Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... |
OMIM:208100 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Acetyl-Coa Carboxylase Deficiency |
|
Growth delay, Myopathy |
OMIM:613933 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Short stature |
ORPHA:366 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Proxima... |
ORPHA:598 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies, Intrauterine growth retardation |
OMIM:618246 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly |
OMIM:610140 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... |
OMIM:300580 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Proportionate short stature |
ORPHA:50817 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Neonatal death, Intrauterine growth retardation, Failure to thrive |
OMIM:618237 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Myofibrillar myopathy, Nemaline bodies |
OMIM:615348 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Slender build, Myopathy |
ORPHA:352470 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Death in infancy, Cachexia, Flexion contracture, Myopathy |
ORPHA:157973 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... |
OMIM:609284 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Short stature, Abnormality of radial epiphyses, Coxa v... |
ORPHA:166002 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Short stature |
ORPHA:408 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... |
ORPHA:399086 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Central Core Disease |
|
Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel... |
ORPHA:597 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Growth delay, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
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 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Failure to thrive |
ORPHA:91130 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Short stature, Myopathy |
ORPHA:2349 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... |
OMIM:602771 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Hypophosphatasia, Childhood |
|
Myopathy, Short stature, Bowing of the legs |
OMIM:241510 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Short stature |
OMIM:610717 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... |
OMIM:256030 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Delayed puberty |
ORPHA:2598 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... |
OMIM:620265 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Failure to thrive, Intrauterine growth retardation |
ORPHA:26792 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... |
OMIM:301830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal mus... |
OMIM:608840 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Short stature, Centrally nucleated skeletal muscle fib... |
OMIM:248800 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Congenital Myopathy 9A |
|
Death in infancy, EMG: myopathic abnormalities, Short stature, Obesity |
OMIM:618822 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, G... |
ORPHA:57 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Failure to thrive |
OMIM:618234 |
Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy, Short stature |
OMIM:232400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Weaknes... |
ORPHA:254875 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, Death in... |
OMIM:609560 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeleta... |
OMIM:255160 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Coxa valga, Avascular necrosis of the capital femo... |
ORPHA:559 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... |
OMIM:619334 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro... |
OMIM:612954 |
Congenital Myopathy 16 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture |
OMIM:618524 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co... |
OMIM:161800 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne... |
ORPHA:178148 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:2141 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Short stature, Myopathy |
OMIM:616549 |
Adrenomyodystrophy |
|
Myopathy, Failure to thrive, Short stature |
ORPHA:977 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia |
ORPHA:438134 |
Immunodeficiency 9 |
|
Myopathy, Failure to thrive, Death in infancy |
OMIM:612782 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ... |
OMIM:619040 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:171719 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Short stature, Myopathy |
ORPHA:85329 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Musc... |
OMIM:619542 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Death in infancy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Knee flexion contract... |
ORPHA:3208 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:615524 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614100 |
Pseudoachondroplasia |
|
Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Irregular carpal bones... |
ORPHA:750 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Flexion contracture, Skeleta... |
ORPHA:682 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Short stature, Proximal placement of thumb, Absent thumb, Short th... |
OMIM:613390 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy |
ORPHA:352447 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Short stature |
ORPHA:2238 |
Spinocerebellar Ataxia With Epilepsy |
|
Myopathy |
ORPHA:254881 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Sengers Syndrome |
|
Growth delay, Myopathy |
OMIM:212350 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... |
OMIM:112250 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy, Cachexia |
ORPHA:42 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
Chylomicron Retention Disease |
|
