Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
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 |
Myopathy, Distal, Tateyama Type |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... |
OMIM:614321 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Diabetes mellitus |
OMIM:158500 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:600794 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:601472 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... |
OMIM:181400 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Type II diabet... |
OMIM:500002 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev... |
ORPHA:171706 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ... |
OMIM:620310 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness |
OMIM:614881 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness |
OMIM:617046 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Decreased body weight |
ORPHA:401805 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated... |
OMIM:615422 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating lactate dehydrogena... |
OMIM:620138 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o... |
OMIM:219080 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co... |
OMIM:618484 |
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 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Distal amyotrophy, Spinal muscular atrophy |
OMIM:300489 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... |
OMIM:612335 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle weakness |
OMIM:616280 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:618036 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Calf muscle hypertrophy, Distal amyotrophy |
OMIM:618135 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Upper limb muscle weakness, Hammertoe, Distal amyotrophy |
OMIM:182960 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Hammertoe, Distal amyotrophy |
OMIM:616625 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Claw toe deformity |
OMIM:616282 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy |
ORPHA:357043 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Claw hand deformity, Lower limb muscle weakness, Upper limb muscle weakness, Hammertoe, Lower lim... |
OMIM:618511 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Reduced beta-hexosaminidase activity, Proximal ... |
ORPHA:309169 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Centrally nucleated sk... |
OMIM:248800 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Insulin-resistant diabetes mellitus, Central core... |
ORPHA:401768 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Spinal muscular atrophy |
OMIM:271109 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... |
OMIM:619519 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Hammertoe, Spinal muscular atrophy |
OMIM:615048 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... |
OMIM:208100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low... |
OMIM:607641 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
Gemignani Syndrome |
|
Skeletal muscle atrophy, Abnormal testis morphology, Delayed puberty |
ORPHA:2074 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... |
ORPHA:314811 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy |
OMIM:182980 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep... |
OMIM:300559 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
OMIM:610250 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb amyotrophy |
OMIM:615658 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Ham... |
ORPHA:139536 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat... |
OMIM:619518 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Cryptorchidism, Type 1 musc... |
OMIM:619542 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615681 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:611105 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Talipes equinovarus, Delayed puberty |
OMIM:615683 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Increased variability in... |
OMIM:612937 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Hammertoe, Lower limb muscle weakness, Foo... |
OMIM:613287 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Hammertoe, Distal amyotrophy, Foot dorsiflexor weakness, Proximal amyotrophy |
OMIM:616040 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... |
OMIM:607088 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
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 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
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Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intrinsic hand muscles, Lowe... |
OMIM:615575 |
Spastic Paraplegia 63, Autosomal Recessive |
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Skeletal muscle atrophy |
OMIM:615686 |
Autosomal Dominant Centronuclear Myopathy |
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Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Dysequilibrium Syndrome |
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Skeletal muscle atrophy |
ORPHA:1766 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Myopathy, Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Nemaline Myopathy 5C, Autosomal Dominant |
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Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Amyotrophic Lateral Sclerosis 20 |
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Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Muscular ... |
OMIM:615426 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... |
OMIM:167320 |
Spinal Muscular Atrophy, Type Iii |
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Pelvic girdle amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Shoulder girdle muscle weak... |
OMIM:253400 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Congenital Myopathy 23 |
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Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Spastic Paraplegia 18B, Autosomal Recessive |
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Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
Myopathy, Myofibrillar, 8 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
Mitochondrial Myopathy, Infantile, Transient |
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Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
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Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Hammertoe, Foot dorsiflexor weak... |
OMIM:605726 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Zebra Body Myopathy |
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Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Myopathy, Distal, 1 |
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Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
Parkinson Disease 17 |
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Tremor, Resting tremor, Akinesia |
OMIM:614203 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Spinal Muscular Atrophy, Segmental |
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Hand muscle atrophy, Segmental spinal muscular atrophy |
