, Abnormal hair morphology, Weight loss, Neoplasm of the skin, Generalized hirsutism |
ORPHA:317 |
Juvenile Huntington Disease |
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Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Pure Mitochondrial Myopathy |
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Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... |
ORPHA:254854 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Small for gestational age, Camptodactyly of finger, Spinal muscular atrophy, Urinary incontinence... |
OMIM:604320 |
Aredyld Syndrome |
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Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormality of the ureter... |
ORPHA:1133 |
Bare Lymphocyte Syndrome, Type I |
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Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Ataxia With Vitamin E Deficiency |
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Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Dentin Dysplasia With Sclerotic Bones |
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Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Infantile Myofibromatosis |
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Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... |
ORPHA:2591 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Tricho-Dento-Osseous Syndrome |
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Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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Skeletal muscle atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Scoliosis, Joint contracture |
OMIM:615419 |
Autosomal Recessive Spastic Paraplegia Type 26 |
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Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Scoliosis |
ORPHA:101006 |
Diencephalic Syndrome |
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Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Spinocerebellar Ataxia 48 |
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Ataxia, Parkinsonism, Cachexia, Urinary incontinence, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Familial Cervical Artery Dissection |
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Abnormality of connective tissue, Facial palsy, Paralysis |
ORPHA:36382 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Proteinuria, Hyperlordosis, Tremor, Nephrotic syndrome, Hypertonia, Abnormal mitral valve morphol... |
ORPHA:1192 |
Eosinophilic Fasciitis |
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Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema |
ORPHA:3165 |
Mast Cell Sarcoma |
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Sarcoma, Hepatomegaly, Weight loss |
ORPHA:66661 |
Neuraminidase Deficiency |
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Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Urinary excretion of sialylated oligosacc... |
OMIM:256550 |
Fucosidosis |
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Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... |
OMIM:230000 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Facioscapulohumeral Dystrophy |
|
Abnormal eyelash morphology, Skeletal muscle atrophy, Hyperlordosis |
ORPHA:269 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis |
OMIM:616684 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Weight loss |
ORPHA:2198 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response, Kyphosis, Babinski sign, Flexion contracture, Spastic paraplegia, A... |
OMIM:609541 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Skeletal muscle atrophy, Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria, Generalized hir... |
ORPHA:1933 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
Myopathy, Mitochondrial, And Ataxia |
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Ataxia, Thick hair, Tremor, Dysmetria, Limb ataxia, Multiple lipomas, Distal amyotrophy, Dysdiado... |
OMIM:617675 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Hypertonia... |
OMIM:616801 |
Variegate Porphyria |
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Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Par... |
OMIM:176200 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth... |
ORPHA:171430 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Disti... |
OMIM:600462 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Pseudohypoparathyroidism Type 1B |
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Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Short neck, Dy... |
ORPHA:94089 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
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Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
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Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Urina... |
OMIM:606071 |
Congenital Fiber-Type Disproportion Myopathy |
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Hip contracture, Recurrent respiratory infections, Ankle flexion contracture, Micrognathia, Hyper... |
ORPHA:2020 |
Wilson Disease |
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Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Increase... |
ORPHA:905 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Immune-Mediated Necrotizing Myopathy |
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Skeletal muscle atrophy, Myositis, Scapular winging, Myocarditis, Proximal muscle weakness in low... |
ORPHA:206569 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Weight loss, Neoplasm of t... |
ORPHA:83469 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Kyphosis, Obesity, Hyperlordosis |
ORPHA:3085 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Inguinal hernia, Failure to thrive |
OMIM:618603 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Advanced pneuma... |
ORPHA:85188 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy |
OMIM:614862 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexio... |
ORPHA:367 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Sclerotic vertebral endplates, Recurrent fractures |
OMIM:611490 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Aminoaciduria, Weight loss |
ORPHA:79238 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Respiratory failure, Stillbir... |
OMIM:259720 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Ataxia, Poor coordination, Limb ataxia, Decreased body weight, Spasticity |
OMIM:617695 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Cachexia, Visceral angiomatosis, Lymphom... |
ORPHA:109 |
Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Abnormal dental enamel morphology, Patc... |
ORPHA:2323 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Short neck, Weight loss, Hernia, Atrial septal defect, Hypertrophic cardiomyopathy,... |
ORPHA:1842 |
Myotonia Permanens |
|
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Hypertonia, Hyperlordosis |
ORPHA:99735 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Babinski ... |
ORPHA:88644 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Scoliosis |
ORPHA:101082 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis |
OMIM:615761 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... |
ORPHA:2905 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... |
OMIM:614487 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Hyperlord... |
ORPHA:26791 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ... |
ORPHA:298 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... |
ORPHA:157941 |
Acquired Ichthyosis |
|
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... |
OMIM:312750 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, P... |
OMIM:619487 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Wide nasal bridge, Depressed nasal bridge, Osteopetrosis |
ORPHA:1522 |
Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Weight loss, Neoplasm of the lung, Neopl... |
ORPHA:99867 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, EMG: myo... |
OMIM:615418 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Short neck, Flexion contracture, Ur... |
ORPHA:261290 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Postural tremor, Abnormal pyramidal sign, Proximal amyotrophy, Distal am... |
OMIM:608627 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Flexion contracture, Tongue fasciculations, Oculomotor apraxia, Spasticity |
OMIM:614678 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis, ... |
ORPHA:449285 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Spasticity, Tetraparesis |