Growth delay, Myopathy, EMG: myopathic abnormalities, Failure to thrive |
ORPHA:71 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... |
OMIM:601163 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Failure to thrive, Reduced muscle carnitine level |
OMIM:212140 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities, Overlapping toe, Short stature |
ORPHA:457365 |
Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Weakness of facial musculature, Failure to thrive, Flexion contracture, Myopathy |
OMIM:201470 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Failure... |
ORPHA:367 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Uln... |
ORPHA:1358 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter, Death in infancy |
OMIM:604377 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Failure to thrive, Rhabdomyolysis, Small for gestational age |
OMIM:609015 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Schisis Association |
|
Small for gestational age, Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
Cystinosis |
|
Myopathy, Failure to thrive, Short stature, Delayed puberty |
ORPHA:213 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
15Q24 Microdeletion Syndrome |
|
Short stature, Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic h... |
ORPHA:94065 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:713 |
13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Intrauterine growth retar... |
ORPHA:412035 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Arachnodactyly, Congenital diaphragmatic hernia, Failure to thrive, Decreased body... |
ORPHA:370079 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Sandal gap, Congenital diaphragmatic hernia |
OMIM:300887 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Short stature, Cachexia, Elbow flexion contracture, Small hand, ... |
ORPHA:371364 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variabilit... |
ORPHA:52430 |
Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ... |
ORPHA:98915 |
Sanjad-Sakati Syndrome |
|
Short stature, Postnatal growth retardation, Small hand, Short foot, Myopathy, Severe intrauterin... |
ORPHA:2323 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Short stature, Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lip... |
ORPHA:98907 |
Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb |
ORPHA:36 |
Neutral Lipid Storage Myopathy |
|
Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl... |
ORPHA:98908 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Intrauterine growth retardation, EMG: myopathic abnormalities |
OMIM:620326 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities, Failure to thrive |
ORPHA:99901 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con... |
OMIM:254940 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Congenital diaphragmatic hernia |
ORPHA:1166 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Growth delay, Calf muscle hypertrophy, Myopathy, Finger clinodactyly |
ORPHA:261476 |
Congenital Myopathy 17 |
|
Overlapping fingers, Overlapping toe, Failure to thrive in infancy, Tapered finger, Myopathy, Dis... |
OMIM:618975 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly, T... |
ORPHA:284180 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Death in infancy, Death in adolescence, Myopathy, Failure to thrive |
OMIM:615512 |
Boomerang Dysplasia |
|
Neonatal death, Severe short stature, Absent radius, Fibular aplasia |
OMIM:112310 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Short stature, Type 2 muscle fiber predominance, Myopathy, Talipes equin... |
OMIM:619743 |
Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Tonne-Kalscheuer Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Growth delay, Broad thumb, Brachydactyly |
OMIM:300978 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Intrauterine growth retardation |
OMIM:617713 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
Glycogen Storage Disease Xii |
|
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... |
OMIM:611881 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis |
ORPHA:228305 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... |
ORPHA:263297 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
Stormorken Syndrome |
|
Myopathy, Short stature |
OMIM:185070 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... |
ORPHA:254892 |
Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Death in infancy, Bowing of the long bones, Shoulder fl... |
ORPHA:800 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Equinus calcaneus, Rhabdomyolysis, Skeletal myopathy, Left ventricu... |
ORPHA:746 |
Cooper-Jabs Syndrome |
|
Proximal placement of thumb, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
1Q41Q42 Microdeletion Syndrome |
|
Growth delay, Short stature, Talipes equinovarus, Congenital diaphragmatic hernia |
ORPHA:250999 |
Barth Syndrome |
|
Growth delay, Skeletal myopathy, Failure to thrive, Talipes equinovarus |
OMIM:302060 |
Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis |
OMIM:300842 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Triphalangeal thumb, E... |
ORPHA:2549 |
Non-Syndromic Posterior Hypospadias |
|
Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:95706 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Stromme Syndrome |
|
Myopathy, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
Scleromyxedema |
|
Myopathy, Abnormal skeletal muscle morphology |
ORPHA:167635 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Increased variability in muscle fiber diameter, Increased muscle glycogen content,... |
ORPHA:502423 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Metaphyseal widening, Flexion contracture, Congenital diaphragmatic hernia, Ulnar deviation of th... |
OMIM:263210 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Acroosteolysis of distal phalanges (feet), Proximal upper limb muscle hypertrophy, Osteolytic def... |