OMIM:183020 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
Dpm3-Cdg |
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Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ... |
ORPHA:263494 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
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EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
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Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Myopathy, Distal, 3 |
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Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Pontocerebellar Hypoplasia, Type 1C |
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Skeletal muscle atrophy, Joint contracture, Failure to thrive, Spinal muscular atrophy |
OMIM:616081 |
Myopathy, Centronuclear, 5 |
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Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
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Elevated hepatic transaminase, Hammertoe, Distal amyotrophy, Ulnar claw, Foot dorsiflexor weakness |
OMIM:618400 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
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Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:302801 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Familial Hyperaldosteronism Type Iii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
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Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:607678 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
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Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
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Distal amyotrophy |
OMIM:158580 |
Finnish Upper Limb-Onset Distal Myopathy |
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Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... |
ORPHA:399086 |
Muscular Dystrophy, Congenital, Lmna-Related |
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Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... |
OMIM:613205 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Skeletal muscle atrophy, Failure to thrive, Type 1 muscle fiber predominance |
OMIM:618276 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... |
OMIM:256030 |
Merrf |
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Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Autosomal Recessive Spastic Paraplegia Type 76 |
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Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
Lethal Congenital Contracture Syndrome 5 |
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Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Oculopharyngodistal Myopathy 3 |
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Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
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Upper limb muscle weakness, Distal amyotrophy |
OMIM:607677 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Myopathy And Diabetes Mellitus |
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Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
Lipoid Congenital Adrenal Hyperplasia |
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Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Congenital Myopathy With Myasthenic-Like Onset |
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Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
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Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:607731 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy |
OMIM:605589 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Proximal amyotrophy |
OMIM:271200 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Elevated hepatic transaminase, Hypertriglyceridemia, Centrally nucleated skeletal muscle fibers, ... |
OMIM:613327 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
Scapuloperoneal Myopathy, X-Linked Dominant |
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Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Myopathy, Tubular Aggregate, 1 |
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Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Hammertoe, Ulnar claw,... |
OMIM:607684 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture |
OMIM:620323 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
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Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Myopathy, X-Linked, With Excessive Autophagy |
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Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Upper limb muscle weakness, Distal amyotrophy, Hand muscle weakness |
OMIM:608323 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating alanine a... |
OMIM:613752 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... |
OMIM:300580 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers |
ORPHA:480 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... |
OMIM:619574 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy |
OMIM:613402 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Flexion contracture, Talipes equinovarus |
OMIM:613162 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Insulin resistance, Hyperlipidemia, Myopathy, Abdomin... |
OMIM:615980 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Scapuloperoneal amyotrophy, Distal amyotrophy, Talipes equinovarus, Join... |
OMIM:611067 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... |
ORPHA:240094 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Oliver-Mcfarlane Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypogonadotropi... |
OMIM:275400 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscl... |
ORPHA:101077 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Ab... |
ORPHA:681 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy |
ORPHA:639 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... |
ORPHA:206559 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Distal amyotrophy |
OMIM:182815 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Generalized amyotrophy |
ORPHA:2589 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Delayed puberty, Decreased body weight |
ORPHA:477814 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Central Core Disease |
|
Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel... |
ORPHA:597 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal amyotrophy |
OMIM:253300 |
Cushing Disease |
|
Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperpla... |
ORPHA:96253 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Facial palsy, Hammertoe, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness |
OMIM:118210 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... |
ORPHA:90103 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy |
OMIM:618244 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Muscular dys... |
OMIM:616827 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Hand muscle weakness, Abnormality of the foot musculature, Split hand, Dista... |
ORPHA:100998 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus |
OMIM:613710 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:618251 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:607791 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia |
OMIM:618184 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Reduced muscle myoadenylate deaminase activity, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy |
OMIM:601287 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy, Hypogonadism, Rocker bottom foot |
ORPHA:85283 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Myopathy, Distal amyotrophy |
OMIM:232400 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... |
ORPHA:556037 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:605253 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Kennedy Disease |
|
Skeletal muscle atrophy, Testicular atrophy, Type II diabetes mellitus |
ORPHA:481 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:137200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... |
ORPHA:556030 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build... |
OMIM:254090 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Abnormal testis morpho... |
ORPHA:100 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... |
ORPHA:98856 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness |
OMIM:617207 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy, Join... |
OMIM:616516 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy |
ORPHA:868 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Diastasis recti, Small for gestational age, Polydactyly, Decreased body weight, Cli... |
ORPHA:231140 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... |
ORPHA:98855 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy |
ORPHA:247604 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... |
OMIM:617519 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, Generalized amyotrophy |
OMIM:618910 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture |
OMIM:616286 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Genu valgum, Distal amyotrophy, Talipes e... |
ORPHA:3115 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:607458 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus, Distal amyotrophy, Facial palsy |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Distal amyotrophy, Hammertoe, Foot dorsiflexor weakness, Thenar muscle atrophy |
OMIM:606483 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia |
ORPHA:454887 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy |
OMIM:205250 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Transient hyperlipidemia, H... |
ORPHA:156 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... |
OMIM:607454 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Talipes... |
ORPHA:496689 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Reduced beta-hexosaminidase activity, Failure to thrive, Limb joint cont... |
ORPHA:309162 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia |
ORPHA:157973 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal amyotrophy, Decreased phosphoribosylpyrophosphate synthetase level |
OMIM:311070 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Distal amyotrophy, Weakness of facial musculature, Failure to thrive, Foot d... |
OMIM:618811 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy |
OMIM:612577 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:620378 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, First dorsal intero... |
OMIM:270685 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated alkaline phosphatase of bone ori... |
OMIM:616828 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers |
OMIM:540000 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... |
OMIM:601462 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Reduced circulating aldolase concentratio... |
ORPHA:57 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b... |
OMIM:617336 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, Hammertoe, Limb mus... |
OMIM:118300 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Cryptorchidism, Camptodactyly, Arthrogryposis multip... |
OMIM:618393 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Elevated circulating alkaline... |
OMIM:606631 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy |
OMIM:619099 |
Siddiqi Syndrome |
|
Flexion contracture, Lower limb amyotrophy |
OMIM:618635 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Progressive distal muscular atrophy, Facial palsy |
OMIM:159950 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... |
ORPHA:98863 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... |
ORPHA:98853 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Hypogonadotropic hy... |
OMIM:612079 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co... |
OMIM:161800 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy |
ORPHA:99944 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness |
OMIM:312920 |
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 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy |
ORPHA:101081 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy |
OMIM:205200 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased ... |
ORPHA:178148 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficienc... |
ORPHA:2047 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Marinesco-Sjögren Syndrome |
|
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... |
ORPHA:559 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Abnormal lactate ... |
ORPHA:42 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Gene... |
OMIM:615084 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... |
OMIM:606407 |
Fried Syndrome |
|
Skeletal muscle atrophy |
ORPHA:85335 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Goiter |
OMIM:274240 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:183050 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Proximal amyotrophy |
OMIM:604484 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy |
OMIM:611895 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Delayed menarche |
ORPHA:330050 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb hypertonia, Diabetes mellitus, Lower limb muscle weakness, Generalized amyotrophy |
ORPHA:1177 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Syndactyly, Upper limb muscle weakness, Distal lower limb muscle weaknes... |
OMIM:615284 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy |
ORPHA:101078 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:302802 |
Melorheostosis |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:2485 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypertriglyceridemia, Hand muscle weakness, Fat... |
ORPHA:98908 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture |
OMIM:620240 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:271245 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
ORPHA:101082 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy |
OMIM:614808 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Diabetes ins... |
ORPHA:97229 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy |
OMIM:617892 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy |
ORPHA:100988 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism... |