OMIM:617892 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Facial palsy, Abnormal muscle fiber morphology, Hyp... |
ORPHA:3068 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Mitral valve prolapse, Knee fl... |
OMIM:606631 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Prominent nasal bridge, Micrognathia, Osteopoikilosis, Scoliosis, Abnormal nostril mor... |
ORPHA:94063 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, Sh... |
OMIM:114300 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Limb muscle weakness, Distal amyotrophy, Scoliosis, Vocal cord paresis |
OMIM:601152 |
Solitary Fibrous Tumor |
|
Low back pain, Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Weight loss, Neoplasm of... |
ORPHA:2126 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Micrognathia, Fractures of the long bones, Re... |
ORPHA:496641 |
Sézary Syndrome |
|
Skeletal muscle atrophy, Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Tremor, Lymphoma, Nai... |
ORPHA:3162 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Myopat... |
OMIM:162300 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Lymphoma, Weight loss, Neoplasm |
ORPHA:391 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ra... |
OMIM:607459 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... |
OMIM:137440 |
Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Kyphoscoliosis |
ORPHA:251383 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Upper motor neuron dysfunction |
OMIM:612577 |
Three M Syndrome 1 |
|
Scapular winging, Small for gestational age, Hypospadias, Hyperlordosis, Short neck, Increased ve... |
OMIM:273750 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Failure to thrive, Horseshoe kidney, Scoliosis, Hyperlordosis |
OMIM:617352 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Bu... |
OMIM:618476 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Lower limb spasticity, Lower limb muscle weakness, Babinski sign, Spastic paraplegia, Upper limb ... |
ORPHA:100986 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Platyspondyly, Neoplasm, Hemang... |
ORPHA:296 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia |
OMIM:105550 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia |
OMIM:607598 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Tremor, Elevated urinary d... |
ORPHA:94080 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlord... |
OMIM:253000 |
Zygomycosis |
|
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Pulmonary infiltrates, Acute infecti... |
ORPHA:73263 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Spasticity, Fasciculations |
OMIM:614808 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tremor, Flexion contracture, Low anterior hairline, Limb tremor, Facial ... |
OMIM:218000 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Clo... |
ORPHA:370959 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Paralysis |
OMIM:612300 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Death in infa... |
ORPHA:534 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Hand muscle weakness |
OMIM:162500 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Distal a... |
ORPHA:320406 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Ectopic kidney, Horseshoe kidney, Abnormal heart morphology, Deficient... |
OMIM:600901 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine lev... |
OMIM:256700 |
Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Alopecia, Abnormal hairshaft morphology, Hypospadias, Cachexia, Thin eye... |
ORPHA:3242 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Copper accumulation in live... |
OMIM:616828 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Inguinal hernia, Hypospadias, Tetraplegia, Opisthotonus, Hypertonia, Fai... |
OMIM:619272 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis, Weight loss |
OMIM:188580 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Cardiomegaly, Hyperlo... |
ORPHA:268 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis |
OMIM:603285 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Dyspnea, Osteolysis, Abnormal pulmonary interstiti... |
ORPHA:35687 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Capillary ... |
ORPHA:573278 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276241 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Abnormal zygomatic bone morphology, Pulmonary artery sten... |
ORPHA:3342 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Hypertrophic card... |
ORPHA:251071 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ataxia, Clonus, Ragged-red muscle fibers, Abnormal pyramidal sign, Babin... |
OMIM:616479 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Generalized osteosclerosis, Total anoma... |
OMIM:602398 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Weight loss, Bradykin... |
ORPHA:399 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor function, Scoli... |
OMIM:619527 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Prematu... |
OMIM:112250 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Ectopic kidney, Horseshoe kidney, Abnormal heart morphology, Deficient... |
OMIM:227650 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma ... |
ORPHA:653 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, A... |
ORPHA:1328 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Highly arched eyebrow, Short neck, Secundum atrial septal defect, Babins... |
OMIM:615802 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fiber... |
OMIM:620138 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidity, Babinski sign, Dysmetria, ... |
OMIM:183090 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Exostoses |
OMIM:165800 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetrapl... |
OMIM:616586 |
Intellectual Disability And Myopathy Syndrome |
|
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Abnormal pyramidal sign, Upper limb muscle w... |
ORPHA:254930 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Spasticity, Babinski sign |
OMIM:612069 |
Xeroderma Pigmentosum, Complementation Group A |
|
Ataxia, Defective DNA repair after ultraviolet radiation damage, Choreoathetosis, Melanoma, Squam... |
OMIM:278700 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Hypospadias |
ORPHA:2013 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Spastic tetraplegia, Knee flexi... |
ORPHA:371364 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Dysmetria, Abnormality of masti... |
ORPHA:98755 |
Kaposi Sarcoma |
|
Lymphoproliferative disorder, Neoplasm by anatomical site, Weight loss, Abnormality of the liver,... |
ORPHA:33276 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, A... |
OMIM:618870 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Nephritis |
OMIM:274240 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Scoliosis, A... |
ORPHA:559 |
Follicular Lymphoma |
|
Lymphoma, Weight loss |
ORPHA:545 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... |
OMIM:603387 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy |
OMIM:614932 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Babinski sign, Dysme... |
OMIM:270550 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Abnormal heart... |
ORPHA:85323 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Flexion contracture, Retrognathia, Respir... |
ORPHA:254528 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:620378 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... |
OMIM:211530 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Neurogenic bladder, Babinski sign, Abnormal pyramidal sign, Progressive ... |
ORPHA:513436 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosi... |
OMIM:617710 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Joint contracture of the hand, Scoliosis, ... |
OMIM:609033 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Depressed nasal bridge, Pro... |
ORPHA:647 |
Gaucher Disease |
|
Osteopenia, Death in infancy, Increased bone mineral density, Osteomyelitis, Recurrent fractures,... |
ORPHA:355 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Retrognathia |
ORPHA:2707 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:257200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Ataxia, Hyperlordosis, Mitral valve prolapse, Hypertonia, Scoliosis, Atrial septal de... |
OMIM:300986 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hepatitis, Weight loss, Neoplasm, Cellulitis, Failure to thrive |
ORPHA:47 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... |