ORPHA:280365 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Talipes equinovarus, Death in childhood, In... |
OMIM:618651 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Myopathy, Broad thumb |
ORPHA:109 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Growth delay, Myopathy, Intrauterine growth... |
ORPHA:506 |
Glycerol Kinase Deficiency |
|
Short stature, Small for gestational age, Growth delay, Myopathy, Muscular dystrophy |
OMIM:307030 |
Serkal Syndrome |
|
Growth delay, Congenital diaphragmatic hernia |
ORPHA:139466 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Seckel Syndrome 9 |
|
Small for gestational age, Short stature, Congenital diaphragmatic hernia, Talipes equinovarus, I... |
OMIM:616777 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Short stature, Rocker bottom foot, Congenital diaphragmatic hernia, Achilles t... |
ORPHA:363528 |
Zaki Syndrome |
|
Toe syndactyly, Short stature, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad... |
OMIM:619648 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Tapered finger, Myopathy, Arthrogryposis multiplex congenita, Slender finger |
ORPHA:2953 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Proximal placement of thumb, Congenital diaphragmatic hernia... |
ORPHA:251071 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy |
ORPHA:90289 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Congenital diaphragmatic hern... |
ORPHA:1001 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy, Weight loss |
ORPHA:85450 |
Melas |
|
Short stature, Ragged-red muscle fibers, Myopathy, Failure to thrive, Abnormal mitochondria in mu... |
ORPHA:550 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Failure to thrive in infancy, Proximal femoral epiphysiolysis |
OMIM:162300 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Short stature, Congenital diaphragmatic hernia |
OMIM:606164 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... |
OMIM:618733 |
Danon Disease |
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Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Short stature, Camptodactyly, Clinod... |
OMIM:617602 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Joint contracture, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia |
OMIM:615919 |
Fetal Alcohol Syndrome |
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Intrauterine growth retardation, Short stature, Congenital diaphragmatic hernia |
ORPHA:1915 |
Oculopharyngodistal Myopathy 1 |
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Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... |
OMIM:164310 |
Matthew-Wood Syndrome |
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Intrauterine growth retardation, Failure to thrive, Congenital diaphragmatic hernia |
ORPHA:2470 |
Autosomal Recessive Spondylocostal Dysostosis |
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Finger syndactyly, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Intra... |
ORPHA:2311 |
Idiopathic Camptocormia |
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Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
Emanuel Syndrome |
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Torticollis, Congenital diaphragmatic hernia, Intrauterine growth retardation, Joint contracture,... |
OMIM:609029 |
Genitopalatocardiac Syndrome |
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Intrauterine growth retardation, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Bra... |
ORPHA:2075 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia |
ORPHA:2063 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasi... |
ORPHA:958 |
Usher Syndrome |
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Myopathy |
ORPHA:886 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Myopathy, Rhabdomyolysis |
ORPHA:157 |
Craniorachischisis |
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Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Talipes equinovarus, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Myopathy |
OMIM:115197 |
Acquired Generalized Lipodystrophy |
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Myopathy, Calf muscle pseudohypertrophy |
ORPHA:79086 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Short stature, Sandal gap, Congenital diaphragmatic hernia, 3-4 finger cutaneous syndactyly, Tali... |
OMIM:612530 |
Mosaic Trisomy 1 |
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Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1692 |
Vici Syndrome |
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Left ventricular hypertrophy, Myopathy, Failure to thrive, Postnatal growth retardation |
OMIM:242840 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Growth delay, Myopathy, Clinodactyly, Failure to thrive, Broad thumb |
OMIM:612541 |
Malignant Hyperthermia Of Anesthesia |
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Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... |
ORPHA:423 |
Proximal 16P11.2 Microdeletion Syndrome |
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Failure to thrive, Hand polydactyly, Obesity, Congenital diaphragmatic hernia |
ORPHA:261197 |
Abetalipoproteinemia |
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Myopathy, Failure to thrive, Distal lower limb muscle weakness, Talipes equinovarus |
ORPHA:14 |
Congenital Myasthenic Syndrome |
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Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:98914 |
Alpha-Mannosidosis, Infantile Form |
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Facial hypotonia, Genu valgum, Macroglossia, Myopathy, Cortical thickening of long bone diaphyses... |
ORPHA:309282 |
White-Sutton Syndrome |
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Short stature, Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Intrauterine growth re... |
OMIM:616364 |
Multiple Pterygium Syndrome, Escobar Variant |