ORPHA:85323 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:245400 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy |
OMIM:610006 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy |
OMIM:608030 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:616907 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... |
ORPHA:247234 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Cryptorchidism, Facial diplegia, Talipes equinovarus... |
OMIM:611890 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Hepatic failure, Talipes equinovarus |
OMIM:616719 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1188 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Weaknes... |
ORPHA:254875 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia |
OMIM:261650 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Decreased beta-galactosidase activity |
OMIM:230650 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Abnormality of ... |
ORPHA:59 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Abnormal diaphysis morphology, Progressive flexion contractures |
ORPHA:2028 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... |
ORPHA:79240 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Short distal phalanx of finger, Ulnar deviation of finger |
ORPHA:2013 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia |
ORPHA:240071 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Split hand, Talipes equinovarus |
OMIM:607831 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot... |
ORPHA:298 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:98896 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Akinesia, Dystonia |
OMIM:300894 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Decreased serum testosterone concentration |
ORPHA:101006 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatic failure, Arthrogryposis multiplex congenita... |
OMIM:232500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy |
OMIM:614895 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Hyperinsulinemia, Ovarian cyst, Large hands, Severe ... |
OMIM:246200 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy |
OMIM:608627 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Premature pubarche, Foot joint contracture, Cryptorchidism |
ORPHA:457205 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogona... |
ORPHA:453533 |
Perry Syndrome |
|
Tremor, Short stepped shuffling gait, Akinesia, Dystonia |
OMIM:168605 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Lower limb hypertonia, Type 1 muscle fiber predominan... |
ORPHA:319514 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive |
OMIM:618228 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... |
OMIM:252011 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Abnorm... |
ORPHA:79083 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Elevated circulating alkaline phosphatase concentration, Ge... |
ORPHA:52430 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy |
OMIM:604360 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakn... |
ORPHA:352447 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615595 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Musc... |
ORPHA:369840 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... |
OMIM:609286 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity |
OMIM:162370 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... |
OMIM:604320 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia |
OMIM:606693 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph... |
ORPHA:3068 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb amyotrophy, Talipes equinovarus, Limb hypertonia |
ORPHA:401815 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Delayed puberty, Hyp... |
OMIM:600462 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia |
OMIM:618249 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Clinodactyly of the 5th finger, Distal amyotrophy, Congenital foot contractures |
ORPHA:3454 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture, Delayed puberty |
OMIM:615704 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Ulnar deviation of the... |
ORPHA:157954 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Portal hypertension, F... |
ORPHA:367 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Diabetes mellitus, Cachexia, Abnormal thumb morphology, Clinodactyly of ... |
ORPHA:3242 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... |
ORPHA:264580 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy |
OMIM:616684 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita |
ORPHA:2254 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Con... |
OMIM:616716 |
Manganese Poisoning |
|
Postural tremor, Gait disturbance, Akinesia, Dystonia |
ORPHA:306682 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Congenital Myopathy 12 |
|
Abnormal circulating creatine kinase concentration, Akinesia |
OMIM:612540 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy |
OMIM:612069 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy |
OMIM:616437 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Cryptorchidism |
OMIM:618578 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:618603 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Insulin resis... |
ORPHA:2348 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy |
OMIM:500001 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Reduced carnitine O-palmitoyltransferase level, Rhabdomyolysis, Increased m... |
ORPHA:228302 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy |
OMIM:618239 |
Myotonic Dystrophy 2 |
|
Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, Generalized amyotrophy, Elevated ... |
OMIM:602668 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy |
OMIM:105400 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
Glycogen Storage Disease Vii |
|
Increased circulating lactate dehydrogenase concentration, Jaundice, Increased muscle glycogen co... |
OMIM:232800 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy |
OMIM:614932 |
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 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Distal amyotrophy, Hypogonadotropic hypogonadism |
OMIM:215470 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:611812 |
Galactokinase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Small for gestational age, Hypoglycemia, H... |
ORPHA:79237 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal salivary gland morphology |
ORPHA:31 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Foot acroosteolysis, Tapered finger |
ORPHA:970 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy |
OMIM:105300 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, De... |
ORPHA:95496 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Talipes equinovarus, Decreased body weight |
OMIM:617695 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa... |
ORPHA:3208 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentration, Elevated ... |
OMIM:257200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Weakness of facial musculature |
ORPHA:329336 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Hypoparathyroidism, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness |
ORPHA:496756 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy |
ORPHA:98757 |
Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Left ventricular hypertrophy, Failure to thrive, Decre... |
ORPHA:320 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circul... |
OMIM:219090 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Increased circulating gonadotropin level, Testicular dysge... |
ORPHA:168563 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy |
ORPHA:98895 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Ragged-red muscle fibers, Primary adrenal insufficiency |
OMIM:530000 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:300614 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Subluxation of the small ... |
ORPHA:206572 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1933 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Adrenal hypoplasia |
ORPHA:230839 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Joint contracture, Talipes equinovarus |
OMIM:617481 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb muscle weakness, Proximal amyotrophy |
ORPHA:209335 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2840 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Propionyl-CoA carboxylase deficiency, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia |
OMIM:210210 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Thymoma, Proximal amyotrophy |
OMIM:159400 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... |
ORPHA:90796 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Tapered finger, Cryptorchidism, Short toe, Truncal obesity, Hypogonadism... |
ORPHA:127 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Joint contracture, Cryptorchidism |
OMIM:615419 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Facial paralysis |
OMIM:613559 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Diabetes mellitus |
ORPHA:96 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature |
OMIM:253310 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Hypogonadism, Decreased body weight, Clinodac... |
OMIM:616200 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Ulnar deviation of the 3rd finger, Foot joint contracture, Facial palsy, Proxi... |
ORPHA:456312 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obesity, ... |
ORPHA:110 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Lissencephaly 8 |
|
Skeletal muscle atrophy, Talipes equinovarus |
OMIM:617255 |
Polymyositis |
|
Elevated circulating aldolase concentration, Weight loss, Abnormal muscle fiber morphology |
ORPHA:732 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... |
ORPHA:300605 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Viral infection... |
ORPHA:99845 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia |
ORPHA:97349 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Hyperlipidemia, Increas... |
ORPHA:565612 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, ... |
OMIM:157640 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy |
OMIM:616896 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Diabetes mellitus, Myopathy, Hypogonadism, Weakness of... |
ORPHA:98673 |
Microhydranencephaly |
|
Talipes equinovarus, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy |
OMIM:605013 |
Glycogen Storage Disease Xii |
|
Jaundice, Elevated circulating alanine aminotransferase concentration, Increased variability in m... |
OMIM:611881 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... |
ORPHA:79102 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Skeletal muscle atrophy |
OMIM:619759 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Flexion contracture |
ORPHA:87876 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy |
OMIM:105550 |
Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
Doors Syndrome |
|
Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology,... |
ORPHA:79500 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Elevated circulating alanine aminotransferase concent... |
OMIM:614300 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Failure to thrive, Supernumerary nipple |
OMIM:617339 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Bowing of the long bones, Shoulder flexion contracture,... |
OMIM:255800 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Generalized amyotrophy, Limb hypertonia |
OMIM:617710 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... |
OMIM:619036 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:612300 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Limb hypertonia |
OMIM:619527 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:614678 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Femur fracture, Ulnar deviation of the hand... |
OMIM:618291 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Hypergonadotropic hypogonadism |
ORPHA:1399 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Acute infantile spinal muscular atroph... |
OMIM:271225 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Type 2 muscle fiber atrophy, Diabetes mellitus |
OMIM:613845 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Distal amyotrophy, Distal lower limb muscle weakness |
OMIM:612020 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy |
OMIM:162100 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Facial diplegia, Distal amyotrophy, Failure ... |
ORPHA:254930 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Failure to thrive, Arachnodactyly |
OMIM:616420 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Akinesia |
OMIM:619147 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, F... |
OMIM:218000 |
Snakebite Envenomation |
|
Hypopituitarism, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Ragged-red muscle fibers, Elevated circulating aspartate aminotransferase conc... |
OMIM:614924 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Diabetes mellitus, Hyperthyroidism, Facial palsy, Goiter, Quadrice... |
ORPHA:254892 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Abnormal circulating enzyme concentration or activity,... |
ORPHA:98915 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Short humerus, Short femur, Abnormal circ... |
ORPHA:17 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Failure to thrive, Diabetes mellitus |
ORPHA:94063 |
L1 Syndrome |
|
Skeletal muscle atrophy, Adducted thumb |
ORPHA:275543 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy |
OMIM:615578 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Bile duct proliferation, Fasti... |
OMIM:613027 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Muscular dyst... |
OMIM:613154 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Jaundice... |
ORPHA:39812 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Small for gestational age |
OMIM:612073 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J... |
OMIM:617049 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy |
OMIM:162400 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypoglycemia, Large for gestational age, Elevat... |
OMIM:616026 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Unilateral cryptorchidism |