OMIM:605013 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Truncal atax... |
ORPHA:352641 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Adipose tissue loss, Long penis, Cholestasis, Hepatic fibrosis, Severe f... |
OMIM:246200 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelas... |
OMIM:619451 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy, Hypospadias, Highly arched eyebrow |
OMIM:619759 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture |
ORPHA:457205 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Scoliosis, Shagreen patch |
ORPHA:2511 |
22Q11.2 Deletion Syndrome |
|
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Carious teeth, Atelectasis, Ast... |
ORPHA:567 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... |
OMIM:614153 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Neoplasm, Kyphosis, Skeletal muscle atrophy |
OMIM:219080 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Bulbous nose, Elbow flexion contracture, ... |
OMIM:608836 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hyp... |
OMIM:253010 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy |
ORPHA:99944 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cachexia, Hamartomatous polyposis, Dystrophic toenail, Neoplasm, Patchy a... |
ORPHA:2930 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Lipodystrophy, Neoplasm of the skeletal system, Paralysis, Rigidity, Visceral angiomato... |
ORPHA:2396 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... |
OMIM:131300 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... |
OMIM:300232 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Babinski sign, Prominent eyelashes, Hyperkinetic movements, Spasticity, ... |
OMIM:616420 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... |
OMIM:614300 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Renal cyst, Abnormal heart morphology, Wei... |
ORPHA:400 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276244 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Facial hypotonia, Mitral val... |
OMIM:216550 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... |
ORPHA:43 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Tachypnea, Rickets, Abnormal pulmonary interstitial morphology, Respira... |
OMIM:613658 |
Nephroblastoma |
|
Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hematuria, Neoplasm, Nephroblastoma |
ORPHA:654 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hypertonia, Opisthotonus |
OMIM:616896 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Proximal limb muscle ... |
OMIM:184850 |
Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Ataxia, Abnormal pericardium morphology, Cholangitis, Portal hypert... |
ORPHA:284 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Gait ataxia, Cardiomyopathy... |
OMIM:620089 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Cowden Syndrome |
|
Neoplasm of the central nervous system, Hamartomatous polyposis, Neoplasm, Papilloma, Conjunctiva... |
ORPHA:201 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Small for gestational age, Methylmalonic aciduria, Athetosis, Facial dip... |
OMIM:612073 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Highly arched eyebrow, Hyperlordosis, Short neck, Elbow flexion contractur... |
OMIM:615065 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:276621 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Choanal... |
ORPHA:2658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Flexion contracture, Hyperkinetic movement... |
OMIM:300243 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Ataxia, Flexion contracture, Spasticity, Failur... |
ORPHA:481152 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, ... |
OMIM:619183 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Fasciculations |
OMIM:616437 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Increased connective tissue, Hiatus hernia,... |
OMIM:606408 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, Facial diplegia, Facial paralysis, Failure to thrive |
OMIM:613559 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Low ant... |
OMIM:617796 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... |
ORPHA:466768 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... |
ORPHA:96334 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Ataxia, Hyposp... |
OMIM:615471 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney d... |
ORPHA:110 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Urinary incontinence, Hiatus hernia, Hoffmann sign, Babins... |
OMIM:601162 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Complex organic ac... |
ORPHA:506 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... |
ORPHA:143 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... |
OMIM:278740 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Chronic pulmonary obstruction, ... |
ORPHA:125 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Gr... |
ORPHA:582 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hemiplegia/hemiparesis, Ren... |
ORPHA:156 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Rhabdomyolysis, Nocturia, Enuresis, Hypocal... |
OMIM:263800 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Obesity, Sparse hair, Oculomotor apraxia, Micropenis, Hydrone... |
OMIM:619185 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Upper li... |
ORPHA:320375 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... |
OMIM:184250 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Obesity, Nephrolithiasis, Abdominal obesity... |
OMIM:219090 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine,... |
OMIM:619698 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... |
ORPHA:2636 |
Distal Deletion 10Q |
|
Scapular winging, Lumbar hyperlordosis, Ataxia, Clonus, Oculomotor apraxia, Functional abnormalit... |
ORPHA:96148 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... |
OMIM:613254 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity, Scoli... |
OMIM:618443 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Hyperlordosis, Tremor, Chore... |
OMIM:615356 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Glossopharyngeal Neuralgia |
|
Schwannoma, Vocal cord paralysis, Weight loss, Neoplasm, Abnormality of the cervical spine |
ORPHA:221098 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Contractures of the large joints, Thoracic scoliosis, Skeletal muscle atrophy |
OMIM:616716 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Vocal cord paralysis, Intrinsic hand muscle atrophy, Knee flexion contracture |
OMIM:615490 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Small for gestational age, Secundum atrial septal defect, Glandular hypospa... |
ORPHA:1439 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Myoclonus, Failure to thrive |
ORPHA:95428 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... |
OMIM:278720 |
3M Syndrome |
|
Scapular winging, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Incr... |
ORPHA:2616 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck |
OMIM:612921 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... |
ORPHA:368 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy |
OMIM:205250 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Short neck, Dy... |
ORPHA:79444 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Chorea, Babinski sign, Dysmetria, Limb ataxia, Progressive cerebellar at... |
OMIM:164400 |
Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Supernumerary nipple, Babinski sign, Abnormal pyramidal sign, Failure to... |
OMIM:617339 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Spasticity, Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Tuberous Sclerosis 1 |
|
Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... |
OMIM:191100 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Vesic... |
OMIM:609625 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Lymphoproliferative disorder, Small for gestational age, Ovoid vertebral bo... |
ORPHA:1830 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response, Lumbar hyperlordosis, Paraspinal muscle hypertrophy |
ORPHA:3198 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Kyphosis, Osteoporosis |
OMIM:239000 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Macroglossia, Platy... |
OMIM:607095 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein... |
ORPHA:29072 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased bone mineral density, Abnormal pulmonary interstitial... |
ORPHA:77261 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Spasticity, Paralysis |