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Syndactyly, Multiple joint contractures, Arachnodactyly, Rocker bottom foot, Congenital diaphragm... |
OMIM:265000 |
Oculocerebrocutaneous Syndrome |
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Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1647 |
Diamond-Blackfan Anemia 10 |
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Growth delay, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Emanuel Syndrome |
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Multiple joint contractures, Congenital diaphragmatic hernia, Growth delay, Intrauterine growth r... |
ORPHA:96170 |
Microphthalmia, Syndromic 9 |
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Severe short stature, Short stature, Congenital diaphragmatic hernia, Neonatal death, Diaphragmat... |
OMIM:601186 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Congenital diaphragmatic hernia, Broad d... |
OMIM:245600 |
Ferguson-Bonni Neurodevelopmental Syndrome |
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Congenital diaphragmatic hernia |
OMIM:619699 |
Trisomy 1Q |
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Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Short stature, Failure to thrive in infancy, Metaphyseal widening, Genu ... |
OMIM:219800 |
Lowry-Maclean Syndrome |
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Growth delay, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2409 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Skeletal muscle atrophy, Arachnodactyly, Short stature, Myopathy, Talipes equinovarus |
ORPHA:536545 |
Pericardial And Diaphragmatic Defect |
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Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Axial Mesodermal Dysplasia Spectrum |
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Short stature, Congenital diaphragmatic hernia |
ORPHA:1834 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Talip... |
ORPHA:1900 |
Denys-Drash Syndrome |
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Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia |
OMIM:194080 |
Wolfram Syndrome |
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Myopathy, Delayed puberty |
ORPHA:3463 |
Microform Holoprosencephaly |
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Intrauterine growth retardation, EMG: myopathic abnormalities, Short stature |
ORPHA:280200 |
Vacterl/Vater Association |
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Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplasia/Hypoplasia... |
ORPHA:887 |
Chromosome 15Q25 Deletion Syndrome |
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Short stature, Congenital diaphragmatic hernia, Long fingers, Growth delay, Intrauterine growth r... |
OMIM:614294 |
Distal Deletion 15Q |
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Short stature, Small for gestational age, Congenital diaphragmatic hernia, Postnatal growth retar... |
ORPHA:1596 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Elbow flexio... |
OMIM:200980 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Macroglossia, Myopathy |
OMIM:261740 |
Donnai-Barrow Syndrome |
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Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
1P36 Deletion Syndrome |
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Short stature, Camptodactyly of finger, Obesity, Short foot, Myopathy, Foot polydactyly, Clinodac... |
ORPHA:1606 |
Craniofrontonasal Syndrome |
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Toe syndactyly, Broad hallux, Short stature, Congenital diaphragmatic hernia, Clinodactyly of the... |
OMIM:304110 |
Trisomy 18 |
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Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Postaxial hand... |
ORPHA:3380 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Flexion contracture, Short stature, Myopathy |
ORPHA:3042 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Intrauterine growth retardation, Congenital diaphragmatic hernia |
OMIM:611812 |
Acrofacial Dysostosis 1, Nager Type |
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Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co... |
OMIM:154400 |
White-Sutton Syndrome |
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Short stature, Facial hypotonia, Obesity, Congenital diaphragmatic hernia |
ORPHA:468678 |
Pentalogy Of Cantrell |
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Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic... |
ORPHA:1335 |
Thakker-Donnai Syndrome |
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Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:1780 |
Aymé-Gripp Syndrome |
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Short stature, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Postnatal gro... |
ORPHA:1272 |
Hydrolethalus Syndrome 1 |
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Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Cornelia De Lange Syndrome 1 |
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Short stature, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Hypoplas... |
OMIM:122470 |
Oligomeganephronia |
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Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2260 |
Focal Dermal Hypoplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Diastasis recti, Congenital diaphragm... |
ORPHA:2092 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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EMG: myopathic abnormalities, Acute rhabdomyolysis |
ORPHA:480864 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Large for gestational age, Congenital diaphragmatic hernia, Short distal phalanx of finger |
OMIM:614080 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos... |
ORPHA:365 |
C Syndrome |