OMIM:618862 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Skeletal muscle atrophy, Arachnodactyly, Cryptorchidism, Flexion contracture, Testicula... |
ORPHA:75496 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Rhabdomyo... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:608779 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... |
OMIM:112250 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Type 2 muscle ... |
OMIM:615471 |
Rett Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Increased serum leptin |
ORPHA:778 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Cryptor... |
OMIM:307030 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Hypergonadotropic h... |
OMIM:607426 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2942 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... |
OMIM:164310 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Wide distal femoral metaphysis, Femor... |
OMIM:614856 |
Spinocerebellar Ataxia Type 18 |
|
Skeletal muscle atrophy |
ORPHA:98771 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:619272 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Autoamputation of digits, Failure to thrive, Hypo... |
OMIM:256810 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp... |
ORPHA:2215 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Shuffling gait, Akinesia, Dystonia |
ORPHA:411602 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Flexion contracture of finger, Joint contracture of the hand, Camptodactyly |
OMIM:609033 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Slender finger, Adducted thumb |
OMIM:300243 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Broad hallux, Arachnodactyly, Flexion contracture, Failure to thrive, Br... |
ORPHA:481152 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur... |
OMIM:205100 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
Werner Syndrome |
|
Skeletal muscle atrophy, Rocker bottom foot, Insulin resistance, Small hand, Ovarian neoplasm, Th... |
ORPHA:902 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:90045 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Cachexia, Abnormality of the thyroid gland, Genu varum |
ORPHA:1969 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Talipes equinovaru... |
ORPHA:320375 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Rett Syndrome |
|
Short foot, Skeletal muscle atrophy, Cachexia |
OMIM:312750 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Abnormality of masticatory muscle |
ORPHA:98755 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Rhabdomyolysis, Ragged-red muscle fibers, Elevated c... |
OMIM:124000 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:682 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy |
ORPHA:1344 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypoglycemia, Hyperlipidemia, Xanthelasma, ... |
OMIM:232200 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co... |
ORPHA:168572 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormal lactate dehydrogenase level, Muscular dystrophy... |
ORPHA:899 |
Leprechaunism |
|
Skeletal muscle atrophy, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyr... |
ORPHA:508 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia... |
ORPHA:570 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... |
ORPHA:333 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:616586 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:273395 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Hashimoto thyroi... |
ORPHA:109 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Jaundice, Myopathy, Prolonged neonatal jaundice, Cholelithiasis, Failure... |
OMIM:615512 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:200150 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancreatic hypoplasia, Overlapping fingers,... |
OMIM:609069 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Facial myokymia |
ORPHA:513436 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Scapular winging, Bowing of the long bones, Arachnoda... |
OMIM:305620 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing... |
ORPHA:435638 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, ... |
ORPHA:1328 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... |
OMIM:618733 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build |
OMIM:603041 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... |
ORPHA:258 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cuppin... |
OMIM:300232 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age |
OMIM:618252 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... |
ORPHA:845 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bone diap... |
OMIM:131300 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Cryptorchid... |
OMIM:254940 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy |
OMIM:256550 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Ragged-red ... |
ORPHA:550 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Increased variability in muscle fiber diameter, Femoral bowing, Macroglossia, Hypopl... |
OMIM:617022 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy |
ORPHA:2821 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:98914 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy |
OMIM:614153 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Diabetes mellitus, Camptodactyly, Arthrogryposis multiplex congenita, Jo... |
OMIM:601701 |
Sandhoff Disease |
|
Macroglossia, Skeletal muscle atrophy, Reduced beta-hexosaminidase activity |
OMIM:268800 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Opisthotonus |
OMIM:608013 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Sézary Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3162 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy |
OMIM:615157 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypopla... |
OMIM:267000 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... |
ORPHA:1358 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Failure to thrive |
OMIM:615934 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Ragged-red muscle fibers, Increased int... |
OMIM:252010 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy |
ORPHA:812 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy |
ORPHA:276198 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal circulating enzyme concentration or activity, Decreased muscle mass, Elbow flexion contr... |
ORPHA:1900 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Diabetes mellitus, Weight loss, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy |
ORPHA:276241 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Multiple joint co... |
ORPHA:506 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia |
OMIM:234200 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:615802 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Hammertoe |
ORPHA:773 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy |
ORPHA:803 |
Trisomy 17P |
|
Skeletal muscle atrophy, Tapered finger, Flexion contracture, Macroglossia, Clinodactyly of the 5... |
ORPHA:261290 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive |
OMIM:615895 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Delayed p... |