ORPHA:803 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Decreased urinary potassium, Rhabdomyolysis,... |
ORPHA:79102 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyph... |
ORPHA:85293 |
Oculoskeletodental Syndrome |
|
Hyperlordosis, Nephrocalcinosis, Abnormality of the frontal hairline, Thoracic kyphosis, Scoliosi... |
ORPHA:557003 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
Autoimmune Hypoparathyroidism |
|
Dyspnea, Increased bone mineral density |
ORPHA:36913 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Short neck, Dy... |
ORPHA:79443 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low posterior hairline, Scoliosis, Hyperlordosis |
ORPHA:1387 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Micronodu... |
OMIM:301072 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... |
OMIM:157640 |
Pseudomyxoma Peritonei |
|
Hernia, Weight loss |
ORPHA:26790 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... |
ORPHA:79139 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Single naris, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Scissor gait, Defective DNA repair after ultraviolet radiation damage, Cho... |
OMIM:278800 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Ectopic kidney, Horseshoe kidney, Abnormal heart morphology, Micropeni... |
OMIM:227646 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Abnormality of chromosome stability, Biconvex verteb... |
ORPHA:175 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, Ataxia, Knee flexion contractu... |
ORPHA:435638 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Abnormal liver parenchyma mor... |
ORPHA:1332 |
Chand Syndrome |
|
Atelectasis, Depressed nasal bridge, Agenesis of maxillary incisor |
ORPHA:1401 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Spinal rigidity, Dilated cardiomyopathy, F... |
OMIM:253800 |
Xeroderma Pigmentosum, Complementation Group D |
|
Ataxia, Defective DNA repair after ultraviolet radiation damage, Choreoathetosis, Melanoma, Spast... |
OMIM:278730 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... |
ORPHA:97289 |
Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... |
OMIM:614205 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Fasciitis, Dupuytren contracture, Lipodys... |
ORPHA:39812 |
Lissencephaly 8 |
|
Appendicular spasticity, Skeletal muscle atrophy |
OMIM:617255 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Pollakisuri... |
ORPHA:447760 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Lymphoma, Weight loss, Cellulitis |
ORPHA:47612 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Truncal obesity, Sparse hair, Camptodactyly of toe,... |
ORPHA:127 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... |
ORPHA:2522 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Depressed nasal ridge |
ORPHA:1861 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure to thrive, Medu... |
OMIM:143880 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Thoracic kyphosis, Hernia, Atrial septal defect, Patent foramen ... |
ORPHA:505248 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Ve... |
ORPHA:2461 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Dilated cardiomyopathy, Weight loss, EMG: myop... |
OMIM:164310 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia, Urinary incontinence |
OMIM:105300 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segmentation defect, Sc... |
ORPHA:1323 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Alopecia... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Alopecia... |
ORPHA:363958 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Weigh... |
ORPHA:465508 |
Peritoneal Cystic Mesothelioma |
|
Neoplasm, Weight loss |
ORPHA:168816 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Hypospad... |
ORPHA:17 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Spinocerebellar Ataxia Type 18 |
|
Skeletal muscle atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Lymphoma, Breas... |
ORPHA:221 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... |
ORPHA:58 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Hepatomegaly, Ataxia, Urinary incontinence... |
OMIM:268800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Frequent falls, Tongue fasciculations, Hand tremor |
OMIM:162400 |
Malignant Peritoneal Mesothelioma |
|
Neoplasm, Weight loss |
ORPHA:168811 |
Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Limitation of joint mobility, Arthritis, Cough, Abnormal pattern of respira... |
ORPHA:728 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of... |
ORPHA:2789 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Mi... |
OMIM:614969 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Short ... |
OMIM:300868 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Hyper... |
ORPHA:261330 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Squamous cell carcinoma, At... |
ORPHA:89842 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Prominent nasal bridge, Joint stiffness, Hypoplasia of t... |
OMIM:139210 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Hydroureter, Camptodactyly of finger, Interphalangeal ... |
OMIM:305620 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Pituitary a... |
ORPHA:189427 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Failure to thrive in infancy, Portal... |
OMIM:613385 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotr... |
OMIM:608779 |
Familial Pancreatic Carcinoma |
|
Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, ... |
ORPHA:1333 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Ataxia, Abnormality of Krebs cycle metabolism, Hypertonia, Abnormal urin... |
ORPHA:31 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Abnormal aortic va... |
ORPHA:3287 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Miscarriage, Cartilaginous ossification of nose,... |
OMIM:245150 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
3Mc Syndrome |
|
Diastasis recti, Highly arched eyebrow, Hyperlordosis, Supernumerary nipple, Prominent coccyx, Sc... |
ORPHA:293843 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Abnormal mitral valve morphology, Diastasis recti, Ky... |
ORPHA:576 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis |
OMIM:300857 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Kyphosis, Choreoathetosis, Scoliosis, Spasticity |
ORPHA:702 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Sparse eyebrow, Syn... |
OMIM:617193 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Low posterior hairline, Short neck |
ORPHA:1803 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Dilated cardiomyopathy, Cho... |
OMIM:615895 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Bradykinesia, Cholecystitis, Scoliosis, Failure to thrive |
ORPHA:778 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Prote... |
ORPHA:1018 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Low anterior hairline, Ataxia, Hyperlordosis, Unilateral renal hypoplasia, Scoliosis,... |
OMIM:619950 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Sclerosteosis 1 |
|
Mandibular prognathia, Depressed nasal bridge, Sclerotic scapulae, Dental malocclusion, Wide nasa... |
OMIM:269500 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Hemiparesis, Myopathy, Wea... |
ORPHA:98673 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Flexion co... |
OMIM:254940 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Convex nasal ridge, Patchy osteosclerosis, Micrognathia |
OMIM:241410 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Focal segmental glomerulosclerosis, ... |
OMIM:616239 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, ... |
ORPHA:79474 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal cardiac ventricle morphology, Abnormal h... |
ORPHA:85443 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis,... |
ORPHA:77258 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Aplasia/H... |
ORPHA:2990 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hematological neoplasm, Hepatosplenomegaly, Weight loss, Decreased liver fun... |
ORPHA:98850 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Camptodactyly of finge... |
ORPHA:2215 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Neoplasm, Thymoma, Proximal amyotrophy |
OMIM:159400 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Spasticity, High anterior hairline |
OMIM:618862 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Limited elbow ... |
OMIM:218040 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Paralysis, Pericardial effusion, Dec... |