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Death in infancy, Toe syndactyly, Short stature, Failure to thrive in infancy, Congenital diaphra... |
ORPHA:1308 |
Choreoacanthocytosis |
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Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Muscle fiber atrophy |
ORPHA:2388 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Short stature, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Short foot, Clinoda... |
OMIM:618454 |
Arterial Tortuosity Syndrome |
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Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:208050 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Myopathy, Decreased muscle mass |
OMIM:234200 |
Caribbean Parkinsonism |
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EMG: myopathic abnormalities |
ORPHA:97355 |
Perlman Syndrome |
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Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Large for gestatio... |
OMIM:267000 |
Mullegama-Klein-Martinez Syndrome |
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Short stature, Facial palsy, Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5t... |
OMIM:301022 |
Williams Syndrome |
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Hallux valgus, Death in early adulthood, Short stature, Failure to thrive in infancy, Obesity, Ge... |
ORPHA:904 |
Fryns Syndrome |
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Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Short distal phalanx of finger |
ORPHA:2059 |
Simpson-Golabi-Behmel Syndrome |
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Death in infancy, Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, C... |
ORPHA:373 |
7Q11.23 Microduplication Syndrome |
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Short stature, Congenital diaphragmatic hernia, Long fingers, Obesity, Growth delay |
ORPHA:96121 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Short stature, Congenital diaphragmatic hernia, Proximal placement... |
ORPHA:818 |
Kabuki Syndrome |
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Short stature, Congenital diaphragmatic hernia, Small hand, Obesity, Short middle phalanx of fing... |
ORPHA:2322 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Preaxial polydactyly, Congenital diaphragmatic hernia, Micromelia |
OMIM:616546 |
Mycophenolate Mofetil Embryopathy |
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Foot polydactyly, Congenital diaphragmatic hernia, Short palm |
ORPHA:268249 |
Pagod Syndrome |
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Death in infancy, Short stature, Congenital diaphragmatic hernia |
ORPHA:991 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph... |
ORPHA:2911 |
Iniencephaly |
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Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh... |
OMIM:301044 |
Wolf-Hirschhorn Syndrome |
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Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Short thumb, Preaxial hand polydac... |
ORPHA:280 |
Holoprosencephaly |
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Hand polydactyly, Failure to thrive in infancy, Congenital diaphragmatic hernia, Brachydactyly |
ORPHA:2162 |
Dermatomyositis |
|
Inflammatory myopathy, Weight loss |
ORPHA:221 |
Proteus Syndrome |
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Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Cachexia, Metatarsus valgu... |
ORPHA:744 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:313850 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Short stature, Abnormal morphology of ulna, Congenital diaphragmatic hernia, Micr... |
ORPHA:199 |
Opitz Gbbb Syndrome |
|
Short stature, Congenital diaphragmatic hernia |
ORPHA:2745 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia |
OMIM:309801 |
Limb Body Wall Complex |
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Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi... |
ORPHA:2369 |
Focal Dermal Hypoplasia |
|
Short metacarpal, Toe syndactyly, Short stature, Diastasis recti, Congenital diaphragmatic hernia... |
OMIM:305600 |
Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia, Proximal placem... |
OMIM:613406 |
Diets-Jongmans Syndrome |
|
Short stature, Congenital diaphragmatic hernia |
OMIM:618846 |
Cardiospondylocarpofacial Syndrome |
|
Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Carpal synostosis,... |
OMIM:157800 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intrauterine growth retardation, Failure to thrive, Aplasia of the left hemidiaphragm, Congenital... |
OMIM:600001 |
Monosomy 9P |
|
Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni... |
ORPHA:261112 |
Coffin-Siris Syndrome 1 |
|
Sandal gap, Short stature, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ap... |
OMIM:135900 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Growth delay, Congenital diaphragmatic hernia |
OMIM:617641 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Small for gestational age, Congenital diaphra... |
ORPHA:2255 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Growth delay, Failure to thrive, Severe short stature, Congenital diaphragmatic hernia |
ORPHA:2556 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Large for gestational age, Ob... |
ORPHA:116 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614437 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies |
OMIM:615731 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad toe, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Postaxial polydact... |
OMIM:312870 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:273395 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Pallister-Killian Syndrome |
|
Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb shortening, Postaxial hand... |
OMIM:601803 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Congenital diaphragmatic hernia |
OMIM:618280 |