| Spastic Paraplegia Type 7 |
|
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Abnormal pyramidal ... |
ORPHA:99013 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Ataxia, EMG: myopathic abnormalities, Ragged-red muscle fib... |
OMIM:500002 |
| Syndactyly Type 4 |
|
Camptodactyly of finger, Triphalangeal thumb, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature, Proximal muscle weakne... |
ORPHA:457050 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Babinski sign, Decreased activity of mi... |
OMIM:500013 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Fasciculations, Generalized amyotrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal moto... |
ORPHA:275872 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:616209 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
| Blount Disease |
|
Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysis, Tibial bowing |
ORPHA:2768 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, Gait disturbance, EMG: myopathic abnormalities, ... |
OMIM:605820 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Abnormal cerebellum morphology, Ataxia, Babinski sign, Myopathy, Difficulty walking, ... |
OMIM:618242 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
| Barth Syndrome |
|
Abnormality of neutrophils, Abnormal mitochondrial morphology |
ORPHA:111 |
| Spinocerebellar Ataxia 28 |
|
Gait ataxia, Somatic sensory dysfunction, Spasticity, Parkinsonism, Limb ataxia, Babinski sign, A... |
OMIM:610246 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Gait di... |
ORPHA:352470 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Clumsiness, EMG: myopathic abnormalities, Distal upper ... |
ORPHA:603 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Abolished vibration sense, Distal lower limb amyotrophy, Lower limb muscle weakness, ... |
OMIM:620068 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Muscle fiber atrophy, Tremor, Proximal muscle weakness in lower limbs, U... |
ORPHA:309169 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Inability to walk, Nemaline bodies, Frequent falls, ... |
OMIM:256030 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Somatic sensory dysfunction, Muscle fiber splitting, Increased variability in muscle fiber diamet... |
OMIM:616924 |
| Hsd10 Mitochondrial Disease |
|
Spasticity, Choreoathetosis, Spastic tetraplegia, Abnormal mitochondrial morphology |
OMIM:300438 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Skeletal muscle atrophy, Hypersegmentation of neutrophil nuclei, Macrocytic an... |
OMIM:615578 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Paresthesia, Centrally nucleated skeletal muscle ... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Falls, Calf... |
OMIM:618848 |
| Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Somatic sensory dysfunction, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Inability t... |
ORPHA:266 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Difficulty walking, Fr... |
OMIM:500003 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... |
OMIM:300106 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Myoclonus, Ataxia, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Abnormality of the mitochondrion, Tremor, Skeletal muscle atrophy, Difficulty ... |
ORPHA:330050 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Inability to walk, Loss of ability to walk in early childhood, Decreased ... |
OMIM:609560 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Upper limb postural tremor, Decreased activity of mitochondrial complex III, Decreased activity o... |
ORPHA:477774 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Paresthesia, Muscle fiber atrophy, Shuffling gait, Parkinsonism with favorable response to dopami... |
ORPHA:254886 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Abnormal pyramidal sign, Lower limb muscle weakness, Gait disturbance, Positive Romberg sign, Ata... |
OMIM:616479 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Bradykinesia, Increased mitochondrial number, Bab... |
OMIM:619063 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber atrophy, Truncal ataxia, Babinski sign, Steppage gait, Impaired distal proprioceptio... |
OMIM:258450 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing |
OMIM:166740 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... |
OMIM:301082 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Calf muscle hypertrophy, Abnormal m... |
ORPHA:353 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:619024 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Falls, Type 1 muscle fiber predominance, Generalized ... |
OMIM:608358 |
| Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Clumsiness, Weakness of the intrinsic hand muscle... |
ORPHA:488650 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Generalized amyotrophy, Weakness of facial musculature, Myopathy,... |
ORPHA:352447 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Generalized amyotrophy, Shoulder girdle muscle weakness, Gait disturbance, Pelvic girdle amyotrop... |
OMIM:167320 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Flexion contracture, Abnormal mitochondria in muscle tissue, Truncal ataxia, Myoclonu... |
OMIM:252011 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Barth Syndrome |
|
Skeletal myopathy, Gait disturbance, Hypochromic microcytic anemia, Cyclic neutropenia, Granulocy... |
OMIM:302060 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... |
OMIM:618987 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Tibial bowing, Femoral bowi... |
OMIM:600785 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Loss of ambulation, Rimmed... |
OMIM:619518 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Agammaglob... |
OMIM:613501 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... |
OMIM:619705 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... |
ORPHA:401768 |
| Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Marinesco-Sjogren Syndrome |
|
Gait ataxia, Spasticity, Flexion contracture, Cerebellar cortical atrophy, Centrally nucleated sk... |
OMIM:248800 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Gait ataxia, Spasticity, Abnormal mitochondrial shape, Ataxia, Hypertonia, Cerebellar atrophy, Ce... |
ORPHA:543470 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Myoclonus, Gait disturbance, Macroglossia, Cerebellar atrophy, Unst... |
ORPHA:412217 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Limb-girdle muscular dystrophy, Unstead... |
OMIM:612937 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Muscle fiber atrophy, Inability to walk, Difficulty walking, Hypertonia, Distal amyotrophy, Lower... |
ORPHA:300605 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, Clumsiness, EMG: myopathic abnormalities, Step... |
OMIM:610099 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Shoulder girdle muscle atrophy, Difficulty walking, Steppage gait, Scapul... |
ORPHA:437572 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... |
ORPHA:598 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Ab... |
ORPHA:17 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
| Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... |
ORPHA:353327 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn... |
ORPHA:1145 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Increased circulating... |
ORPHA:277 |
| Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers |
ORPHA:480 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, Steppage gait, EMG: myopathic abnormalities |