ORPHA:358 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Increased sarcoplasmic glyc... |
ORPHA:264580 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Renal insufficiency, Proteinuria, Abnormal pericardium morphology, Myocarditis, Hemiple... |
ORPHA:183 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia |
ORPHA:3218 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... |
ORPHA:555874 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Osteopetrosis |
ORPHA:3240 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Atrial septal defect, Lower limb dysmetria, Ventricular septal defect, Kyphoscoliosis, Hyperlordo... |
ORPHA:363700 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Hematological neoplasm, Lymphoma, Weight lo... |
ORPHA:98849 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, B-c... |
ORPHA:91139 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se... |
ORPHA:3353 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nocturia, Hepatosplenomegaly, Weight loss, Myopat... |
ORPHA:85450 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Lumbar hyperlordosis, Renal insufficiency, Proteinuria, Contrac... |
ORPHA:2614 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosy... |
ORPHA:667 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Spina bifida occulta, Mitral valve prolapse |
ORPHA:230839 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Pneumothorax, Humeroradia... |
ORPHA:3404 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Weight loss, Multiple myeloma |
ORPHA:188 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Skeletal muscle atrophy, Dysuria, Babinski sign, Slurred speech, Upper limb muscl... |
ORPHA:101000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn... |
ORPHA:3253 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Abnormal curvature of the ver... |
ORPHA:168572 |
Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Speech apraxia, Incoordination, Elevated hepatic transaminase... |
ORPHA:297 |
Listeriosis |
|
Respiratory distress, Back pain, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory f... |
ORPHA:533 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Abnormal mitral valve morphology |
ORPHA:1969 |
Glioblastoma |
|
Glioblastoma multiforme, Paralysis |
ORPHA:360 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Pituita... |
ORPHA:97261 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ... |
ORPHA:3163 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Wei... |
ORPHA:100085 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss |
ORPHA:93958 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Cerebral palsy, Ketonuria, Hyperglycinuria, Opisthotonus, Orga... |
OMIM:210210 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Pro... |
OMIM:242900 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Trichorhinophalangeal Syndrome, Type I |
|
Scapular winging, Slow-growing hair, Hyperlordosis, Leukonychia, Fine hair, Scoliosis, Thin eyebr... |
OMIM:190350 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Perlman Syndrome |
|
Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the ab... |
OMIM:267000 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Abnormal location of the eyebrow,... |
ORPHA:522077 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Weight loss, Bradykinesia, P... |
ORPHA:411602 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyp... |
OMIM:253200 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal stenosis, Co... |
OMIM:616007 |
Otopalatodigital Syndrome, Type Ii |
|
Depressed nasal bridge, Elbow contracture, Kyphoscoliosis, Micrognathia, Short neck, Respiratory ... |
OMIM:304120 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Extrahepatic... |
ORPHA:97278 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the ... |
ORPHA:2554 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Mitral valve prolapse, Camptodactyly... |
ORPHA:2848 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Ataxia, Lymphoma, Weight loss, Enamel hypoplasia, Failur... |
OMIM:212750 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Renal ins... |
ORPHA:171 |
Pfapa Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:42642 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... |
OMIM:215150 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Ataxia, Moderate albuminuria, Abnormal heart morphology, Weight loss, Renal tubular dy... |
ORPHA:99885 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Elevated circulating aspart... |
OMIM:256810 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hepatocellular carcinoma, L... |
ORPHA:79240 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Hydronephr... |
ORPHA:568 |
Monosomy 22 |
|
Short neck, Schwannoma, Synophrys, Hepatosplenomegaly, Contractures of the large joints, Gonadal ... |
ORPHA:96123 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Oliguria, Weight loss |
ORPHA:514 |
Refsum Disease |
|
Skeletal muscle atrophy, Renal insufficiency, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal ... |
ORPHA:773 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower limb muscle weakness... |
ORPHA:845 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Spastic paraparesis, U... |
OMIM:619234 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Death in infancy, Recurrent pneumonia, Osteopetrosis, Death ... |
OMIM:612301 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Depressed nasal bridge, Lumbar hyperlordosis, Sagittal craniosynostosis... |
ORPHA:500150 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Shoulder girdle mu... |
ORPHA:206436 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Osteopetrosis |
OMIM:612840 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, S... |
ORPHA:904 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Scoliosis |
ORPHA:391474 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Pituitary null cell adenoma, Pituitary corticotropic cell adeno... |
ORPHA:913 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss |
ORPHA:86884 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Paralysis, ... |
OMIM:203700 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy |
OMIM:162100 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Vocal cord... |
ORPHA:99956 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstru... |
OMIM:188400 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... |
ORPHA:99889 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Lumbar hyperlordosis, Sacral dimple, Hypospadias, S... |
OMIM:305450 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100080 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic scars, Scoliosis |
OMIM:617821 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Scoliosis |
ORPHA:813 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Absent eyebrow, Abnormal dental enamel morphology, Kyphoscoliosis, Trich... |
OMIM:601701 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... |
ORPHA:99880 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Progres... |
OMIM:200150 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respiratory failur... |
ORPHA:79404 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis, Enuresis nocturna, Galactosuria, Scoliosis,... |
ORPHA:251061 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Sparse eyebrow, Hypoplasia... |
OMIM:250250 |
Schinzel-Giedion Syndrome |
|
Short neck, Vocal cord paralysis, Renal cyst, Hypertonia, Hepatoblastoma, Myeloid leukemia, Micro... |
ORPHA:798 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, P... |
ORPHA:97282 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:300614 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Extrahepatic... |
ORPHA:97283 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... |
ORPHA:93352 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Respiratory failure |
ORPHA:158687 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocortical carcinoma, Increased body weight, Weight loss, A... |
ORPHA:1501 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy, Hyp... |
ORPHA:330001 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria, Ataxia, Weight loss |
ORPHA:79242 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Scapular winging, Block vertebrae, Short neck, Hyperlordosis, ... |
OMIM:272460 |
Martsolf Syndrome 1 |
|
Inguinal hernia, Lumbar hyperlordosis, Thoracic scoliosis, Clonus, Low anterior hairline, Spastic... |
OMIM:212720 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Lumbar hyperlordosis, Renal insufficiency, Proteinuria, Glomerulonephr... |