ORPHA:89842 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypo... |
ORPHA:2990 |
Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Akinesia, Hand tremor |
OMIM:618947 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Broad toe, Hyperthyroidism, Diastasis recti, Decreased response to growt... |
ORPHA:488632 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Flexion contracture, Truncal obe... |
OMIM:301072 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Talipes equinovarus, Genu varum |
OMIM:619743 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy |
OMIM:620089 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Skeletal muscle atrophy, Abnormal thumb morphology, Abnormal hand morphology, Genu valgum, Upper ... |
ORPHA:101000 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy |
OMIM:211530 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:88644 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Distal amyotrophy |
OMIM:164400 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy |
ORPHA:276244 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy |
OMIM:103050 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis mo... |
ORPHA:800 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... |
ORPHA:273 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Fasting hyperinsulinemia, Finger clinodactyly, Short palm, Hyperglycemia... |
ORPHA:79474 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Skeletal muscle atrophy, Elevated hepatic transaminase, Failure to thrive, Impaire... |
OMIM:256040 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Long thumb, Arachnodactyly, Proximal placement of thumb |
OMIM:620370 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... |
ORPHA:192 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Failure to thrive, Ragged-red muscle fibers, Hepatic failure |
ORPHA:255210 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Skeletal muscle atrophy, Torticollis, Clinodactyly of the 2nd finger |
ORPHA:251061 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... |
ORPHA:2912 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Cryptorchidism |
OMIM:614969 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Localized Scleroderma |
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Skeletal muscle atrophy, Flexion contracture, Myopathy, Sclerosis of finger phalanx, Hashimoto th... |
ORPHA:90289 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Neu-Laxova Syndrome |
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Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Hypogonadism, Muscular dys... |
ORPHA:2671 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
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Skeletal muscle atrophy, Retractile testis, Arthrogryposis multiplex congenita |
OMIM:617193 |
Congenital Myopathy 13 |
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Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cryptorchidism, Flexion contractur... |
OMIM:255995 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Autosomal Recessive Spastic Paraplegia Type 9B |
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Skeletal muscle atrophy |
ORPHA:447760 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Dpagt1-Cdg |
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Tremor, Inability to walk, Ataxia, Akinesia |
ORPHA:86309 |
Marden-Walker Syndrome |
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Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Radioulnar... |
ORPHA:2461 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Diabetes mellitus, Failure to thrive in infancy, Metaphyseal widening, G... |
OMIM:219800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance |
OMIM:614557 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
ORPHA:496641 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Japanese Encephalitis |
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Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Talipes equinovarus, Inappropri... |
ORPHA:79139 |
Duane Retraction Syndrome |
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Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyl... |
ORPHA:233 |
Choreoacanthocytosis |
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Elevated circulating aspartate aminotransferase concentration, Peroneal muscle atrophy, Abnormal ... |
ORPHA:2388 |
Lysinuric Protein Intolerance |
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Skeletal muscle atrophy, Failure to thrive, Truncal obesity |
OMIM:222700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Skeletal muscle atrophy, Overlapping toe, Small for gestational age, Tapered finger, Cryptorchidi... |
OMIM:309590 |
Multiple System Atrophy 1, Susceptibility To |
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Skeletal muscle atrophy |
OMIM:146500 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Swelling of proximal interphalangeal join... |
ORPHA:3260 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Tick-Borne Encephalitis |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy |
ORPHA:297 |
Cockayne Syndrome |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Cachexia, Cryptorchidi... |
ORPHA:191 |
Nijmegen Breakage Syndrome |
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Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma |
ORPHA:647 |
African Trypanosomiasis |
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Akinesia, Tremor, Choreoathetosis, Gait disturbance, Difficulty walking |
ORPHA:3385 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Leprosy |
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Skeletal muscle atrophy, Autoamputation of digits, Testicular mass, Abnormality of the adrenal gl... |
ORPHA:548 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypogonadism, Meta... |
OMIM:259050 |
Singleton-Merten Syndrome 1 |
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Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalanges of the hand,... |
OMIM:182250 |
Cockayne Syndrome Type 3 |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Flexion contracture |
ORPHA:90324 |
Marfan Syndrome |
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Skeletal muscle atrophy, Cachexia, Arachnodactyly, Slender build |
ORPHA:558 |
Stickler Syndrome |
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Skeletal muscle atrophy, Arachnodactyly, Cachexia, Genu valgum, Macroglossia, Abnormal diaphysis ... |
ORPHA:828 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Skeletal muscle atrophy, Arachnodactyly, Talipes equinovarus, Myopathy |
ORPHA:536545 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Decreased serum iron, Inability to walk, Dystonia |
ORPHA:438213 |
Pierson Syndrome |
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Skeletal muscle atrophy |
OMIM:609049 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Pontocerebellar Hypoplasia Type 7 |
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Skeletal muscle atrophy, Cryptorchidism |
ORPHA:284339 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Cortisone Reductase Deficiency 1 |
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Precocious puberty, Obesity |
OMIM:604931 |