OMIM:600334 |
| Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
| Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... |
OMIM:160150 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Generalized amyotrophy, Decreased activity of mitochondrial complex IV, Cere... |
OMIM:615084 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Choreoathetosis, Ataxia, Weakness of facial musculature, Frequent falls, Ragged-r... |
OMIM:618416 |
| Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Postural tr... |
OMIM:619790 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... |
OMIM:618823 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired distal vibration sensation, Centrally nucleated skeletal muscle fibers, Triceps weakness... |
OMIM:619574 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... |
OMIM:618048 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... |
OMIM:618108 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Hypoesthesia, Babinski sign, Frequent falls, Impaired distal proprioception, Scapular winging, Ga... |
OMIM:607459 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Hydrocephalus, Ataxia, Skeletal muscle atrophy, Hypertonia |
ORPHA:31 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Iliac crest serration, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, Short palm, C... |
ORPHA:93317 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... |
ORPHA:331206 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Long fibula, Abnormal metaphysis morphology |
ORPHA:935 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Knee flexion contracture, Short phalanx of finger, Hip subluxation, Triangular shaped distal phal... |
OMIM:271665 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
| Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Communicating hydrocephalus, Sideroblast... |
OMIM:616084 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... |
OMIM:157640 |
| Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Tongue fasciculations, Flexion contracture, B lymphocytopenia |
OMIM:619851 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Spasticity, Abnormal mitochondrial shape |
ORPHA:485421 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fatty replacement of skeletal muscle, Parkinsonism, Weakness of the intrinsic hand muscles, EMG: ... |
ORPHA:329478 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... |
OMIM:610442 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, EMG: myopathic abnormalities, Decreased muscle glycogen content, Foot dors... |
ORPHA:263297 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Decreased activity of mitochondrial complex IV, Weakness of facial musculature, Myopa... |
OMIM:616239 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture,... |
ORPHA:98855 |
| Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:602771 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Abnormality of the mitochondrion |
ORPHA:91130 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... |
OMIM:181405 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture,... |
ORPHA:98863 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture,... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture,... |
ORPHA:261 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Anemia, Decreased muscle mass, Paresthesia, Abnormality of the mitochondrion, Foot dorsiflexor we... |
ORPHA:298 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Myoclonus, Pancytopenia, Ataxia, Righ... |
OMIM:607426 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Abnormality of the calf musculature, Distal sensory impairment, Shoulder gird... |
ORPHA:600 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Frequent falls, Hypertonia, Bradykinesia, Facial palsy, Gait ataxia, Left ventri... |
ORPHA:254892 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Reduced natural killer cell count, Abnormal T cell subset distribution, Decreased circulating tot... |
ORPHA:221139 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Myoclonus, Positive Romberg sign, Im... |
ORPHA:70595 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Dista... |
OMIM:606070 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
| Myopathy With Extrapyramidal Signs |
|
Chorea, Cerebellar dysplasia, Calf muscle hypertrophy, Clumsiness, Abnormality of extrapyramidal ... |
OMIM:615673 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia, Cerebellar vermis ... |
OMIM:615966 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Muscle fiber atrophy, Truncal ataxia, Muscular dystrophy, Myopathy, Difficulty walking, L... |
ORPHA:369840 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, General... |
ORPHA:171881 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Hydrocephalus, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... |
ORPHA:2442 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... |
OMIM:301081 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Mitochondrial swelling |
OMIM:615595 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... |
OMIM:301078 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... |
OMIM:614700 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... |
ORPHA:35078 |
| Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Abnormal muscle fiber morphology, Paralysis, Increased intramyocellular li... |
ORPHA:681 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Pancytopenia, Bone marrow hypocellularity, ... |
OMIM:620133 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... |
OMIM:603554 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... |
OMIM:602450 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein, Parkinsonism, Apraxia, Oculomotor apraxia, Myocl... |
ORPHA:1020 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
| Alg12-Cdg |
|
Abnormal circulating IgG level, Patent ductus arteriosus, Complete or near-complete absence of sp... |
ORPHA:79324 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Cerebellar hypoplasia, Muscular dystrophy, Hydrocephalus, Hypoplasia of the ... |
OMIM:613154 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, B lymphocytopenia, Decreased circulating antibody level, Rectal abscess... |
OMIM:601495 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Anemia, Decreased circulating total IgM, Lymphopenia, Severe B lymphocy... |
OMIM:620005 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Spasticity, Resting tremor, Ataxia, Babinski sign, Head tremor, Cerebellar atrophy, Abnormality o... |
ORPHA:314404 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased circulating antibody level, Abnormal lymphocyte morphology, A... |
ORPHA:293978 |
| Sialuria |
|
Hyperkinetic movements, Abnormality of the mitochondrion, Hepatosplenomegaly |
ORPHA:3166 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy |
ORPHA:3068 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Camptodactyly, Hypoplasia of the thymus, Abnormality of the mitochondrion, Joint contracture of t... |
OMIM:214110 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Gait disturbance |
ORPHA:732 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... |
OMIM:251260 |
| Thyrotoxic Periodic Paralysis |
|
Rhabdomyolysis, Respiratory paralysis, Lower limb muscle weakness, Abnormal muscle fiber morpholo... |
ORPHA:79102 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Decreas... |
ORPHA:83617 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul... |
OMIM:619381 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