OMIM:161200 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Cachexia, Supernumerary nipple, Fine hair, Sparse or abse... |
ORPHA:217346 |
Whipple Disease |
|
Hepatomegaly, Pericarditis, Myositis, Ataxia, Cachexia, Myocarditis, Abnormal pyramidal sign, Myo... |
ORPHA:3452 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia |
OMIM:168605 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Abnormal tr... |
ORPHA:192 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
L1 Syndrome |
|
Skeletal muscle atrophy, Spasticity, Hemiplegia/hemiparesis |
ORPHA:275543 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... |
ORPHA:174 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture |
OMIM:620327 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... |
ORPHA:276152 |
Pyomyositis |
|
Renal insufficiency, Myositis, Testicular teratoma, Weight loss |
ORPHA:764 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Nephrolithiasis, Weight loss |
OMIM:617321 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Opisthotonus, Weight loss |
ORPHA:216866 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia, Short neck |
ORPHA:884 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Nephropathy... |
ORPHA:662 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Micropenis, ... |
OMIM:619503 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Gonadoblastoma |
ORPHA:168563 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight |
OMIM:615222 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Cachexia, Hematological neoplasm, Hepatosplenomegaly, Hemangioma |
ORPHA:824 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100082 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Depressed nasal rid... |
ORPHA:731 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Periodic paralysis |
ORPHA:757 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Weight loss |
OMIM:209950 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Cachexia, Congenital diaphragmat... |
ORPHA:3380 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Acute leukemia, Weight... |
ORPHA:729 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Joint contracture, Lumbar hyperlordosis |
OMIM:602471 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
Fumarase Deficiency |
|
Mitochondrial swelling, Decreased fumarate hydratase activity |
OMIM:606812 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Progressive gait... |
ORPHA:191 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Ca... |
ORPHA:79430 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2556 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build |
OMIM:603041 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:507 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Polyarteritis Nodosa |
|
Cardiomyopathy, Pericarditis, Weight loss |
ORPHA:767 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Hypospadias, Ragge... |
OMIM:252010 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Ataxia, Kyphosis, Chronic myelogenous leukemia, Multiple lip... |
ORPHA:636 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... |
ORPHA:1358 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... |
ORPHA:2839 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Sparse facial hair,... |
ORPHA:2232 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Familial Glucocorticoid Deficiency |
|
Renal salt wasting, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Hypernatriuria, Leyd... |
ORPHA:361 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Irregular v... |
OMIM:226980 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Spasticity |
ORPHA:220295 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression f... |
OMIM:602557 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Nail dystrophy, Sparse hair, Failure to thrive |
OMIM:615934 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Pulmonary carcinoid tumor, Weight loss, H... |
ORPHA:97287 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Weight loss |
ORPHA:97286 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Myelodysplasia, Weight loss |
ORPHA:71493 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Ataxia, Spastic hemiparesis, Jaundice, Di... |
ORPHA:20 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Camptodactyly of finger, Kyphosco... |
OMIM:143095 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Hepatomegaly, Self-mutilation ... |
ORPHA:2388 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Lymphoma, Weight loss |
ORPHA:398063 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Ataxia, Alopecia, Weight loss, Hematuria, Hepatic failure, Dou... |
ORPHA:397 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Renal cyst,... |
ORPHA:744 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Hydroureter, Hypospadias, Renal insufficiency, Myelodysplasi... |
ORPHA:84 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss |
ORPHA:324964 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski s... |
OMIM:146500 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Dysuria, Paralysis, Urinary retention, Respiratory paralysis, Hepatocellula... |
OMIM:176000 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Fatal Familial Insomnia |
|
Urinary retention, Ataxia, Myoclonus, Weight loss |
OMIM:600072 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic paralysis, Scoliosis, Enamel hypoplasia, Periodic hypokalemic paresis |
OMIM:170390 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, Lumbar hyperlordosis, Ventricular septal defect, Short neck, Fine hair, Hy... |
ORPHA:251028 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
Fraser Syndrome 2 |
|
Wide nose, Respiratory failure, Short neck, Underdeveloped nasal alae |
OMIM:617666 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Short neck |
ORPHA:1438 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Skeletal muscle atrophy, Renal insufficiency, Failure to thrive in infancy, Hyperph... |
OMIM:219800 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Extrahepatic... |
ORPHA:97280 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Weight loss, Intermittent jaundice, Neoplasm of... |
ORPHA:100086 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Dilated cardiomyopathy, Renal hypoplasia, Re... |
ORPHA:37553 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability, Myopathy, Atr... |
OMIM:614557 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Thick eyebrow, Ventricular septal defect, Diastasis ... |
ORPHA:488632 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Ataxia, Unilateral renal agenesis, Hyperlordosis, Hypertrichosis, Low posterior hairline, Umbilic... |
ORPHA:221139 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Cachexia, Paralysis, Aortic valve calcification, Oculomotor apraxia, ... |
ORPHA:2072 |
Foodborne Botulism |
|
Cerebral palsy, Urinary retention, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Proteinuria, Abnormality of body weight, Lymphoma, Increased body weight, Hodgkin lymph... |
ORPHA:2298 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Babinski sign, Vocal cor... |
ORPHA:268882 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Renal insufficiency, Neurog... |
ORPHA:90324 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Congenital kyphoscoliosis, Bicuspid aortic valve, Dextr... |
ORPHA:536545 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Myocarditis, Hepatitis... |
ORPHA:139402 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
Igg4-Related Aortitis |
|
Low back pain, Hydronephrosis, Weight loss |
ORPHA:449400 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... |
ORPHA:457359 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Umbil... |
OMIM:619636 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contractu... |
ORPHA:2671 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Weight loss |
ORPHA:411703 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Myopathy, Patchy alopecia, Progressive l... |
ORPHA:90289 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... |
ORPHA:100075 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hamartomatous polyposis, Alopecia, Nail dystrophy, Cachexia |
OMIM:175500 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss, Hepatosplenomegaly, Enthesitis, Abnormality of the cervical spine |
ORPHA:85408 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Hepatomegaly, Spastic tetraparesis, Pericardial effusion, Hepatitis, Tetra... |
OMIM:615846 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Cellulitis, Retinobl... |
ORPHA:790 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur... |
OMIM:255995 |
Primary Intestinal Lymphangiectasia |
|
Disseminated cutaneous warts, Pericardial effusion, Weight loss |
ORPHA:90362 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Fi... |
OMIM:234100 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Weight loss, Extrapyramidal dyskinesia, Spasticity |
ORPHA:134 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hepatomegaly, Lipodyst... |
OMIM:256040 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:90045 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Jaundice... |
ORPHA:131 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis |
OMIM:259730 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Myopat... |
OMIM:619743 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Periodic... |
OMIM:276700 |
Abetalipoproteinemia |
|
Osteopenia, Respiratory failure, Kyphoscoliosis |
ORPHA:14 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Helsmoortel-Van Der Aa Syndrome |
|
Facial palsy, Hyperlordosis, Obesity, Abnormal heart morphology, Mitral valve prolapse, Truncal o... |
OMIM:615873 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Synophrys, Obesity, Hypertonia, Hirsutism |
OMIM:616078 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia |
ORPHA:52503 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Elbow flexion contracture, Spinal canal stenosis... |
OMIM:608328 |
Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory failure, ... |
ORPHA:646 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Long penis, Hypercalc... |
ORPHA:508 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Spastic diplegia, Irregular... |
OMIM:607944 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Abnormal heart morphology, Hamartomatous polyposis, Hemangioblastoma, Atrial septal def... |
ORPHA:79076 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Increased density of long bones, Anteve... |
OMIM:269150 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis |
ORPHA:3130 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hyperlordosis, Synophrys, Obesity, Hepatosplenomegaly, Cholecystitis, Umbilical her... |
OMIM:301066 |
Juvenile Dermatomyositis |
|
Calcinosis, Pericarditis, Myositis, Alopecia, Weight loss, Cardiomyopathy |
ORPHA:93672 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Kyphosis, Hemiplegia/hemipa... |
ORPHA:828 |
Rat-Bite Fever |
|
Back pain, Pericarditis, Myocarditis, Endocarditis, Weight loss, Tendonitis |
ORPHA:31205 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Mitral valve calcification, Cachexia, Kyphosis, Mitral ... |
ORPHA:558 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Cholestasis, Weight loss |
ORPHA:95427 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Patchy hypopigmentation of hair, Short neck, Ectopic kidney, Spina bifid... |
ORPHA:233 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Weight loss |
ORPHA:90060 |
Saethre-Chotzen Syndrome |
|
Abnormal hair pattern, Hyperlordosis, Low anterior hairline, Abnormal form of the vertebral bodie... |
ORPHA:794 |
Rift Valley Fever |
|
Back pain, Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesi... |
ORPHA:319251 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Hypoplasia of pen... |
ORPHA:899 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Paralysis |
OMIM:242100 |
Desbuquois Dysplasia 2 |
|
Lumbar hyperlordosis, Short neck, Synophrys, Truncal obesity, Platyspondyly |
OMIM:615777 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Cholangitis, Myelodysplasia, Dilated card... |
ORPHA:3260 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Immunodeficiency 31C |
|
Hepatomegaly, Skeletal muscle atrophy, Weight loss |
OMIM:614162 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss |
ORPHA:103918 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Brain neoplasm, Non-medullary thyroid carcinoma, Foot dorsiflexor weakne... |
ORPHA:273 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Weight loss, Unilateral r... |
ORPHA:49041 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Oroticaciduria, Stage 5 chronic kidney disease, Fine hair,... |
OMIM:222700 |
Wolman Disease |
|
Hepatomegaly, Hepatic failure, Cachexia |
ORPHA:75233 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis |
OMIM:267200 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Microsporidiosis |
|
Myositis, Cholangitis, Cachexia, Myocarditis, Urethritis, Biliary tract abnormality, Hepatitis, E... |
ORPHA:2552 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow, Gait ataxia, Scoliosis |
OMIM:617011 |
Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Vocal cord paralysis, Low anterior hairline, Premature gra... |
OMIM:619488 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Micrognathia, Pulmonary arterial hypertension,... |
ORPHA:2785 |
Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... |
ORPHA:63259 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Weight loss, Const... |
ORPHA:67 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Weight loss, Small i... |
ORPHA:100078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypospadias, Flexion contracture, Poor coordi... |
OMIM:309590 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Inhalational Botulism |
|
Urinary retention, Paralysis |
ORPHA:254504 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Myositis, Alopecia, Failure to thrive in infancy, Cachexia, Hepati... |
ORPHA:37042 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Patent urachus |
OMIM:618252 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpediculate narrownes... |
OMIM:602875 |
Turnpenny-Fry Syndrome |
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Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Sparse scalp hair, ... |
OMIM:618371 |
Parkinson Disease 4, Autosomal Dominant |
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Parkinsonism, Weight loss |
OMIM:605543 |
Lysosomal Acid Lipase Deficiency |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Micr... |
ORPHA:275761 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Long nose, Cleft of chin, Radioulnar synostosis, Lambdoidal craniosyno... |
OMIM:101400 |
Late-Onset Isolated Acth Deficiency |
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Pituitary adenoma, Failure to thrive, Hepatitis, Weight loss |
ORPHA:199299 |
Recon Progeroid Syndrome |
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Skeletal muscle atrophy, Hirsutism, Absent lower eyelashes |
OMIM:620370 |
Behçet Disease |
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Pericarditis, Myositis, Ataxia, Renal insufficiency, Abnormal pyramidal sign, Endocarditis, Weigh... |
ORPHA:117 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Elevated hepatic transaminase, Liver abscess, Weight loss |
ORPHA:54251 |
Igg4-Related Kidney Disease |
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Lymphocytoma cutis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter ... |
ORPHA:449395 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Recurrent fractures, Abnormal dental pulp morphology |
ORPHA:416 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Paralysis |
ORPHA:83601 |
Klatskin Tumor |
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Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Eosinophilic Gastroenteritis |
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Weight loss |
ORPHA:2070 |
Weill-Marchesani Syndrome 1 |
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Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... |
OMIM:277600 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
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Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia |
OMIM:600273 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatomegaly, Hypospadias, Hepatosplenomegaly, Micropenis, Weight loss, Hypertrophic cardiomyopathy |
OMIM:613673 |
Hyperoxaluria, Primary, Type I |
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Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Premature gra... |
OMIM:194050 |
Stevens-Johnson Syndrome |
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Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Pelvis-Shoulder Dysplasia |
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Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Spastic tetraparesis, Widow's peak,... |
OMIM:616975 |
Moebius Syndrome |
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Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Breast aplasia, Ar... |
ORPHA:570 |
Langer Mesomelic Dysplasia |
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Lumbar hyperlordosis |
OMIM:249700 |
Brucellosis |
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Hepatomegaly, Pericarditis, Liver abscess, Small for gestational age, Glomerulonephritis, Myocard... |
ORPHA:1304 |
Toxic Epidermal Necrolysis |
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Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Fryns-Smeets-Thiry Syndrome |
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Scoliosis, Cachexia |
ORPHA:2058 |
Acute Promyelocytic Leukemia |
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Hematuria, Weight loss |
ORPHA:520 |
Addison Disease |
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Sparse axillary hair, Decreased urinary potassium, Renal salt wasting, Thymoma, Weight loss, Fail... |
ORPHA:85138 |
Ménétrier Disease |
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Weight loss |
ORPHA:2494 |
Acrodermatitis Enteropathica |
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Abnormal eyebrow morphology, Alopecia, Failure to thrive, Weight loss |
ORPHA:37 |
Acquired Central Diabetes Insipidus |
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Pollakisuria, Weight loss |
ORPHA:95626 |
African Trypanosomiasis |
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Hepatomegaly, Pericarditis, Abnormal central motor function, Renal insufficiency, Involuntary mov... |
ORPHA:3385 |
Seckel Syndrome |
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Sparse scalp hair, Scoliosis, Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
Castleman Disease |
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Renal insufficiency, Jaundice, Weight loss, Hematuria, Restrictive cardiomyopathy, Ureteral obstr... |
ORPHA:160 |
Branchiooculofacial Syndrome |
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Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Elbow flexi... |
OMIM:113620 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Kenny-Caffey Syndrome, Type 2 |
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Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Imerslund-Gräsbeck Syndrome |
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Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Hyperkalemic Periodic Paralysis |
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Periodic hyperkalemic paralysis |
OMIM:170500 |
Achondroplasia |
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Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Pseudohypoaldosteronism, Type Iia |
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Periodic hyperkalemic paralysis |
OMIM:145260 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Scapular winging, Hypophosphaturia, Hyperlordosis, Abnormality of hair texture, Synophrys, Hypopl... |
ORPHA:73223 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Pineoblastoma |
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Retinoblastoma, Pinealoma, Paralysis |
ORPHA:251909 |
Hutchinson-Gilford Progeria Syndrome |
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Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Mitral stenosis, Abnormal mi... |
ORPHA:740 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Holoprosencephaly 2 |
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Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Absent nasal septal cartilage, S... |
OMIM:157170 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:250420 |
Reactive Arthritis |
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Pericarditis, Weight loss, Dystrophic fingernails, Enthesitis |
ORPHA:29207 |
Acute Adrenal Insufficiency |
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Renal insufficiency, Sparse axillary hair, Decreased urinary potassium, Renal salt wasting, Weigh... |
ORPHA:95409 |
Malt Lymphoma |
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B-cell lymphoma, Weight loss |
ORPHA:52417 |
Chronic Graft Versus Host Disease |
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Elevated hepatic transaminase, Fasciitis, Alopecia, Phimosis, Urinary bladder inflammation, Flexi... |
ORPHA:99921 |
Sarcoidosis |
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Hepatomegaly, Renal insufficiency, Alopecia, Facial palsy, Scarring, Portal hypertension, Nephrol... |
ORPHA:797 |
Multiple Myeloma |
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Weight loss, Nephrotic syndrome, Nephropathy, Vertebral compression fracture, Acute kidney injury |
ORPHA:29073 |
Granulomatosis With Polyangiitis |
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Renal insufficiency, Pericarditis, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Hemipl... |
ORPHA:900 |
Tsh-Secreting Pituitary Adenoma |
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Abnormal hair quantity, Pericardial effusion, Tremor, Weight loss, Periodic hypokalemic paresis |
ORPHA:91347 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Renal Nutcracker Syndrome |
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Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Primary Fanconi Renotubular Syndrome |
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Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Familial Gestational Hyperthyroidism |
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Hand tremor, Weight loss |
ORPHA:99819 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Sparse scalp hair, Ataxia, Absent facial hair, Kyphosis... |
OMIM:259050 |
Postinfectious Vasculitis |
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Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weigh... |
ORPHA:48435 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Hemiplegia, Cachexia |
ORPHA:3217 |
Pontocerebellar Hypoplasia Type 7 |
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Skeletal muscle atrophy, Involuntary movements, Micropenis, Hypertonia, Myoclonus, Fasciculations... |
ORPHA:284339 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Weight loss |
ORPHA:747 |
Acrocapitofemoral Dysplasia |
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Short nail, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Myositis, Abnormality of the extraocular muscles, Weight loss |
ORPHA:79078 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Frontal balding, Renal salt wasting, Long penis, Hirsutism, Testicular adrenal rest tumor, Weight... |
ORPHA:90794 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Myocarditis, Weight loss |
ORPHA:50918 |
Sponastrime Dysplasia |
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Lumbar hyperlordosis, Small for gestational age, Hypospadias, Kyphoscoliosis, Hyperconvex vertebr... |
ORPHA:93357 |
Granulomatosis With Polyangiitis |
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Weight loss |
OMIM:608710 |
Hyper-Igd Syndrome |
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Renal angiomyolipoma, Elevated urine mevalonic acid level, Hepatosplenomegaly |
OMIM:260920 |
Leprosy |
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Skeletal muscle atrophy, Alopecia, Absent eyebrow, Loss of eyelashes, Abnormality of the liver, S... |
ORPHA:548 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Sterile pyuria, Weight loss, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Ami... |
ORPHA:91500 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
Norrie Disease |
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Clonus, Cachexia, Hypertonia, Scoliosis, Neoplasm of the eye, Failure to thrive, Vascular neoplasm |
ORPHA:649 |
Pancreatoblastoma |
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Jaundice, Weight loss |
ORPHA:677 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Hepatomegaly, Hypercalciuria, Weight loss |
OMIM:181000 |
Immunodeficiency 82 With Systemic Inflammation |
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Hepatitis, B-cell lymphoma, Cholesteatoma, Weight loss |
OMIM:619381 |
Pierson Syndrome |
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Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... |
OMIM:609049 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Weight loss |
ORPHA:309031 |
Microphthalmia, Syndromic 1 |
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Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Kyphoscoliosis, Hydroureter, Spastic di... |
OMIM:309800 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Weight loss |
OMIM:301074 |
Goodpasture Syndrome |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |